http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleEsterno/ID8278
ALDO QUATTRONE
- Type
- Label
- ALDO QUATTRONE (literal)
- ALDO QUATTRONE (literal)
- Gestore di
- Partecipa a commessa
- Persona in rapporto
- Autore CNR di
- A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Could the expression of Jagged1 gene mutations play a role in modulating a CADASIL-like phenotype? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Serotonin transporter gene (5-Htt): association analysis with temporal lobe epilepsy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Coadministration of entacapone with levodopa attenuates severità of wearing off in PD patients. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Impact of individual cognitive profile on visuo-motor reorganization in relapsing-remitting multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The association of single nucleotide E-selectin gene polymorphism with Multiple Sclerosis. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Dopaminergic modulation of cognitive interference after pharmacological washout in Parkinsons disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A family with dominant optic atrophy and deafness due to a novel Opa1 mutation. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Adaptive cortical changes and the functional correlates of visuo-motor integration in relapsing-remitting multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Brain-derived neurotrophic factor val66met polymorphysm and the cortical response to spatial working memory (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Functional changes in the activity of cerebellum and frontostriatal regions during externally and internally timed movement in Parkinsons disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Brain-Derived Neurotrophic Factor Val66Met polymorphism and peripheral mrna expression in patients with Relapsing Remitting Multiple Sclerosis (RRMS). (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- Ventro-Lateral Prefrontal activity during working-memory processing is modulated by Monoamine oxidase-A genetic variation (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The Tau haplotype contributes to susceptibility to Parkinsons disease in a Souther Italy population. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Pink1 mutations and the risk of Parkinsons disease in family members of Southern Italy (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Linkage and mutational study in two families with familial hemiplegic migraine. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Dopamine-transporter levels drive striatal responses to apomorphine in Parkinson's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Magnetic Resonance Support Vector Machine Discriminates Between Parkinson Disease and Progressive Supranuclear Palsy (Articolo in rivista) (Prodotto della ricerca)
- Which is the goal of cognitive rehabilitation in multiple sclerosis: The improvement of cognitive performance or the perception of cognitive deficits? (Articolo in rivista) (Prodotto della ricerca)
- LRRK2 exons 31, 34, 35, 38 and 48 mutation analysis in a cohort of PD patients with a dominant pattern of inheritance from South Italy. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. (Articolo in rivista) (Prodotto della ricerca)
- FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. (Articolo in rivista) (Prodotto della ricerca)
- A CNN Based Algorithm for the Automated Segmentation of Multiple Sclerosis Lesions (Curatela) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1501)
- Neuroanatomical correlates of dystonic tremor: A cross-sectional study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. (Articolo in rivista) (Prodotto della ricerca)
- Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. (Articolo in rivista) (Prodotto della ricerca)
- Fully automated segmentation of the pons and midbrain using human T1 MR brain images (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The midbrain to pons ratio: A simple and specific MRI sign of progressive supranuclear palsy. (Articolo in rivista) (Prodotto della ricerca)
- Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. (Articolo in rivista) (Prodotto della ricerca)
- Advanced MRI Morphologic Study Shows No Atrophy in Healthy Individuals with Hippocampal Hyperintensity (Articolo in rivista) (Prodotto della ricerca)
- A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Hyperhomocysteinemia is associated with cognitive impairment in multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cognitive dysfunction in patients with relapsing-remitting multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MRI evidence of mesial temporal sclerosis in sporadic \"benign\" temporal lobe epilepsy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis (Articolo in rivista) (Prodotto della ricerca)
- Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson's disease and progressive supranuclear palsy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Isolated unilateral abducens palsy in idiopathic intracranial hypertension without papilledema (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Treatment of multiple sclerosis with interferon beta in clinical practice: 2-year follow-up data from the South Italy Mobile MRI Project. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): a proteiform neurological disease of expanding importance. Reasons for establishing an Italian Registry. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetic screening for familial amyloid polyneuropathy in patients with idiopathic carpal tunnel syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Natural history of CMT1A including QoL: a 2-year prospective study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reply to (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Hormonal replacement therapy in women with Parkinson disease and levodopa-induced dyskinesia: a crossover trial. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association between the M129V variant allele of PRNP gene andmild temporal lobe epilepsy in women (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The role of VLA4 polymorphisms in Multiple Sclerosis: an association study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A phenotyphic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: PSEN2. Disease: Alzheimer disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mixed tremors with integrity of nigrostriatal system: a clinical and DAT-SPECT follow-up study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MR imaging index for differentiation of progressive supranuclear palsy from Parkinson disease and the Parkinson variant of multiple system atrophy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ventro-Lateral Prefrontal activity during working memory processing is modulated by MAO A genetic variation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Impact of catechol-O-methyltransferase Val(108/158) Met genotype on hippocampal and prefrontal gray matter volume. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Apparent diffusion coefficient of the superior cerebellar peduncle differentiates progressive supranuclear palsy from Parkinson's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Relationship between clinical examination, quality of life, disability and depression in CMT patients: Italian multicenter study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms. (Articolo in rivista) (Prodotto della ricerca)
- Gender-related effect of clinical and genetic variables on the cognitive impairment in multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- The fragile X premutation presenting as postprandial hypotension. (Articolo in rivista) (Prodotto della ricerca)
- Association between Synapsin III gene promoter polymorphisms and multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. (Articolo in rivista) (Prodotto della ricerca)
- Spinal glioneuronal tumor with neuropil-like islands and meningeal dissemination: histopathological and radiological study of a pediatric case. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: NOTCH3. Disease: CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Gene Symbol: MECP2. Disease: Rett Syndrome. (Articolo in rivista) (Prodotto della ricerca)
- A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: NOTCH3. Disease CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (Articolo in rivista) (Prodotto della ricerca)
- A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. (Articolo in rivista) (Prodotto della ricerca)
- Age at onset influences neurodegenerative processes underlying PD with levodopa-induced dyskinesias (Articolo in rivista) (Prodotto della ricerca)
- Quetiapine and clozapine in parkinsonian patients with dopaminergic psychosis. (Articolo in rivista) (Prodotto della ricerca)
- Clinical and genetic findings in 26 Italian patients with Lafora disease. (Articolo in rivista) (Prodotto della ricerca)
- Empty sella and bilateral transverse sinus stenosis predict raised intracranial pressure in the absence of papilloedema: a preliminary study. (Articolo in rivista) (Prodotto della ricerca)
- The gender effect in juvenile Huntington disease patients of Italian origin (Articolo in rivista) (Prodotto della ricerca)
- Adaptive cortical changes and the functional correlates of visuo-motor integration in relapsing-remitting multiple sclerosis (Articolo in rivista) (Prodotto della ricerca)
- Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? (Articolo in rivista) (Prodotto della ricerca)
- MR imaging of middle cerebellar peduncle width: differentiation of multiple system atrophy from Parkinson disease. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: MECP2. Disease: Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). (Articolo in rivista) (Prodotto della ricerca)
- Bilateral transverse sinus stenosis predicts IIH without papilledema in patients with migraine (Articolo in rivista) (Prodotto della ricerca)
- Interaction between Apolipoprotein epsilon 4 and traumatic brain injury in patients with Alzheimer's disease and Mild Cognitive Impairment (Articolo in rivista) (Prodotto della ricerca)
- Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. (Articolo in rivista) (Prodotto della ricerca)
- Myocardial (123)I-MIBG scintigraphy for differentiation of Lewy bodies disease from FTD. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- CSF opening pressure: reference interval and the effect of body mass index (Articolo in rivista) (Prodotto della ricerca)
- Voluptuary habits and clinical subtypes of Parkinson's disease: the FRAGAMP case-control study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Clinical, genetic and magnetic resonance findings in an Italian patient affected by L: -2-hydroxyglutaric aciduria. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dysbindin C-A-T haplotype is associated with thicker medial orbitofrontal cortex in healthy population (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Two-dimensional gel electrophoresis of peripheral nerve proteins: Optimized sample preparation. (Articolo in rivista) (Prodotto della ricerca)
- A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. (Articolo in rivista) (Prodotto della ricerca)
- CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Hyperekplexia in a patient with a brainstem vascular anomaly. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cysteine-sparing notch3 mutations: cadasil or cadasil variants? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene dosage influences the age at onset of SCA2 in a family from southern Italy (Articolo in rivista) (Prodotto della ricerca)
- Lack of association between G-protein coupled receptor kinase 5 gene and Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- Impact of individual cognitive profile on visuo-motor reorganization in relapsing-remitting multiple sclerosis (Articolo in rivista) (Prodotto della ricerca)
- Dopaminergic modulation of cognitive interference after pharmacological washout in Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reproductive factors and Parkinson's disease: A multicenter case-control study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Combined use of cardiac m-i123-iodobenzylguanidine scintigraphy and (123) I-fp-cit single photon emission computed tomography in older adults with rapid eye movement sleep behavior disorder (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alpha-synuclein promoter haplotypes and dementia in Parkinson's disease. (Articolo in rivista) (Prodotto della ricerca)
- MRI measurements predict PSP in unclassifiable parkinsonisms: a follow-up study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Preliminary evidences of a NOS2A protective effect from relapsing-remitting multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- MAO A VNTR polymorphism and amygdala volume in healthy subjects. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MAO A VNTR polymorphism and variation in human morphology: a VBM study. (Articolo in rivista) (Prodotto della ricerca)
- Accuracy of magnetic resonance parkinsonism index for differentiation of progressive supranuclear palsy from probable or possible Parkinson disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetically-dependent modulation of serotonergic inactivation in the human prefrontal cortex. (Articolo in rivista) (Prodotto della ricerca)
- Hippocampal and Thalamic Atrophy in Pharmaco-Sensitive Temporal Lobe Epilepsy: a VBM study (Articolo in rivista) (Prodotto della ricerca)
- Patterns of brain atrophy in Parkinson's disease, progressive supranuclear palsy and multiple system atrophy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Essential head tremor is associated with cerebellar vermis atrophy: a volumetric and voxel-based morphometry MRI study. (Articolo in rivista) (Prodotto della ricerca)
- Anti-GM1antibodies are not associated with cerebral atrophy in patients with multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Lack of interaction between LRP1 and A2M polymorphisms for the risk of Alzheimer disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. (Articolo in rivista) (Prodotto della ricerca)
- Gene conversion events in adult-onset spinal muscular atrophy. (Articolo in rivista) (Prodotto della ricerca)
- Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. (Articolo in rivista) (Prodotto della ricerca)
- Health-related quality of life in epilepsy: findings obtained with a new Italian instrument. (Articolo in rivista) (Prodotto della ricerca)
- The relation between the names and designations of syphilis in the 16th century and its clinical gravity (Articolo in rivista) (Prodotto della ricerca)
- Continuous dopaminergic stimulation: is it the answer to the motor complications of levodopa? (Articolo in rivista) (Prodotto della ricerca)
- Prefrontal alterations in Parkinsons disease patients with levodopa-induced dyskinesias during fMRI motor tasks (Articolo in rivista) (Prodotto della ricerca)
- Blink reflex recovery cycle in patients with dystonic tremor: a cross-sectional study (Articolo in rivista) (Prodotto della ricerca)
- Somatosensory evoked potentials reflect the upper limb motor performance in multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Normal sleep-wake and circadian rhythms in a case of Gerstmann-Sträussler-Sheinker (GSS) disease. (Articolo in rivista) (Prodotto della ricerca)
- Knockdown of the type 2 and 3 inositol 1,4,5-trisphosphate receptors suppresses muscarinic antinociception in mice. (Articolo in rivista) (Prodotto della ricerca)
- Monomorphism of human cytochrome c. (Articolo in rivista) (Prodotto della ricerca)
- Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia (Articolo in rivista) (Prodotto della ricerca)
