http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleInterno/MATRICOLA19900
PATRIZIA SABATELLI
- Type
- Label
- PATRIZIA SABATELLI (literal)
- PATRIZIA SABATELLI (literal)
- Subject
- Partecipa a commessa
- Persona in rapporto
- Autore CNR di
- 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). (Articolo in rivista) (Prodotto della ricerca)
- Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology (Articolo in rivista) (Prodotto della ricerca)
- At the nucleus of the problem: nuclear proteins and disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. (Articolo in rivista) (Prodotto della ricerca)
- Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Emerin increase in regenerating muscle fibers, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. (Articolo in rivista) (Prodotto della ricerca)
- Confocal imaging and electron microscopy analysis to identify secondary collagen VI defects. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Laminopathies: a chromatin affair, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Involvement of cytoskeletal and extracellular matrix structural components in LGND21 muscle: report of one case, (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- EMILIN-1 deficiency induces elastogenesis and vascular cell defects, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Altered lamin A/C phosphorylation in Emery-Dreifuss muscle, (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Emilin1 deficiency causes structural and functional defects of lymphatic vasculature (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutationsi in Ullrich congenital muscular dystrophy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Collagen VI myopathies: from the animal model to the clinical trial (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Effects on Collagen VI mrna Stability and Microfibrillar Assembly of Three COL6A2 Mutations in Two Families with Ullrich Congenital Muscular Dystrophy (Articolo in rivista) (Prodotto della ricerca)
- Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. (Articolo in rivista) (Prodotto della ricerca)
- Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies. (Articolo in rivista) (Prodotto della ricerca)
- Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies (Articolo in rivista) (Prodotto della ricerca)
- Defective collagen VI alpha 6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies (Articolo in rivista) (Prodotto della ricerca)
- Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differential and restricted expression of novel collagen VI chains in mouse. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Preclinical PK and PD Studies on 2'-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Exon skipping-mediated dystrophin reading frame restoration for small mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Expression of the Collagen VI alpha5 and alpha6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies (Articolo in rivista) (Prodotto della ricerca)
- Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Macrophages: A minimally invasive tool for monitoring collagen VI myopathies. (Articolo