- Morphological correlates of MAO A VNTR polymorphism: new evidence from cortical thickness measurement. (Articolo in rivista) (Prodotto della ricerca)
- The FRAGAMP study: environmental and genetic factors in Parkinson's disease, methods and clinical features. (Articolo in rivista) (Prodotto della ricerca)
- Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study. (Articolo in rivista) (Prodotto della ricerca)
- Cognitive deficits in multiple sclerosis patients with cerebellar symptoms. (Articolo in rivista) (Prodotto della ricerca)
- The effects of BDNF Val(66)Met polymorphism on brain function in controls and patients with multiple sclerosis: An imaging genetic study. (Articolo in rivista) (Prodotto della ricerca)
- Anti-GM1 antibodies are not associated with cerebral atrophy in patients with multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Cerebellar atrophy in Essential tremor using automated segmentation method. (Articolo in rivista) (Prodotto della ricerca)
- Creutzfeldt-Jakob disease and other dementia may be discriminated by Thymosin beta 4 levels in cerebrospinal fluid using MALDI-TOF MS. (Abstract/Poster in convegno) (Prodotto della ricerca)
- Leber's hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man. (Articolo in rivista) (Prodotto della ricerca)
- MRI measurements of brainstem structures in patients with Richardson's syndrome, progressive supranuclear palsyparkinsonism, and Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- Wine drinking and essential tremor: A possible protective role (Articolo in rivista) (Prodotto della ricerca)
- Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in Southern Italy. (Articolo in rivista) (Prodotto della ricerca)
- Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. (Articolo in rivista) (Prodotto della ricerca)
- Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study. (Articolo in rivista) (Prodotto della ricerca)
- A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. (Articolo in rivista) (Prodotto della ricerca)
- A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. (Articolo in rivista) (Prodotto della ricerca)
- Correlation between fatigue and brain atrophy and lesion load in multiple sclerosis patients independent of disability. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A Cellular Neural Network methodology for the automated segmentation of multiple sclerosis lesions (Articolo in rivista) (Prodotto della ricerca)
- Neuroanatomical correlates of psychogenic non-epileptic seizures: a VBM and Cortical Thickness study (Articolo in rivista) (Prodotto della ricerca)
- Diffusion tensor MRI changes in gray structures of the frontal-subcortical circuits in amyotrophic lateral sclerosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association study of NACP-REP1 polymorphism and Parkinson's disease (Abstract in rivista) (Prodotto della ricerca)
- Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Relationship between genetic variant in pre-microRNA-146a and genetic predisposition to temporal lobe epilepsy: a case-control study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Subcortical Motor Plasticity In Patients With Sporadic Amyotrophic Lateral Sclerosis (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Hippocampal BOLD response during category learning predicts subsequent performance on transfer generalization. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dopaminergic modulation of cognitive interference in Parkinsons disease patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Reduced thalamic volume in Parkinson disease with REM sleep behavior disorder: Volumetric study (Articolo in rivista) (Prodotto della ricerca)
- The BDNF Val66Met Polymorphism Has Opposite Effects on Memory Circuits of Multiple Sclerosis Patients and Controls (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: NOTCH3. (Articolo in rivista) (Prodotto della ricerca)
- Vitamins prevent the neurological symptoms in the deficiency diseases (Abstract/Comunicazione in rivista) (Prodotto della ricerca)
- The \"minor\" Alois Alzheimer before the discovery of the eponymous disorder (Comunicazione a convegno) (Prodotto della ricerca)
- Sporadic ALS is not associated with VAPB gene mutations in Southern Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Detection of hippocampal atrophy in patients with temporal lobe epilepsy: A 3-Tesla MRI shape (Articolo in rivista) (Prodotto della ricerca)
- BRAIN-DERIVED NEUROTROPHIC FACTOR (BDNF) GENE IN RELAPSING-REMITTING MULTIPLE SCLEROSIS (RRMS): LONGITUDINAL EVALUATION (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- HNPP Due To A Novel Frameshift Mutation Of The PMP22 Gene (Comunicazione a convegno) (Prodotto della ricerca)
- SUGGESTIVE EVIDENCE FOR LINKAGE TO CHROMOSOME 4qter FOR AUTOSOMAL DOMINANT DISTAL MOTOR NEURONOPATHY (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Trauma cranico e genotipo APO-E: causa o rischio di malatia di Alzheimer? (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- HNPP due to a novel frameshift mutation of PMP22 gene (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Identificazione di una nuova mutazione nel gene OPA1 in una famiglia affetta da atrofia ottica e sordità. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Traumatic Brain Injury and APOE-e4: cause or risk of Alzheimers Disease? (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Is M129V of the Prion protein gene ( PRNP) associated with mild temporal lobe epilepsy? (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene. (Articolo in rivista) (Prodotto della ricerca)
- Clinic and genetic study in a family with a clinical picture of pantothenase kinase-associated neurodegeneration. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Could Mitochondrial Haplogroups Play A Role In Sporadic Amyotrophic Lateral Sclerosis? (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Alpha-synuclein promoter haplotypes and dementia in Parkinsons disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Functional Cortical Changes In Amyotrophic Lateral Sclerosis: An FMRI Study In The Early Stage Of The Disease (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Mutational analysis of SCN2A gene in italian families with benign familial neonatal-infantile seizures (BFNIS). (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Investigation of the relationship between anti-GM1 antibodies and brain atrophy in multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A Misdiagnosed case of myasthenia gravis with head drop (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A case of probable sporadic Creutzfeldt-Jacob disease with unusual presentation (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Neurofibromatosis Type 2 (Nf2) In Children Under 1 Year Of Age: A Clinical And Molecular Study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- DJ-1 is a Parkinson's disease susceptibility gene in southern Italy (Articolo in rivista) (Prodotto della ricerca)
- Charcot-Marie-Tooth X-linked: five novel mutations in Italian patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Lebers hereditary optic neuropathy associated with multiple sclerosis like picture in a man. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- DAT SCAN 123 I Ioflupane study in early Parkinsons disease and essential tremor (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The Fragampp study environmental and genetic factors in Parkinsons disease and Parkinsonism. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- 5-HTTLPR, anxiety, and gender interaction moderates right amygdala volume in healthy subjects (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Antigene Fas e malattia di Alzheimer sporadica: valutazione analitica di due polimorfismi nel gene TNFRSF6. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Preliminary evidences of a NOS2A protective effect from Relapsing-Remitting Multiple Sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Relapsing-remitting multiple sclerosis and protective effect of a NOS2A gene variant (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Sca17 as cause of early-onset dementia in sothern Italy: report of a new family. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Glucocerebrosidase gene mutations are associated with Parkinsons disease in a population from Souther Italy. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Hippocampal and thalamic atrophy in Sporadic Benign Temporal Lobe Epilepsy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Cerebellar atrophy in patients with familial Essential Tremor: a VBM study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Visualizing genetic influences on Human brain function: Interactive effects of BNDF and COMT allelic variations on a spatial working memory network (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Hippocampal And Thalamic Atrophy In Temporal Lobe Epilepsy (TLE): A VBM Study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Peripheral mRNA expression of brain-derived neurotrophic factor Val66Met polymorphism in patients with relapsing-remitting multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Parkin mutations analysis in patients with sporadic early-onset Parkinsons disease (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- DJ-1 gene confers susceptibility to Parkinsons disease. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Two novel NOTCH3 mutations not involving cysteine residues in CADASIL patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The role of mri in the NOTCH3 gene screening of apparently sporadic CADASIL (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- HAPLOTYPIC INVESTIGATION OF SNPS AT THE NOS2A LOCUS IN RELAPSING-REMITTING MULTIPLE SCLEROSIS. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Cerebellar dysfunction is associated with cognitive impairment in multiple sclerosis. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Voxel-based morphometry of temporal lobe epileptic patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Essential head tremor is associated with cerebellar vermis atrophy: a volumetric and voxel-based morphometry MRI study (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Glutathione Transferase enzyme activity in leukocytes of Parkinson's Disease (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Comparative study between western blotting and ELISA for the determination of anti-MBP antibodies in serum of patients with Multiple Sclerosis (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Alpha synuclein in familial parkinsons disease and lewy body dementia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosys type 1 (NF1) gene in unselected southern Italian NF1 patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Proteomic approach to the study of the nervous system disease. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- MUTATIONAL DETECTION OF EARLY ONSET PARKINSON DISEASE GENES IN PATIENTS FROM SOUTHERN ITALY (Abstract/Poster in convegno) (Prodotto della ricerca)
- MTDNA HAPLOGROUP K IS PROTECTIVE AGAINST PD IN ITALIAN POPULATION (Abstract/Poster in convegno) (Prodotto della ricerca)
- ASSOCIATION STUDY BETWEEN HFE, TF , TFR1 GENES AND PARKINSONS DISEASE (Abstract/Poster in convegno) (Prodotto della ricerca)
- PARKIN, PINK1 AND DJ-1 HETEROZYGOUS MUTATIONS IN SOUTHERN ITALIAN PATIENTS WITH EARLY-ONSET PARKINSONISM (Abstract/Poster in convegno) (Prodotto della ricerca)
- GENETIC STUDY OF SCN1A-RELATED EPILEPSIES IN SOUTHERN ITALY (Abstract/Poster in convegno) (Prodotto della ricerca)
- IDENTIFICATION OF A NOVEL HOMOZYGOUS MUTATION IN THE SIL1 GENE IN MARINESCO-SJOGREN SYNDROME (Abstract/Poster in convegno) (Prodotto della ricerca)
- Mutational screening of the CAPN3 in LGMD patients from Southern Italy. (Abstract/Poster in rivista) (Prodotto della ricerca)
- A new intronic deletion of presenilin 1 gene in a patient with early onset Alzheimer Disease (Abstract/Poster in rivista) (Prodotto della ricerca)
- Ataxia with oculomotor apraxia in a family from southern italy : a clinical and genetic study (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Mutations in the NHLRC1 gene are common in patients with Laforas progressive mioclonus epilepsy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- E163L homozygous DJ-1 mutation in a family from southern italy with amyotrophic lateral sclerosis-parkinsonism-dementia complex (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A Novel Mutation in the X-Linked Cyclin-Dependent Kinaselike 5 (CDKL5) Gene Associated with a Severe Rett Phenotype (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- ANALISI CLINICO-GENETICA IN UNA FAMIGLIA ITALIANA CON ATASSIA SPINOCEREBELLARE AUTOSOMICO-DOMINANTE (Abstract/Poster in convegno) (Prodotto della ricerca)
- Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism (Abstract/Poster in convegno) (Prodotto della ricerca)
- Abnormal prefrontal gray matter in parkinsons disease patients with levodopa-induced dyskinesia: a combined voxel-based morphometry and cortical thickness study (Comunicazione a convegno) (Prodotto della ricerca)
- Dopaminergic modulation of cognitive interference after pharmacological washout in parkinson's disease (Abstract in rivista) (Prodotto della ricerca)
- Increased Risk for Alzheimer disease with the interaction of MPO and A2M Polymorphisms (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Association between Synapsin III gene promoter polymorphisms and multiple sclerosis (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- c.1392+2T>C mutation in MFN2 gene affects splicing in Charcot-Marie-Tooth (CMT) 2A family (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Phenotypic variation of the Ser78Leu P0 mutation in five Sicilian Families (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosis Type 1 (NF1) gene in Southern Italian NF1 Patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Studio di associazione tra un polimorfismo funzionale del promotore del gene della prodinorfina e l'epilessia del lobo temporale. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Diagnosis of haploid and triploid based on measurement of gene copy number in CMT and HNPP (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Declino cognitivo nella Sclerosi Multipla:Studi di associazione. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Mutational analysis of the mitochondrial tRNAleu gene In Italian patients with stroke-like episodes of undetermined origin. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- CASP-9: a susceptibility locus for multiple sclerosis in Italy. (Abstract/Poster in rivista) (Prodotto della ricerca)
- LRP1- LRPAP1 polymorphisms and risk of sporadic Alzheimers disease. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- DENTATO-RUBRAL PALLIDOLUYSIAN ATROPHY: CLINICAL AND GENETIC ANALYSIS OF A SICILIAN PEDIGREE (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Dysfunctions within limbic-motor networks in amyotrophic lateral sclerosis (Articolo in rivista) (Prodotto della ricerca)
- A comprehensive mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Exome sequencing of an Italian patient with dHMN. (Abstract/Comunicazione in atti di convegno) (Prodotto della ricerca)
- Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Italian patients with hereditary spastic paraparesis. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Clinical and genetic study in an Italian family with neurofibromatosis type 1. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Serotonin receptor 2a gene variant influences age at onset but not cognitive performance in patients with temporal lobe epilepsy. (Comunicazione a convegno) (Prodotto della ricerca)
- No role of BDNF genetic variation on cognitive functions in patients with temporal lobe epilepsy. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The impact of first world war on post-traumatic psychiatric symptoms in soldiers. A retrospective study analysis of 498 soldiers admitted in the psychiatric hospital of Girifalco (Catanzaro) (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- \"Schwann cells\", a historical landmark in neurology (Abstract/Poster in convegno) (Prodotto della ricerca)
- Vitamins prevent the neurological symptoms in their deficiency disorders (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Molecular characterization of the Presenilin-2 gene in Italian patients with familial Alzheimer Disease. (Comunicazione a convegno) (Prodotto della ricerca)
- ADULT ONSET TAY-SACHS ASSOCIATED WITH -HEXOSAMINIDASE A DEFICIENCY: A CASE REPORT FROM SOUTH ITALY (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- CAV3 T78M MUTATION IN HETEROZYGOSIS IS NOT ASSOCIATED WITH LGMD1C IN SOUTHERN ITALY (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The frequency of limb girdle muscular dystrophy 1c in southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Gly269Ser mutation in compound heterozygosity with Leu127Arg is associated with adult onset of Tay-Sachs: a case report from south Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Neurofunctional correlates of attention rehabilitation in Parkinson's disease: an explorative study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity. (Articolo in rivista) (Prodotto della ricerca)
- Blink re fl ex recovery cycle distinguishes essential tremor with resting tremor from de novo Parkinson ' s disease: An exploratory study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alois Alzheimer: a hundred years after the discovery of the eponymous disorder (Articolo in rivista) (Prodotto della ricerca)
- Neuroimaging of Essential Tremor: What is the Evidence for Cerebellar Involvement? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Monotherapy for partial epilepsy: focus on levetiracetam. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- COMT inhibition with tolcapone in the treatment algorithm of patients with Parkinson's disease (PD): relevance for motor and non-motor features. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: NOTCH3 (Articolo in rivista) (Prodotto della ricerca)
- Spastin Gene Mutations In Italian Patients With Pure And Complicated Forms Of Spastic Paraplegia (Abstract in rivista) (Prodotto della ricerca)
- Clinical course of idiopathic intracranial hypertension with transverse sinus stenosis (Articolo in rivista) (Prodotto della ricerca)
- Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cardiac denervation precedes nigrostriatal damage in idiopathic rapid eye movement sleep behavior disorder. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Blink reflex recovery cycle in patients with essential tremor associated with resting tremor. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Prefrontal thickening in PD with levodopa-induced dyskinesias: New evidence from cortical thickness measurement (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- May Hyperdirect pathway be a plausible neural substrate for understanding the rTMS-related effects on PD patients with levodopa-induced dyskinesias? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Application of different classification techniques on brain morphological data (Contributo in atti di convegno) (Prodotto della ricerca)
- A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Botulinum toxin is effective in myoclonus secondary to peripheral nerve injury. (Articolo in rivista) (Prodotto della ricerca)
- Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Angiogenin gene and Amyotrophic Lateral Sclerosis in Southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Implementation of the 'Sapere Migliora' information aid for newly diagnosed people with multiple sclerosis in routine clinical practice: a late-phase controlled trial. (Articolo in rivista) (Prodotto della ricerca)
- MR imaging and cognitive correlates of relapsing-remitting multiple sclerosis patients with cerebellar symptoms. (Articolo in rivista) (Prodotto della ricerca)
- Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The spectrum of Notch3 mutations in 28 Italian CADASIL families (Articolo in rivista) (Prodotto della ricerca)
- Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity (Articolo in rivista) (Prodotto della ricerca)
- Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study. (Articolo in rivista) (Prodotto della ricerca)
- Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. (Articolo in rivista) (Prodotto della ricerca)
- The upper limit of normal CSF opening pressure is related to bilateral transverse sinus stenosis in headache sufferers. (Articolo in rivista) (Prodotto della ricerca)
- First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Proteomics of Bovine Myelin Sheath: Characterization of a Truncated Form of P0 by MALDI-TOF/TOF Mass Spectrometry (Articolo in rivista) (Prodotto della ricerca)
- A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- Personality predicts functional activation during working memory demand in patients with multiple sclerosis (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Studio di Voxel-based morphometry in pazienti con epilessia del lobo temporale (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Myocardial (123)Metaiodobenzylguanidine uptake in genetic Parkinson's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern. (Articolo in rivista) (Prodotto della ricerca)
- Homer1 promoter analysis in Parkinsons disease: association study with psycotic symptoms. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Proteomics of Bovine Myelin sheath: Characterization of a truncated form of P0 by MALDI-TOF/TOF Mass Spectrometry (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Frequency analysis of autosomal dominant spinocerebellar ataxia (AD-SCA) in the patients from southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Reflex periodic spasms induced by eating (Articolo in rivista) (Prodotto della ricerca)
- Proteomic Analysis of Cerebrospinal Fluid in Multiple Sclerosis Patients. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Two-dimensional gel electrophoresis of peripheral nerve proteins: Optimized sample preparation (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Subcortical motor plasticity in patients with sporadic ALS: An fMRI study (Articolo in rivista) (Prodotto della ricerca)
- Thymosin beta 4 is overexpressed in Cerebrospinal fluid of Creutzfeldt-Jacob disease patients: a MALDI-TOF MS protein profiling study. (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- Levetiracetam in patients with generalised epilepsy and myoclonic seizures: an open label study (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: MECP2. Disease: Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers (Articolo in rivista) (Prodotto della ricerca)
- Cardiac MIBG scintigraphy in Primary Progressive Freezing Gait. (Articolo in rivista) (Prodotto della ricerca)
- Bilateral transverse sinus stenosis and idiopathic intracranial hypertension without papilledema in chronic tension-type headache. (Articolo in rivista) (Prodotto della ricerca)
- A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The role of the inferior frontal cortex in hyperkinetic movement disorders (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Clinical and genetic analysis of a four-generation family with autosomal dominant cerebellar ataxia (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Hepatonecrosis and cholangitis related to long-term phenobarbital therapy: an autopsy report of two patients. (Articolo in rivista) (Prodotto della ricerca)
- Genetic study of SCN1A-related epilepsies in southern Italy. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Usefulness of a morning routine EEG recording in patients with juvenile myoclonic epilepsy. (Articolo in rivista) (Prodotto della ricerca)
- SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. (Articolo in rivista) (Prodotto della ricerca)
- Contribution of TARDBP mutations to Amyotrophic Lateral Sclerosis. (Abstract in rivista) (Prodotto della ricerca)
- Fas antigen and sporadic Alzheimer's disease in Southern Italy:evaluation of two polymorphisms in the TNFRSF6 gene. (Articolo in rivista) (Prodotto della ricerca)
- GIGYF2 (TRNC15) MUTATION ANALYSIS IN PATIENTS WITH FAMILIAL PARKINSON DISEASE WITH AUTOSOMAL-DOMINANT TRANSMISSION (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Caspase-9 gene C93T polymorphism and Multiple Sclerosis patients from Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation. (Articolo in rivista) (Prodotto della ricerca)
- Presenilin-2 gene mutation presenting as Lewy Body dementia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel mutation in FKRP gene in Italian patient with LGMD. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- FRAXE intermediate alleles are associated with Parkinson's disease. (Articolo in rivista) (Prodotto della ricerca)
- NOS2A AS CANDIDATE GENE IN RELAPSING-REMITTING MULTIPLE SCLEROSIS: AN HAPLOTYPE STUDY BY USING A SUBSETS OF SNPs. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Administration of levodopa modulates the neural and behavioural response associated with cognitive interference in PD patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Startle epilepsy complicating aspartylglucosaminuria. (Articolo in rivista) (Prodotto della ricerca)
- c.1392+2T>C mutation in MFN2 affects splicing mechanism in Charcot-Marie-Tooth (CMT) 2A family. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis (Articolo in rivista) (Prodotto della ricerca)
- Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. (Articolo in rivista) (Prodotto della ricerca)
- Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutational Screening in Patient with Charcot-Marie-Tooth Disease Type 2A (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. (Articolo in rivista) (Prodotto della ricerca)
- Spontaneous obliteration of MRI-silent cerebral angiomatosis revealed by CT angiography in a patient with Sturge-Weber syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Effect of aging on magnetic resonance measures differentiating progressive supranuclear palsy from Parkinson's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly (Articolo in rivista) (Prodotto della ricerca)
- Patterns of Bold response to cognitive interference in Pd patients on levodopa medication:a comparison between short and long term withdrawal of therapy (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- : UCHL1 is a Parkinson's disease susceptibility gene. (Articolo in rivista) (Prodotto della ricerca)
- Fraxe intermediate alleles are associated with Parkinson's disease (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- : Posture-related cough headache and orthostatic drop in lumbar CSF pressure. (Articolo in rivista) (Prodotto della ricerca)
- Abnormally High Level of SOD1 mRNA in a patient with Amyotrophic Lateral Sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Septo-optic dysplasia plus bilateral perisylvian polymicrogyria: a case report. (Articolo in rivista) (Prodotto della ricerca)
- Brachial Amiotrophic Diplegia associated with a novel Sod-1 mutation: a case report (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Twenty novel mutations revealed by DHPLC analysis of the neurofibromatosis type 1(NF1) gene in southern Italian NF1 patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutational Screening of the Notch3 Gene in Patients from Southern Italy Affected by CADASIL: Identification of Four Novel Pathogenic Mutations (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (Articolo in rivista) (Prodotto della ricerca)
- Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. (Articolo in rivista) (Prodotto della ricerca)
- A splice-junction mutation in SBF2 gene causes autosomal recessive Charcot-Marie-Tooth disease (CMT4B2) in a family from southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Investigating the role of brain-derived neurotrophic factor in relapsing-remitting multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene. (Articolo in rivista) (Prodotto della ricerca)
- Three novel SCN1A Missense mutations in generalized epilepsy with febrile seizures plus (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Voxel-based morphometry of sporadic epileptic patients with mesiotemporal sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Neurobiological mechanisms underlying emotional processing in Relapsing-Remitting Multiple Sclerosis (Articolo in rivista) (Prodotto della ricerca)
- A comprehensive mutation analysis of PINK1 gene in South Italy patients with early and late onset Parkinsonism. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- NOTCH3 gene mutations and mtDNA variations (Abstract/Poster in rivista) (Prodotto della ricerca)
- HOMER1 promoter analysis in Parkinson's disease: association study with psychotic symptoms. (Articolo in rivista) (Prodotto della ricerca)
- Genetic analysis of SCA2 and SCA17 in familial Parkinsons disease. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Variations in two lipid metabolizing genes and susceptibility to sporadic Alzheimers disease. (Abstract/Poster in rivista) (Prodotto della ricerca)
- The DRD2 TaqIA polymorphism associated with changed midbrain volumes in healthy individuals. (Articolo in rivista) (Prodotto della ricerca)
- Genetic association of Homer 1 gene and Levodopa induced dyskinesia (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Neurobiological mechanisms underlying emotional processing in relapsing-remitting multiple sclerosis (Comunicazione a convegno) (Prodotto della ricerca)
- Neurofunctional correlates of cognitive impairment in essential tremor (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Diffusion tensor MRI changes in cerebellar structures of patients with familial essential tremor. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Synchronous pattern distinguishes resting tremor associated with essential tremor from rest tremor of Parkinson's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- LRRK2 mutation analysis in a cohort of Parkinsons Disease patients with a dominant pattern of inheritance from Southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Dentatorubral pallidoluysian atrophy: clinical and genetic analysis of a Sicilian pedigree (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Association study between G-protein-coupled receptor kinase 5 gene and Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Next generation sequencing to identify the causative gene for distal hereditary motor neuropathy in an Italian patient. (Abstract/Comunicazione in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1305)
- Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Machine Learning on Brain MRI Data for Differential Diagnosis of Parkinson's Disease and Progressive Supranuclear Palsy (Articolo in rivista) (Prodotto della ricerca)
- FUS gene analysis in an Italian cohort of sporadic ALS patients. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Conventional MRI and NOTCH3 gene screening in sporadic CADASIL. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Thymosin beta 4 is differentially expressed in thecerebrospinal fluid of Creutzfeldt-Jakob disease patients: a MALDI-TOF MS protein profiling study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- CASP-9 : a susceptibility locus for multiple sclerosis in Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Neurofunctional correlates of personality traits in relapsing-remitting multiple sclerosis: an fMRI study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A comprehensive mutation analysis of PINK1 gene in South Italy patients with early and late onset Parkinsonism. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Hans Berger: father of electroencephalography (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- Blocking out the real diagnosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetic polymorphism of adhesion molecules and multiple sclerosis. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Neocortical thinning in benign mesial temporal lobe epilepsy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- ASSOCIATION STUDY BETWEEN THE LINGO1 GENE AND PARKINSONS DISEASE IN THE ITALIAN POPULATION (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- ROUTINE MRI MEASUREMENT OF THE BRAINSTEM STRUCTURES IN PATIENTS WITH SPINOCEREBELLAR ATAXIA TYPE 1 AND 2 ON: CORRELATION WITH CLINICAL AND GENETIC DATA (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- PYRIDOSTIGMINE FOR ORTHOSTATIC AND MEAL-RELATED HYPOTENSION IN A PATIENT WITH FXTAS (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Proteomic profiling of cerebrospinal fluid in Creutzfeldt-Jakob disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- TWO NOVEL PCDH19 MUTATIONS IN DRAVET SYNDROME (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Archibald Edward Garrod and Alcaptonuria: Inborn errors of metabolism revisited (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutational Analysis of the DCX, LIS1, FLNA genes in patients with neuronal migration disorders from Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Abnormal pressure waves in headache sufferers with bilateral transverse sinus stenosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular studies of the PANK2 gene in patients with PKAN (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Spatial learning induced changes in expression of the ryanodine type II receptor in the rat hippocampus (Articolo in rivista) (Prodotto della ricerca)
- Unilateral basal ganglia atrophy in a patient with tuberous sclerosis complex and hemichorea (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Evolving Cellular Neural Networks for the Automated Segmentation of Multiple Sclerosis Lesions (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- Brain atrophy and lesion load in a large population of patients with multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Brain atrophy evolution and lesion load accrual in multiple sclerosis: a 2-year follow-up study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular characterization of the APP gene in Italian patients with familial Alzheimer disease. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A novel missense mutation of CAPN3 gene in a Italian patient with Limb Girdle Muscular Dystrophy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A novel CAPN3 gene mutation in a LGMD patient from Southern Italy (Abstract/Poster in rivista) (Prodotto della ricerca)
- Disturbo di Alzheimer e tono dell'umore (Contributo in atti di convegno) (Prodotto della ricerca)
- Bilateral transverse sinus stenosis in patients with tinnitus. (Articolo in rivista) (Prodotto della ricerca)
- Validation of the Italian version of the Movement Disorder Society--Unified Parkinson's Disease Rating Scale. (Articolo in rivista) (Prodotto della ricerca)
- brain iron deposition in essential tremor: A quantitative 3-tesla magnetic resonance imaging study (Articolo in rivista) (Prodotto della ricerca)
- Maladaptive plasticity in levodopa-induced dyskinesias and tardive dyskinesias: old and new insights on the effects of dopamine receptor pharmacology (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DISTINGUISHING APPARENTLY SPORADIC CADASIL FROM OTHER LEUCOENCEPHALOPATHIES: THE ROLE OF MRI IN THE NOTCH3 GENE SCREENING (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The neuroanatomical correlates of anxiety in a healthy population: differences between the State-Trait Anxiety 1 Inventory and the Hamilton Anxiety Rating Scale (Articolo in rivista) (Prodotto della ricerca)
- Polymorphisms of dopamine D1 and D2 receptor genes influence penetrance in dopa-responsive dystonia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Linkage analysis in three families from southern Italy with autosomal dominant nocturnal frontal lobe epilepsy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Could the expression of JAGGED1 gene mutations play a role in modulating a CADASIL-Like phenotype? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Two Novel Cysteine-Sparing Notch3 Mutations In Patients With CADASIL (Abstract/Poster in rivista) (Prodotto della ricerca)
- Influence of functional polymorphism in MAO-A on neural network responsible of spatial working memory (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genome wide linkage of a large serbian family with GEFS+. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Hippocampal and thalamic atrophy in temporal lobe epilepsy (TLE): a VBM study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- No association between estrogen receptor 1 gene polymorphisms and susceptibility to multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Preliminary evidence of NOS2A protective effect in patients with Relapsing-Remitting Multiple Sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Impact of brain atrophy and cognitive profile on visuo-motor reorganization in relapsing-remitting multiple sclerosis (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Novel MFN2 mutations and phenotypic variability in patients with Charcot-Marie-Tooth disease type 2A (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Novel MFN2 mutations and phenotypic variability in patients with Charcot-Marie-Tooth disease type 2A (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- A NOVEL POINT MUTATION IN PMP22 GENE IN AN ITALIAN FAMILY WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- MR imaging of middle cerebellar peduncle width: differentiation of MSA from PD. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Acute levodopa and ropinirolo tests in Parkinsons disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- May stimulation of the pre-SMA become a new therapeutic target for PD patients with levodopa-Induced dyskinesias? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differential protein expression of sural nerve biopsies in diabetic polyneuropathy patients. (Abstract/Poster in convegno) (Prodotto della ricerca)
- Diffusivity of Cerebellar Hemispheres Enables Discrimination of Cerebellar or Parkinsonian Multiple System Atrophy from Progressive Supranuclear Palsy-Richardson Syndrome and Parkinson Disease. (Articolo in rivista) (Prodotto della ricerca)
- Genetically-dependent modulation of serotonergic inactivation in the human ventrolateral prefrontal cortex (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Apo-1/Fas gene polymorphisms and multiple sclerosis in Southern Italy. (Abstract/Poster in rivista) (Prodotto della ricerca)
- The BOLD response to episodic encoding and retrieval in RR-MS (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Magnetic resonance support vector machine discriminates essential tremor with rest tremor from tremor-dominant Parkinson disease. (Articolo in rivista) (Prodotto della ricerca)
- Mutational analysis of the Psen2 gene in a group of italian patients with familial Alzheimer's disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The association of single nucleotide E-selectin gene polymorphism with Multiple Sclerosis. (Abstract/Poster in rivista) (Prodotto della ricerca)
- Clinical and genetic analysis of a four-generation family with autosomal dominant cerebellar ataxia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Two snps in the Fas gene on chromosome 10 are not associated with sporadic Alzheimers disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- DESCRIPTION OF A FOUR-GENERATION FAMILY WITH AUTOSOMAL DOMINANT CEREBELLAR ATAXIA: CLINICAL AND GENETIC ANALYSIS (Abstract/Poster in convegno) (Prodotto della ricerca)
- FRAGILE X PREMUTATION ALLELES IN MOVEMENT DISORDERS (Abstract/Poster in convegno) (Prodotto della ricerca)
- Identification of Pen-2 gene mutations in Italian patients with Familial Alzheimers Disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- PERIPHERAL MRNA EXPRESSION OF BRAIN-DERIVED NEUROTROPHIC FACTOR VAL66MET POLYMORPHISM IN PATIENTS WITH RELAPSING-REMITTING MULTIPLE SCLEROSIS (RRMS). (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Tractography in Amyotrophic Lateral Sclerosis using a novel probabilistic tool: a study with tract-based reconstruction compared to voxel-based approach (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Elam-1 genotyping in Italian population with Multiple Sclerosis : molecular characterization of A561C variation. (Abstract/Poster in rivista) (Prodotto della ricerca)
- I fattori di personalità e la working memory: correlati neurofunzionali in pazienti con sclerosi multipla (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- ASSOCIATION OF A GABA(B) GENE HAPLOTYPE AND TEMPORAL LOBE EPILEPSY (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Voxel-based morphometry of temporal lobe epileptic patients with hippocampal sclerosis. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- A longitudinal evaluation of cadasil progression by diffusion magnetic resonance imaging. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Inflammation and epilepsy (Abstract/Poster in convegno) (Prodotto della ricerca)
- G-463A myeloperoxidase polymorphism and parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Polymorphisms and mutational analysis of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- G-PROTEIN-COUPLED RECEPTOR KINASE 5 AND DEMENTIA IN PARKINSONS DISEASE (Abstract/Poster in convegno) (Prodotto della ricerca)
- Gender-related effect of clinical and genetic variables on the cognitive impairment in MS. (Abstract/Poster in rivista) (Prodotto della ricerca)
- APOE-4 allele and disease duration affect verbal memory in mild temporal lobe epilepsy. (Abstract/Poster in rivista) (Prodotto della ricerca)
- DJ-1 gene in late-onset recessive Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Parkin gene analysis in late onset Parkinsons disease families (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- MAO-A genetic variations influence the prefrontal cortical activity associated to a response inhibition task (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Genetic screening of Alzheimer's disease genes in Italian samples yields novel mutations in Presenilin-enhancer 2. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Voxel-based morphometry in pazienti con epilessia del lobo temporale associata a sclerosi ippocampale. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Voxel-based morphometry of temporal lobe epileptic patients with hippocampal sclerosis (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Identificazione di una nuova mutazione nel gene SOD1 in un paziente affetto da Diplegia Brachiale Amiotrofica (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- \"Schwann cells\", a historical landmark in neurology (Comunicazione a convegno) (Prodotto della ricerca)
- Comparison of different techniques in detecting CMT1A/HNPP duplication/deletion (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Narrowing of the critical region in autosomal recessive Spastic Paraplegia linked to the SPG5 locus (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Genetic variation of serotonin receptor 2a gene may influence age at onset but not cognitive performance in patients with temporal lobe epilepsy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Frequency and clinical features of progranulin mutation carriers in a series of patients affected by frontotemporal lobar degeneration: report of a novel mutation. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Ceruloplasmin gene variations and Parkinsons disease: an association study in Southern Italian population. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Ceruloplasmin gene variations and Parkinsons disease: an association study in Southern Italian population. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Clinical and genetic study of an Italian family linked to SPG26 locus (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The minor Alois Alzheimer before the discovery of the eponymous disorder (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- Molecular studies of the PANK2 gene in patients with PKAN (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- MOLECULAR ANALYSIS OF THE SCN1A GENE IN SOUTHERN ITALIAN PATIENTS WITH SEVERE MYOCLONIC EPILEPSY OF INFANCY. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genetic study of an Italian family affected by autosomal dominant distal motor neuronopathy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Analysis of the NOTCH3 gene in two couples of twin affected by CADASIL. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Apparently sporadic motor neuron disease in a family with a novel G61R gene mutation: uncompleted penetrance or a chance association? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Colour vision in patients with Parkinson disease. Usefulness of three pseudoisochromatic tests (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- Amyloid beta precursor protein mutation (D678N) in a patient with early-onset familial Alzheimer's disease: clinical characteristics and genetic identification (Abstract/Poster in rivista) (Prodotto della ricerca)
- Anti-N-methyl-D-aspartate-glutamic-receptor encephalitis presenting as paroxysmal exercise-induced foot weakness. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Computer-assisted cognitive rehabilitation of attention deficits for multiple sclerosis: a randomized trial with fMRI correlates (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Migraine attack triggering a generalised seizure: is this a case of migralepsy or ictal epileptic headache? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Topiramate and temporal lobe epilepsy: an open-label study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cerebellar-parietal dysfunctions in multiple sclerosis patients with cerebellar signs. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Investigation of the inducible nitric oxide synthase gene (NOS2A) polymorphisms in Multiple Sclerosis. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- SUGGESTIVE EVIDENCE FOR LINKAGE TO CHROMOSOME 4qter FOR AUTOSOMAL DOMINANT DISTAL MOTOR NEURONOPATHY (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- INDIVIDUAZIONE DI UN NUOVO LOCUS SUL CROMOSOMA 4 RESPONSABILE DI NEUROPATIA MOTORIA DISTALE AUTOSOMICA DOMINANTE (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Two SNPs in the Fas gene on chromosome 10 are not associated with Sporadic Alzheimers Disease in southern Italy. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Medial Temporal Lobe Activity In Cognitively Unimpaired Patients With Sporadic Amyotrophic Lateral Sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Investigation of the inducible nitric oxide synthase gene (NOS2A) polymorphisms in Multiple Sclerosis. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- The presence of M129V of PRNP gene influences mild temporal lobe epilepsy in women. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Measurement of the midbrain and pons areas for differentiating Progressive supranuclear palsy from Parkinsons disease and Multiple System Atrophy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- I geni SIL1 e SARA2 mutati responsabili della Sindrome di Marinesco-Sjögren e della malattia di ritenzione dei chilomicroni in una famiglia proveniente dal Sud Italia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Parkin mutations in patients with early onset parkinsonism. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Angiogenin Gene And Amyotrophic Lateral Sclerosis In Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Coautore
- Responsabile di
- Nome
- Cognome
- Afferisce a
- Ha pubblicazioni con
Incoming links:
- Autore CNR
- Sporadic ALS is not associated with VAPB gene mutations in Southern Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Disturbo di Alzheimer e tono dell'umore (Contributo in atti di convegno) (Prodotto della ricerca)
- Alois Alzheimer: a hundred years after the discovery of the eponymous disorder (Articolo in rivista) (Prodotto della ricerca)
- Hyperhomocysteinemia is associated with cognitive impairment in multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetic screening for familial amyloid polyneuropathy in patients with idiopathic carpal tunnel syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Natural history of CMT1A including QoL: a 2-year prospective study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): a proteiform neurological disease of expanding importance. Reasons for establishing an Italian Registry. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Treatment of multiple sclerosis with interferon beta in clinical practice: 2-year follow-up data from the South Italy Mobile MRI Project. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson's disease and progressive supranuclear palsy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Isolated unilateral abducens palsy in idiopathic intracranial hypertension without papilledema (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MRI evidence of mesial temporal sclerosis in sporadic \"benign\" temporal lobe epilepsy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cognitive dysfunction in patients with relapsing-remitting multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association between the M129V variant allele of PRNP gene andmild temporal lobe epilepsy in women (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The role of VLA4 polymorphisms in Multiple Sclerosis: an association study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Hormonal replacement therapy in women with Parkinson disease and levodopa-induced dyskinesia: a crossover trial. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reply to (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Relationship between clinical examination, quality of life, disability and depression in CMT patients: Italian multicenter study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Apparent diffusion coefficient of the superior cerebellar peduncle differentiates progressive supranuclear palsy from Parkinson's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ventro-Lateral Prefrontal activity during working memory processing is modulated by MAO A genetic variation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Impact of catechol-O-methyltransferase Val(108/158) Met genotype on hippocampal and prefrontal gray matter volume. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MR imaging index for differentiation of progressive supranuclear palsy from Parkinson disease and the Parkinson variant of multiple system atrophy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A phenotyphic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: PSEN2. Disease: Alzheimer disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: NOTCH3. Disease CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: NOTCH3. Disease: CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Gene Symbol: MECP2. Disease: Rett Syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Spinal glioneuronal tumor with neuropil-like islands and meningeal dissemination: histopathological and radiological study of a pediatric case. (Articolo in rivista) (Prodotto della ricerca)
- A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. (Articolo in rivista) (Prodotto della ricerca)
- The fragile X premutation presenting as postprandial hypotension. (Articolo in rivista) (Prodotto della ricerca)
- Association between Synapsin III gene promoter polymorphisms and multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms. (Articolo in rivista) (Prodotto della ricerca)
- Gender-related effect of clinical and genetic variables on the cognitive impairment in multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Interaction between Apolipoprotein epsilon 4 and traumatic brain injury in patients with Alzheimer's disease and Mild Cognitive Impairment (Articolo in rivista) (Prodotto della ricerca)
- A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). (Articolo in rivista) (Prodotto della ricerca)
- The gender effect in juvenile Huntington disease patients of Italian origin (Articolo in rivista) (Prodotto della ricerca)
- Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? (Articolo in rivista) (Prodotto della ricerca)
- Quetiapine and clozapine in parkinsonian patients with dopaminergic psychosis. (Articolo in rivista) (Prodotto della ricerca)
- Cysteine-sparing notch3 mutations: cadasil or cadasil variants? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dysbindin C-A-T haplotype is associated with thicker medial orbitofrontal cortex in healthy population (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Voluptuary habits and clinical subtypes of Parkinson's disease: the FRAGAMP case-control study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Clinical, genetic and magnetic resonance findings in an Italian patient affected by L: -2-hydroxyglutaric aciduria. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Myocardial (123)I-MIBG scintigraphy for differentiation of Lewy bodies disease from FTD. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Lack of interaction between LRP1 and A2M polymorphisms for the risk of Alzheimer disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Patterns of brain atrophy in Parkinson's disease, progressive supranuclear palsy and multiple system atrophy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MAO A VNTR polymorphism and amygdala volume in healthy subjects. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Accuracy of magnetic resonance parkinsonism index for differentiation of progressive supranuclear palsy from probable or possible Parkinson disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- MRI measurements predict PSP in unclassifiable parkinsonisms: a follow-up study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Combined use of cardiac m-i123-iodobenzylguanidine scintigraphy and (123) I-fp-cit single photon emission computed tomography in older adults with rapid eye movement sleep behavior disorder (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reproductive factors and Parkinson's disease: A multicenter case-control study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Prefrontal alterations in Parkinsons disease patients with levodopa-induced dyskinesias during fMRI motor tasks (Articolo in rivista) (Prodotto della ricerca)
- Blink reflex recovery cycle in patients with dystonic tremor: a cross-sectional study (Articolo in rivista) (Prodotto della ricerca)
- The relation between the names and designations of syphilis in the 16th century and its clinical gravity (Articolo in rivista) (Prodotto della ricerca)
- The spectrum of Notch3 mutations in 28 Italian CADASIL families (Articolo in rivista) (Prodotto della ricerca)
- A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- Proteomics of Bovine Myelin Sheath: Characterization of a Truncated Form of P0 by MALDI-TOF/TOF Mass Spectrometry (Articolo in rivista) (Prodotto della ricerca)
- The upper limit of normal CSF opening pressure is related to bilateral transverse sinus stenosis in headache sufferers. (Articolo in rivista) (Prodotto della ricerca)
- First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. (Articolo in rivista) (Prodotto della ricerca)
- Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity (Articolo in rivista) (Prodotto della ricerca)
- Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: MECP2. Disease: Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers (Articolo in rivista) (Prodotto della ricerca)
- Subcortical motor plasticity in patients with sporadic ALS: An fMRI study (Articolo in rivista) (Prodotto della ricerca)
- Levetiracetam in patients with generalised epilepsy and myoclonic seizures: an open label study (Articolo in rivista) (Prodotto della ricerca)
- Reflex periodic spasms induced by eating (Articolo in rivista) (Prodotto della ricerca)
- Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern. (Articolo in rivista) (Prodotto della ricerca)
- Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation. (Articolo in rivista) (Prodotto della ricerca)
- SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. (Articolo in rivista) (Prodotto della ricerca)
- Fas antigen and sporadic Alzheimer's disease in Southern Italy:evaluation of two polymorphisms in the TNFRSF6 gene. (Articolo in rivista) (Prodotto della ricerca)
- Usefulness of a morning routine EEG recording in patients with juvenile myoclonic epilepsy. (Articolo in rivista) (Prodotto della ricerca)
- Hepatonecrosis and cholangitis related to long-term phenobarbital therapy: an autopsy report of two patients. (Articolo in rivista) (Prodotto della ricerca)
- Cardiac MIBG scintigraphy in Primary Progressive Freezing Gait. (Articolo in rivista) (Prodotto della ricerca)
- Bilateral transverse sinus stenosis and idiopathic intracranial hypertension without papilledema in chronic tension-type headache. (Articolo in rivista) (Prodotto della ricerca)
- Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. (Articolo in rivista) (Prodotto della ricerca)
- Spontaneous obliteration of MRI-silent cerebral angiomatosis revealed by CT angiography in a patient with Sturge-Weber syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis (Articolo in rivista) (Prodotto della ricerca)
- Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. (Articolo in rivista) (Prodotto della ricerca)
- Startle epilepsy complicating aspartylglucosaminuria. (Articolo in rivista) (Prodotto della ricerca)
- FRAXE intermediate alleles are associated with Parkinson's disease. (Articolo in rivista) (Prodotto della ricerca)
- Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene. (Articolo in rivista) (Prodotto della ricerca)
- Investigating the role of brain-derived neurotrophic factor in relapsing-remitting multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (Articolo in rivista) (Prodotto della ricerca)
- Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. (Articolo in rivista) (Prodotto della ricerca)
- : Posture-related cough headache and orthostatic drop in lumbar CSF pressure. (Articolo in rivista) (Prodotto della ricerca)
- Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly (Articolo in rivista) (Prodotto della ricerca)
- : UCHL1 is a Parkinson's disease susceptibility gene. (Articolo in rivista) (Prodotto della ricerca)
- The DRD2 TaqIA polymorphism associated with changed midbrain volumes in healthy individuals. (Articolo in rivista) (Prodotto della ricerca)
- HOMER1 promoter analysis in Parkinson's disease: association study with psychotic symptoms. (Articolo in rivista) (Prodotto della ricerca)
- Neurobiological mechanisms underlying emotional processing in Relapsing-Remitting Multiple Sclerosis (Articolo in rivista) (Prodotto della ricerca)
- Voxel-based morphometry of sporadic epileptic patients with mesiotemporal sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Neurofunctional correlates of personality traits in relapsing-remitting multiple sclerosis: an fMRI study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Thymosin beta 4 is differentially expressed in thecerebrospinal fluid of Creutzfeldt-Jakob disease patients: a MALDI-TOF MS protein profiling study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- CASP-9 : a susceptibility locus for multiple sclerosis in Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Conventional MRI and NOTCH3 gene screening in sporadic CADASIL. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Diffusion tensor MRI changes in cerebellar structures of patients with familial essential tremor. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Synchronous pattern distinguishes resting tremor associated with essential tremor from rest tremor of Parkinson's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Abnormal pressure waves in headache sufferers with bilateral transverse sinus stenosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Archibald Edward Garrod and Alcaptonuria: Inborn errors of metabolism revisited (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Proteomic profiling of cerebrospinal fluid in Creutzfeldt-Jakob disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Neocortical thinning in benign mesial temporal lobe epilepsy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Blocking out the real diagnosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Unilateral basal ganglia atrophy in a patient with tuberous sclerosis complex and hemichorea (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis (Articolo in rivista) (Prodotto della ricerca)
- Mixed tremors with integrity of nigrostriatal system: a clinical and DAT-SPECT follow-up study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: MECP2. Disease: Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- Bilateral transverse sinus stenosis predicts IIH without papilledema in patients with migraine (Articolo in rivista) (Prodotto della ricerca)
- Adaptive cortical changes and the functional correlates of visuo-motor integration in relapsing-remitting multiple sclerosis (Articolo in rivista) (Prodotto della ricerca)
- MR imaging of middle cerebellar peduncle width: differentiation of multiple system atrophy from Parkinson disease. (Articolo in rivista) (Prodotto della ricerca)
- Clinical and genetic findings in 26 Italian patients with Lafora disease. (Articolo in rivista) (Prodotto della ricerca)
- Empty sella and bilateral transverse sinus stenosis predict raised intracranial pressure in the absence of papilloedema: a preliminary study. (Articolo in rivista) (Prodotto della ricerca)
- Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (Articolo in rivista) (Prodotto della ricerca)
- A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. (Articolo in rivista) (Prodotto della ricerca)
- Impact of individual cognitive profile on visuo-motor reorganization in relapsing-remitting multiple sclerosis (Articolo in rivista) (Prodotto della ricerca)
- Dopaminergic modulation of cognitive interference after pharmacological washout in Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- Gene dosage influences the age at onset of SCA2 in a family from southern Italy (Articolo in rivista) (Prodotto della ricerca)
- LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. (Articolo in rivista) (Prodotto della ricerca)
- Two-dimensional gel electrophoresis of peripheral nerve proteins: Optimized sample preparation. (Articolo in rivista) (Prodotto della ricerca)
- CSF opening pressure: reference interval and the effect of body mass index (Articolo in rivista) (Prodotto della ricerca)
- Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. (Articolo in rivista) (Prodotto della ricerca)
- Anti-GM1antibodies are not associated with cerebral atrophy in patients with multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Hippocampal and Thalamic Atrophy in Pharmaco-Sensitive Temporal Lobe Epilepsy: a VBM study (Articolo in rivista) (Prodotto della ricerca)
- Essential head tremor is associated with cerebellar vermis atrophy: a volumetric and voxel-based morphometry MRI study. (Articolo in rivista) (Prodotto della ricerca)
- MAO A VNTR polymorphism and variation in human morphology: a VBM study. (Articolo in rivista) (Prodotto della ricerca)
- Genetically-dependent modulation of serotonergic inactivation in the human prefrontal cortex. (Articolo in rivista) (Prodotto della ricerca)
- Preliminary evidences of a NOS2A protective effect from relapsing-remitting multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Alpha-synuclein promoter haplotypes and dementia in Parkinson's disease. (Articolo in rivista) (Prodotto della ricerca)
- Somatosensory evoked potentials reflect the upper limb motor performance in multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Continuous dopaminergic stimulation: is it the answer to the motor complications of levodopa? (Articolo in rivista) (Prodotto della ricerca)
- Health-related quality of life in epilepsy: findings obtained with a new Italian instrument. (Articolo in rivista) (Prodotto della ricerca)
- Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. (Articolo in rivista) (Prodotto della ricerca)
- Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Gene conversion events in adult-onset spinal muscular atrophy. (Articolo in rivista) (Prodotto della ricerca)
- Knockdown of the type 2 and 3 inositol 1,4,5-trisphosphate receptors suppresses muscarinic antinociception in mice. (Articolo in rivista) (Prodotto della ricerca)
- Monomorphism of human cytochrome c. (Articolo in rivista) (Prodotto della ricerca)
- Normal sleep-wake and circadian rhythms in a case of Gerstmann-Sträussler-Sheinker (GSS) disease. (Articolo in rivista) (Prodotto della ricerca)
- Anti-GM1 antibodies are not associated with cerebral atrophy in patients with multiple sclerosis. (Articolo in rivista) (Prodotto della ricerca)
- Cerebellar atrophy in Essential tremor using automated segmentation method. (Articolo in rivista) (Prodotto della ricerca)
- The effects of BDNF Val(66)Met polymorphism on brain function in controls and patients with multiple sclerosis: An imaging genetic study. (Articolo in rivista) (Prodotto della ricerca)
- Cognitive deficits in multiple sclerosis patients with cerebellar symptoms. (Articolo in rivista) (Prodotto della ricerca)
- The FRAGAMP study: environmental and genetic factors in Parkinson's disease, methods and clinical features. (Articolo in rivista) (Prodotto della ricerca)
- Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study. (Articolo in rivista) (Prodotto della ricerca)
- Morphological correlates of MAO A VNTR polymorphism: new evidence from cortical thickness measurement. (Articolo in rivista) (Prodotto della ricerca)
- Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia (Articolo in rivista) (Prodotto della ricerca)
- A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. (Articolo in rivista) (Prodotto della ricerca)
- A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. (Articolo in rivista) (Prodotto della ricerca)
- Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study. (Articolo in rivista) (Prodotto della ricerca)
- Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in Southern Italy. (Articolo in rivista) (Prodotto della ricerca)
- Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. (Articolo in rivista) (Prodotto della ricerca)
- MRI measurements of brainstem structures in patients with Richardson's syndrome, progressive supranuclear palsyparkinsonism, and Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- Wine drinking and essential tremor: A possible protective role (Articolo in rivista) (Prodotto della ricerca)
- Leber's hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man. (Articolo in rivista) (Prodotto della ricerca)
- A Cellular Neural Network methodology for the automated segmentation of multiple sclerosis lesions (Articolo in rivista) (Prodotto della ricerca)
- Neuroanatomical correlates of psychogenic non-epileptic seizures: a VBM and Cortical Thickness study (Articolo in rivista) (Prodotto della ricerca)
- Monotherapy for partial epilepsy: focus on levetiracetam. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- COMT inhibition with tolcapone in the treatment algorithm of patients with Parkinson's disease (PD): relevance for motor and non-motor features. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Neuroimaging of Essential Tremor: What is the Evidence for Cerebellar Involvement? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Investigation of the inducible nitric oxide synthase gene (NOS2A) polymorphisms in Multiple Sclerosis. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Investigation of the inducible nitric oxide synthase gene (NOS2A) polymorphisms in Multiple Sclerosis. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- The presence of M129V of PRNP gene influences mild temporal lobe epilepsy in women. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Medial Temporal Lobe Activity In Cognitively Unimpaired Patients With Sporadic Amyotrophic Lateral Sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Two SNPs in the Fas gene on chromosome 10 are not associated with Sporadic Alzheimers Disease in southern Italy. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- SUGGESTIVE EVIDENCE FOR LINKAGE TO CHROMOSOME 4qter FOR AUTOSOMAL DOMINANT DISTAL MOTOR NEURONOPATHY (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- INDIVIDUAZIONE DI UN NUOVO LOCUS SUL CROMOSOMA 4 RESPONSABILE DI NEUROPATIA MOTORIA DISTALE AUTOSOMICA DOMINANTE (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Parkin mutations in patients with early onset parkinsonism. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- I geni SIL1 e SARA2 mutati responsabili della Sindrome di Marinesco-Sjögren e della malattia di ritenzione dei chilomicroni in una famiglia proveniente dal Sud Italia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Measurement of the midbrain and pons areas for differentiating Progressive supranuclear palsy from Parkinsons disease and Multiple System Atrophy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Coadministration of entacapone with levodopa attenuates severità of wearing off in PD patients. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Could the expression of Jagged1 gene mutations play a role in modulating a CADASIL-like phenotype? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Angiogenin Gene And Amyotrophic Lateral Sclerosis In Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The Tau haplotype contributes to susceptibility to Parkinsons disease in a Souther Italy population. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Pink1 mutations and the risk of Parkinsons disease in family members of Southern Italy (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Brain-Derived Neurotrophic Factor Val66Met polymorphism and peripheral mrna expression in patients with Relapsing Remitting Multiple Sclerosis (RRMS). (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- Ventro-Lateral Prefrontal activity during working-memory processing is modulated by Monoamine oxidase-A genetic variation (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Brain-derived neurotrophic factor val66met polymorphysm and the cortical response to spatial working memory (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Functional changes in the activity of cerebellum and frontostriatal regions during externally and internally timed movement in Parkinsons disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Adaptive cortical changes and the functional correlates of visuo-motor integration in relapsing-remitting multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A family with dominant optic atrophy and deafness due to a novel Opa1 mutation. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The association of single nucleotide E-selectin gene polymorphism with Multiple Sclerosis. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Dopaminergic modulation of cognitive interference after pharmacological washout in Parkinsons disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Impact of individual cognitive profile on visuo-motor reorganization in relapsing-remitting multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Thymosin beta 4 is overexpressed in Cerebrospinal fluid of Creutzfeldt-Jacob disease patients: a MALDI-TOF MS protein profiling study. (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- Proteomic Analysis of Cerebrospinal Fluid in Multiple Sclerosis Patients. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Two-dimensional gel electrophoresis of peripheral nerve proteins: Optimized sample preparation (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Proteomics of Bovine Myelin sheath: Characterization of a truncated form of P0 by MALDI-TOF/TOF Mass Spectrometry (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Frequency analysis of autosomal dominant spinocerebellar ataxia (AD-SCA) in the patients from southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Myocardial (123)Metaiodobenzylguanidine uptake in genetic Parkinson's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Homer1 promoter analysis in Parkinsons disease: association study with psycotic symptoms. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Personality predicts functional activation during working memory demand in patients with multiple sclerosis (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Studio di Voxel-based morphometry in pazienti con epilessia del lobo temporale (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- NOS2A AS CANDIDATE GENE IN RELAPSING-REMITTING MULTIPLE SCLEROSIS: AN HAPLOTYPE STUDY BY USING A SUBSETS OF SNPs. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel mutation in FKRP gene in Italian patient with LGMD. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Caspase-9 gene C93T polymorphism and Multiple Sclerosis patients from Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Presenilin-2 gene mutation presenting as Lewy Body dementia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- GIGYF2 (TRNC15) MUTATION ANALYSIS IN PATIENTS WITH FAMILIAL PARKINSON DISEASE WITH AUTOSOMAL-DOMINANT TRANSMISSION (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Genetic study of SCN1A-related epilepsies in southern Italy. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Clinical and genetic analysis of a four-generation family with autosomal dominant cerebellar ataxia (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutational Screening in Patient with Charcot-Marie-Tooth Disease Type 2A (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- c.1392+2T>C mutation in MFN2 affects splicing mechanism in Charcot-Marie-Tooth (CMT) 2A family. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Administration of levodopa modulates the neural and behavioural response associated with cognitive interference in PD patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Three novel SCN1A Missense mutations in generalized epilepsy with febrile seizures plus (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A splice-junction mutation in SBF2 gene causes autosomal recessive Charcot-Marie-Tooth disease (CMT4B2) in a family from southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Twenty novel mutations revealed by DHPLC analysis of the neurofibromatosis type 1(NF1) gene in southern Italian NF1 patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutational Screening of the Notch3 Gene in Patients from Southern Italy Affected by CADASIL: Identification of Four Novel Pathogenic Mutations (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Abnormally High Level of SOD1 mRNA in a patient with Amyotrophic Lateral Sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Brachial Amiotrophic Diplegia associated with a novel Sod-1 mutation: a case report (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Patterns of Bold response to cognitive interference in Pd patients on levodopa medication:a comparison between short and long term withdrawal of therapy (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Fraxe intermediate alleles are associated with Parkinson's disease (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Neurobiological mechanisms underlying emotional processing in relapsing-remitting multiple sclerosis (Comunicazione a convegno) (Prodotto della ricerca)
- Neurofunctional correlates of cognitive impairment in essential tremor (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Genetic association of Homer 1 gene and Levodopa induced dyskinesia (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Variations in two lipid metabolizing genes and susceptibility to sporadic Alzheimers disease. (Abstract/Poster in rivista) (Prodotto della ricerca)
- Genetic analysis of SCA2 and SCA17 in familial Parkinsons disease. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A comprehensive mutation analysis of PINK1 gene in South Italy patients with early and late onset Parkinsonism. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- NOTCH3 gene mutations and mtDNA variations (Abstract/Poster in rivista) (Prodotto della ricerca)
- A comprehensive mutation analysis of PINK1 gene in South Italy patients with early and late onset Parkinsonism. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- FUS gene analysis in an Italian cohort of sporadic ALS patients. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Next generation sequencing to identify the causative gene for distal hereditary motor neuropathy in an Italian patient. (Abstract/Comunicazione in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1305)
- Dentatorubral pallidoluysian atrophy: clinical and genetic analysis of a Sicilian pedigree (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Association study between G-protein-coupled receptor kinase 5 gene and Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- LRRK2 mutation analysis in a cohort of Parkinsons Disease patients with a dominant pattern of inheritance from Southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Molecular studies of the PANK2 gene in patients with PKAN (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- TWO NOVEL PCDH19 MUTATIONS IN DRAVET SYNDROME (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutational Analysis of the DCX, LIS1, FLNA genes in patients with neuronal migration disorders from Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- PYRIDOSTIGMINE FOR ORTHOSTATIC AND MEAL-RELATED HYPOTENSION IN A PATIENT WITH FXTAS (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- ROUTINE MRI MEASUREMENT OF THE BRAINSTEM STRUCTURES IN PATIENTS WITH SPINOCEREBELLAR ATAXIA TYPE 1 AND 2 ON: CORRELATION WITH CLINICAL AND GENETIC DATA (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- ASSOCIATION STUDY BETWEEN THE LINGO1 GENE AND PARKINSONS DISEASE IN THE ITALIAN POPULATION (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Genetic polymorphism of adhesion molecules and multiple sclerosis. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Hans Berger: father of electroencephalography (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- DISTINGUISHING APPARENTLY SPORADIC CADASIL FROM OTHER LEUCOENCEPHALOPATHIES: THE ROLE OF MRI IN THE NOTCH3 GENE SCREENING (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Two Novel Cysteine-Sparing Notch3 Mutations In Patients With CADASIL (Abstract/Poster in rivista) (Prodotto della ricerca)
- Could the expression of JAGGED1 gene mutations play a role in modulating a CADASIL-Like phenotype? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Polymorphisms of dopamine D1 and D2 receptor genes influence penetrance in dopa-responsive dystonia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Linkage analysis in three families from southern Italy with autosomal dominant nocturnal frontal lobe epilepsy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- MR imaging of middle cerebellar peduncle width: differentiation of MSA from PD. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Acute levodopa and ropinirolo tests in Parkinsons disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- A NOVEL POINT MUTATION IN PMP22 GENE IN AN ITALIAN FAMILY WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Novel MFN2 mutations and phenotypic variability in patients with Charcot-Marie-Tooth disease type 2A (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Novel MFN2 mutations and phenotypic variability in patients with Charcot-Marie-Tooth disease type 2A (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Preliminary evidence of NOS2A protective effect in patients with Relapsing-Remitting Multiple Sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Impact of brain atrophy and cognitive profile on visuo-motor reorganization in relapsing-remitting multiple sclerosis (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Hippocampal and thalamic atrophy in temporal lobe epilepsy (TLE): a VBM study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- No association between estrogen receptor 1 gene polymorphisms and susceptibility to multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Influence of functional polymorphism in MAO-A on neural network responsible of spatial working memory (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genome wide linkage of a large serbian family with GEFS+. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Clinical and genetic analysis of a four-generation family with autosomal dominant cerebellar ataxia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Two snps in the Fas gene on chromosome 10 are not associated with sporadic Alzheimers disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutational analysis of the Psen2 gene in a group of italian patients with familial Alzheimer's disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The association of single nucleotide E-selectin gene polymorphism with Multiple Sclerosis. (Abstract/Poster in rivista) (Prodotto della ricerca)
- Apo-1/Fas gene polymorphisms and multiple sclerosis in Southern Italy. (Abstract/Poster in rivista) (Prodotto della ricerca)
- The BOLD response to episodic encoding and retrieval in RR-MS (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genetically-dependent modulation of serotonergic inactivation in the human ventrolateral prefrontal cortex (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Differential protein expression of sural nerve biopsies in diabetic polyneuropathy patients. (Abstract/Poster in convegno) (Prodotto della ricerca)
- G-463A myeloperoxidase polymorphism and parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Inflammation and epilepsy (Abstract/Poster in convegno) (Prodotto della ricerca)
- Voxel-based morphometry of temporal lobe epileptic patients with hippocampal sclerosis. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- A longitudinal evaluation of cadasil progression by diffusion magnetic resonance imaging. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- I fattori di personalità e la working memory: correlati neurofunzionali in pazienti con sclerosi multipla (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- ASSOCIATION OF A GABA(B) GENE HAPLOTYPE AND TEMPORAL LOBE EPILEPSY (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- PERIPHERAL MRNA EXPRESSION OF BRAIN-DERIVED NEUROTROPHIC FACTOR VAL66MET POLYMORPHISM IN PATIENTS WITH RELAPSING-REMITTING MULTIPLE SCLEROSIS (RRMS). (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Elam-1 genotyping in Italian population with Multiple Sclerosis : molecular characterization of A561C variation. (Abstract/Poster in rivista) (Prodotto della ricerca)
- Identification of Pen-2 gene mutations in Italian patients with Familial Alzheimers Disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- DESCRIPTION OF A FOUR-GENERATION FAMILY WITH AUTOSOMAL DOMINANT CEREBELLAR ATAXIA: CLINICAL AND GENETIC ANALYSIS (Abstract/Poster in convegno) (Prodotto della ricerca)
- FRAGILE X PREMUTATION ALLELES IN MOVEMENT DISORDERS (Abstract/Poster in convegno) (Prodotto della ricerca)
- G-PROTEIN-COUPLED RECEPTOR KINASE 5 AND DEMENTIA IN PARKINSONS DISEASE (Abstract/Poster in convegno) (Prodotto della ricerca)
- Polymorphisms and mutational analysis of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- MAO-A genetic variations influence the prefrontal cortical activity associated to a response inhibition task (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Parkin gene analysis in late onset Parkinsons disease families (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- DJ-1 gene in late-onset recessive Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Gender-related effect of clinical and genetic variables on the cognitive impairment in MS. (Abstract/Poster in rivista) (Prodotto della ricerca)
- APOE-4 allele and disease duration affect verbal memory in mild temporal lobe epilepsy. (Abstract/Poster in rivista) (Prodotto della ricerca)
- Narrowing of the critical region in autosomal recessive Spastic Paraplegia linked to the SPG5 locus (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Comparison of different techniques in detecting CMT1A/HNPP duplication/deletion (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Identificazione di una nuova mutazione nel gene SOD1 in un paziente affetto da Diplegia Brachiale Amiotrofica (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Voxel-based morphometry of temporal lobe epileptic patients with hippocampal sclerosis (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Voxel-based morphometry in pazienti con epilessia del lobo temporale associata a sclerosi ippocampale. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Genetic screening of Alzheimer's disease genes in Italian samples yields novel mutations in Presenilin-enhancer 2. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Ceruloplasmin gene variations and Parkinsons disease: an association study in Southern Italian population. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Clinical and genetic study of an Italian family linked to SPG26 locus (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Ceruloplasmin gene variations and Parkinsons disease: an association study in Southern Italian population. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genetic variation of serotonin receptor 2a gene may influence age at onset but not cognitive performance in patients with temporal lobe epilepsy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Frequency and clinical features of progranulin mutation carriers in a series of patients affected by frontotemporal lobar degeneration: report of a novel mutation. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Analysis of the NOTCH3 gene in two couples of twin affected by CADASIL. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Apparently sporadic motor neuron disease in a family with a novel G61R gene mutation: uncompleted penetrance or a chance association? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genetic study of an Italian family affected by autosomal dominant distal motor neuronopathy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Molecular studies of the PANK2 gene in patients with PKAN (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- MOLECULAR ANALYSIS OF THE SCN1A GENE IN SOUTHERN ITALIAN PATIENTS WITH SEVERE MYOCLONIC EPILEPSY OF INFANCY. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The minor Alois Alzheimer before the discovery of the eponymous disorder (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- Colour vision in patients with Parkinson disease. Usefulness of three pseudoisochromatic tests (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- BRAIN-DERIVED NEUROTROPHIC FACTOR (BDNF) GENE IN RELAPSING-REMITTING MULTIPLE SCLEROSIS (RRMS): LONGITUDINAL EVALUATION (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Is M129V of the Prion protein gene ( PRNP) associated with mild temporal lobe epilepsy? (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Traumatic Brain Injury and APOE-e4: cause or risk of Alzheimers Disease? (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
- Identificazione di una nuova mutazione nel gene OPA1 in una famiglia affetta da atrofia ottica e sordità. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Trauma cranico e genotipo APO-E: causa o rischio di malatia di Alzheimer? (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- HNPP due to a novel frameshift mutation of PMP22 gene (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- HNPP Due To A Novel Frameshift Mutation Of The PMP22 Gene (Comunicazione a convegno) (Prodotto della ricerca)
- SUGGESTIVE EVIDENCE FOR LINKAGE TO CHROMOSOME 4qter FOR AUTOSOMAL DOMINANT DISTAL MOTOR NEURONOPATHY (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Neurofibromatosis Type 2 (Nf2) In Children Under 1 Year Of Age: A Clinical And Molecular Study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A Misdiagnosed case of myasthenia gravis with head drop (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A case of probable sporadic Creutzfeldt-Jacob disease with unusual presentation (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Investigation of the relationship between anti-GM1 antibodies and brain atrophy in multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Mutational analysis of SCN2A gene in italian families with benign familial neonatal-infantile seizures (BFNIS). (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Clinic and genetic study in a family with a clinical picture of pantothenase kinase-associated neurodegeneration. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Alpha-synuclein promoter haplotypes and dementia in Parkinsons disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- DAT SCAN 123 I Ioflupane study in early Parkinsons disease and essential tremor (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The Fragampp study environmental and genetic factors in Parkinsons disease and Parkinsonism. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Charcot-Marie-Tooth X-linked: five novel mutations in Italian patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The role of mri in the NOTCH3 gene screening of apparently sporadic CADASIL (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Two novel NOTCH3 mutations not involving cysteine residues in CADASIL patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Parkin mutations analysis in patients with sporadic early-onset Parkinsons disease (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- DJ-1 gene confers susceptibility to Parkinsons disease. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Hippocampal And Thalamic Atrophy In Temporal Lobe Epilepsy (TLE): A VBM Study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Peripheral mRNA expression of brain-derived neurotrophic factor Val66Met polymorphism in patients with relapsing-remitting multiple sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Cerebellar atrophy in patients with familial Essential Tremor: a VBM study (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Visualizing genetic influences on Human brain function: Interactive effects of BNDF and COMT allelic variations on a spatial working memory network (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Glucocerebrosidase gene mutations are associated with Parkinsons disease in a population from Souther Italy. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Hippocampal and thalamic atrophy in Sporadic Benign Temporal Lobe Epilepsy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Relapsing-remitting multiple sclerosis and protective effect of a NOS2A gene variant (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Sca17 as cause of early-onset dementia in sothern Italy: report of a new family. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Antigene Fas e malattia di Alzheimer sporadica: valutazione analitica di due polimorfismi nel gene TNFRSF6. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Preliminary evidences of a NOS2A protective effect from Relapsing-Remitting Multiple Sclerosis (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Proteomic approach to the study of the nervous system disease. (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Alpha synuclein in familial parkinsons disease and lewy body dementia. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosys type 1 (NF1) gene in unselected southern Italian NF1 patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Glutathione Transferase enzyme activity in leukocytes of Parkinson's Disease (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Comparative study between western blotting and ELISA for the determination of anti-MBP antibodies in serum of patients with Multiple Sclerosis (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Essential head tremor is associated with cerebellar vermis atrophy: a volumetric and voxel-based morphometry MRI study (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Cerebellar dysfunction is associated with cognitive impairment in multiple sclerosis. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Voxel-based morphometry of temporal lobe epileptic patients (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- HAPLOTYPIC INVESTIGATION OF SNPS AT THE NOS2A LOCUS IN RELAPSING-REMITTING MULTIPLE SCLEROSIS. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A new intronic deletion of presenilin 1 gene in a patient with early onset Alzheimer Disease (Abstract/Poster in rivista) (Prodotto della ricerca)
- Mutational screening of the CAPN3 in LGMD patients from Southern Italy. (Abstract/Poster in rivista) (Prodotto della ricerca)
- GENETIC STUDY OF SCN1A-RELATED EPILEPSIES IN SOUTHERN ITALY (Abstract/Poster in convegno) (Prodotto della ricerca)
- IDENTIFICATION OF A NOVEL HOMOZYGOUS MUTATION IN THE SIL1 GENE IN MARINESCO-SJOGREN SYNDROME (Abstract/Poster in convegno) (Prodotto della ricerca)
- ASSOCIATION STUDY BETWEEN HFE, TF , TFR1 GENES AND PARKINSONS DISEASE (Abstract/Poster in convegno) (Prodotto della ricerca)
- PARKIN, PINK1 AND DJ-1 HETEROZYGOUS MUTATIONS IN SOUTHERN ITALIAN PATIENTS WITH EARLY-ONSET PARKINSONISM (Abstract/Poster in convegno) (Prodotto della ricerca)
- MUTATIONAL DETECTION OF EARLY ONSET PARKINSON DISEASE GENES IN PATIENTS FROM SOUTHERN ITALY (Abstract/Poster in convegno) (Prodotto della ricerca)
- MTDNA HAPLOGROUP K IS PROTECTIVE AGAINST PD IN ITALIAN POPULATION (Abstract/Poster in convegno) (Prodotto della ricerca)
- Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism (Abstract/Poster in convegno) (Prodotto della ricerca)
- ANALISI CLINICO-GENETICA IN UNA FAMIGLIA ITALIANA CON ATASSIA SPINOCEREBELLARE AUTOSOMICO-DOMINANTE (Abstract/Poster in convegno) (Prodotto della ricerca)
- A Novel Mutation in the X-Linked Cyclin-Dependent Kinaselike 5 (CDKL5) Gene Associated with a Severe Rett Phenotype (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- E163L homozygous DJ-1 mutation in a family from southern italy with amyotrophic lateral sclerosis-parkinsonism-dementia complex (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Ataxia with oculomotor apraxia in a family from southern italy : a clinical and genetic study (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Mutations in the NHLRC1 gene are common in patients with Laforas progressive mioclonus epilepsy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Declino cognitivo nella Sclerosi Multipla:Studi di associazione. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Studio di associazione tra un polimorfismo funzionale del promotore del gene della prodinorfina e l'epilessia del lobo temporale. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Diagnosis of haploid and triploid based on measurement of gene copy number in CMT and HNPP (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Phenotypic variation of the Ser78Leu P0 mutation in five Sicilian Families (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosis Type 1 (NF1) gene in Southern Italian NF1 Patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Association between Synapsin III gene promoter polymorphisms and multiple sclerosis (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- c.1392+2T>C mutation in MFN2 gene affects splicing in Charcot-Marie-Tooth (CMT) 2A family (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Increased Risk for Alzheimer disease with the interaction of MPO and A2M Polymorphisms (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Dopaminergic modulation of cognitive interference after pharmacological washout in parkinson's disease (Abstract in rivista) (Prodotto della ricerca)
- Abnormal prefrontal gray matter in parkinsons disease patients with levodopa-induced dyskinesia: a combined voxel-based morphometry and cortical thickness study (Comunicazione a convegno) (Prodotto della ricerca)
- LRP1- LRPAP1 polymorphisms and risk of sporadic Alzheimers disease. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Mutational analysis of the mitochondrial tRNAleu gene In Italian patients with stroke-like episodes of undetermined origin. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- CASP-9: a susceptibility locus for multiple sclerosis in Italy. (Abstract/Poster in rivista) (Prodotto della ricerca)
- Serotonin receptor 2a gene variant influences age at onset but not cognitive performance in patients with temporal lobe epilepsy. (Comunicazione a convegno) (Prodotto della ricerca)
- No role of BDNF genetic variation on cognitive functions in patients with temporal lobe epilepsy. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Italian patients with hereditary spastic paraparesis. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Clinical and genetic study in an Italian family with neurofibromatosis type 1. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Exome sequencing of an Italian patient with dHMN. (Abstract/Comunicazione in atti di convegno) (Prodotto della ricerca)
- Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A comprehensive mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinsons disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- DENTATO-RUBRAL PALLIDOLUYSIAN ATROPHY: CLINICAL AND GENETIC ANALYSIS OF A SICILIAN PEDIGREE (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The frequency of limb girdle muscular dystrophy 1c in southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Gly269Ser mutation in compound heterozygosity with Leu127Arg is associated with adult onset of Tay-Sachs: a case report from south Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- ADULT ONSET TAY-SACHS ASSOCIATED WITH -HEXOSAMINIDASE A DEFICIENCY: A CASE REPORT FROM SOUTH ITALY (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- CAV3 T78M MUTATION IN HETEROZYGOSIS IS NOT ASSOCIATED WITH LGMD1C IN SOUTHERN ITALY (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Molecular characterization of the Presenilin-2 gene in Italian patients with familial Alzheimer Disease. (Comunicazione a convegno) (Prodotto della ricerca)
- Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Vitamins prevent the neurological symptoms in their deficiency disorders (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- The impact of first world war on post-traumatic psychiatric symptoms in soldiers. A retrospective study analysis of 498 soldiers admitted in the psychiatric hospital of Girifalco (Catanzaro) (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
- \"Schwann cells\", a historical landmark in neurology (Abstract/Poster in convegno) (Prodotto della ricerca)
- A CNN Based Algorithm for the Automated Segmentation of Multiple Sclerosis Lesions (Curatela) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1501)
- Evolving Cellular Neural Networks for the Automated Segmentation of Multiple Sclerosis Lesions (Contributo in volume (capitolo o saggio)) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1201)
- Brain atrophy and lesion load in a large population of patients with multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Brain atrophy evolution and lesion load accrual in multiple sclerosis: a 2-year follow-up study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Serotonin transporter gene (5-Htt): association analysis with temporal lobe epilepsy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- LRRK2 exons 31, 34, 35, 38 and 48 mutation analysis in a cohort of PD patients with a dominant pattern of inheritance from South Italy. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Lack of association between G-protein coupled receptor kinase 5 gene and Parkinson's disease (Articolo in rivista) (Prodotto della ricerca)
- Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cerebellar-parietal dysfunctions in multiple sclerosis patients with cerebellar signs. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Topiramate and temporal lobe epilepsy: an open-label study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Migraine attack triggering a generalised seizure: is this a case of migralepsy or ictal epileptic headache? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Computer-assisted cognitive rehabilitation of attention deficits for multiple sclerosis: a randomized trial with fMRI correlates (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association study of NACP-REP1 polymorphism and Parkinson's disease (Abstract in rivista) (Prodotto della ricerca)
- Advanced MRI Morphologic Study Shows No Atrophy in Healthy Individuals with Hippocampal Hyperintensity (Articolo in rivista) (Prodotto della ricerca)
- Lebers hereditary optic neuropathy associated with multiple sclerosis like picture in a man. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Linkage and mutational study in two families with familial hemiplegic migraine. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. (Articolo in rivista) (Prodotto della ricerca)
- Botulinum toxin is effective in myoclonus secondary to peripheral nerve injury. (Articolo in rivista) (Prodotto della ricerca)
- Septo-optic dysplasia plus bilateral perisylvian polymicrogyria: a case report. (Articolo in rivista) (Prodotto della ricerca)
- MR imaging and cognitive correlates of relapsing-remitting multiple sclerosis patients with cerebellar symptoms. (Articolo in rivista) (Prodotto della ricerca)
- Diffusivity of Cerebellar Hemispheres Enables Discrimination of Cerebellar or Parkinsonian Multiple System Atrophy from Progressive Supranuclear Palsy-Richardson Syndrome and Parkinson Disease. (Articolo in rivista) (Prodotto della ricerca)
- Dopamine-transporter levels drive striatal responses to apomorphine in Parkinson's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Correlation between fatigue and brain atrophy and lesion load in multiple sclerosis patients independent of disability. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dopaminergic modulation of cognitive interference in Parkinsons disease patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: NOTCH3. (Articolo in rivista) (Prodotto della ricerca)
- A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Prefrontal thickening in PD with levodopa-induced dyskinesias: New evidence from cortical thickness measurement (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Blink reflex recovery cycle in patients with essential tremor associated with resting tremor. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cardiac denervation precedes nigrostriatal damage in idiopathic rapid eye movement sleep behavior disorder. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- brain iron deposition in essential tremor: A quantitative 3-tesla magnetic resonance imaging study (Articolo in rivista) (Prodotto della ricerca)
- Relationship between genetic variant in pre-microRNA-146a and genetic predisposition to temporal lobe epilepsy: a case-control study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The BDNF Val66Met Polymorphism Has Opposite Effects on Memory Circuits of Multiple Sclerosis Patients and Controls (Articolo in rivista) (Prodotto della ricerca)
- Age at onset influences neurodegenerative processes underlying PD with levodopa-induced dyskinesias (Articolo in rivista) (Prodotto della ricerca)
- Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene. (Articolo in rivista) (Prodotto della ricerca)
- Dysfunctions within limbic-motor networks in amyotrophic lateral sclerosis (Articolo in rivista) (Prodotto della ricerca)
- CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: NOTCH3 (Articolo in rivista) (Prodotto della ricerca)
- \"Schwann cells\", a historical landmark in neurology (Comunicazione a convegno) (Prodotto della ricerca)
- 5-HTTLPR, anxiety, and gender interaction moderates right amygdala volume in healthy subjects (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Angiogenin gene and Amyotrophic Lateral Sclerosis in Southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Contribution of TARDBP mutations to Amyotrophic Lateral Sclerosis. (Abstract in rivista) (Prodotto della ricerca)
- Application of different classification techniques on brain morphological data (Contributo in atti di convegno) (Prodotto della ricerca)
- Magnetic Resonance Support Vector Machine Discriminates Between Parkinson Disease and Progressive Supranuclear Palsy (Articolo in rivista) (Prodotto della ricerca)
- The midbrain to pons ratio: A simple and specific MRI sign of progressive supranuclear palsy. (Articolo in rivista) (Prodotto della ricerca)
- Anti-N-methyl-D-aspartate-glutamic-receptor encephalitis presenting as paroxysmal exercise-induced foot weakness. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. (Articolo in rivista) (Prodotto della ricerca)
- Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. (Articolo in rivista) (Prodotto della ricerca)
- Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. (Articolo in rivista) (Prodotto della ricerca)
- Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. (Articolo in rivista) (Prodotto della ricerca)
- Creutzfeldt-Jakob disease and other dementia may be discriminated by Thymosin beta 4 levels in cerebrospinal fluid using MALDI-TOF MS. (Abstract/Poster in convegno) (Prodotto della ricerca)
- Hyperekplexia in a patient with a brainstem vascular anomaly. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Which is the goal of cognitive rehabilitation in multiple sclerosis: The improvement of cognitive performance or the perception of cognitive deficits? (Articolo in rivista) (Prodotto della ricerca)
- Could Mitochondrial Haplogroups Play A Role In Sporadic Amyotrophic Lateral Sclerosis? (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Functional Cortical Changes In Amyotrophic Lateral Sclerosis: An FMRI Study In The Early Stage Of The Disease (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Machine Learning on Brain MRI Data for Differential Diagnosis of Parkinson's Disease and Progressive Supranuclear Palsy (Articolo in rivista) (Prodotto della ricerca)
- May stimulation of the pre-SMA become a new therapeutic target for PD patients with levodopa-Induced dyskinesias? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Neurofunctional correlates of attention rehabilitation in Parkinson's disease: an explorative study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The role of the inferior frontal cortex in hyperkinetic movement disorders (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Vitamins prevent the neurological symptoms in the deficiency diseases (Abstract/Comunicazione in rivista) (Prodotto della ricerca)
- Detection of hippocampal atrophy in patients with temporal lobe epilepsy: A 3-Tesla MRI shape (Articolo in rivista) (Prodotto della ricerca)
- The \"minor\" Alois Alzheimer before the discovery of the eponymous disorder (Comunicazione a convegno) (Prodotto della ricerca)
- Clinical course of idiopathic intracranial hypertension with transverse sinus stenosis (Articolo in rivista) (Prodotto della ricerca)
- Spastin Gene Mutations In Italian Patients With Pure And Complicated Forms Of Spastic Paraplegia (Abstract in rivista) (Prodotto della ricerca)
- Subcortical Motor Plasticity In Patients With Sporadic Amyotrophic Lateral Sclerosis (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
- Hippocampal BOLD response during category learning predicts subsequent performance on transfer generalization. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Blink re fl ex recovery cycle distinguishes essential tremor with resting tremor from de novo Parkinson ' s disease: An exploratory study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel CAPN3 gene mutation in a LGMD patient from Southern Italy (Abstract/Poster in rivista) (Prodotto della ricerca)
- A novel missense mutation of CAPN3 gene in a Italian patient with Limb Girdle Muscular Dystrophy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Molecular characterization of the APP gene in Italian patients with familial Alzheimer disease. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Validation of the Italian version of the Movement Disorder Society--Unified Parkinson's Disease Rating Scale. (Articolo in rivista) (Prodotto della ricerca)
- Bilateral transverse sinus stenosis in patients with tinnitus. (Articolo in rivista) (Prodotto della ricerca)
- Tractography in Amyotrophic Lateral Sclerosis using a novel probabilistic tool: a study with tract-based reconstruction compared to voxel-based approach (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- May Hyperdirect pathway be a plausible neural substrate for understanding the rTMS-related effects on PD patients with levodopa-induced dyskinesias? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Implementation of the 'Sapere Migliora' information aid for newly diagnosed people with multiple sclerosis in routine clinical practice: a late-phase controlled trial. (Articolo in rivista) (Prodotto della ricerca)
- Fully automated segmentation of the pons and midbrain using human T1 MR brain images (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Neuroanatomical correlates of dystonic tremor: A cross-sectional study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Diffusion tensor MRI changes in gray structures of the frontal-subcortical circuits in amyotrophic lateral sclerosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Effect of aging on magnetic resonance measures differentiating progressive supranuclear palsy from Parkinson's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Maladaptive plasticity in levodopa-induced dyskinesias and tardive dyskinesias: old and new insights on the effects of dopamine receptor pharmacology (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The neuroanatomical correlates of anxiety in a healthy population: differences between the State-Trait Anxiety 1 Inventory and the Hamilton Anxiety Rating Scale (Articolo in rivista) (Prodotto della ricerca)
- Magnetic resonance support vector machine discriminates essential tremor with rest tremor from tremor-dominant Parkinson disease. (Articolo in rivista) (Prodotto della ricerca)
- DJ-1 is a Parkinson's disease susceptibility gene in southern Italy (Articolo in rivista) (Prodotto della ricerca)
- Amyloid beta precursor protein mutation (D678N) in a patient with early-onset familial Alzheimer's disease: clinical characteristics and genetic identification (Abstract/Poster in rivista) (Prodotto della ricerca)
- Reduced thalamic volume in Parkinson disease with REM sleep behavior disorder: Volumetric study (Articolo in rivista) (Prodotto della ricerca)
- Spatial learning induced changes in expression of the ryanodine type II receptor in the rat hippocampus (Articolo in rivista) (Prodotto della ricerca)
- Coautore
- Ha pubblicazioni con
- Responsabile
- Ha afferente
- Partecipazione di
- Gestore
- Rapporto con persona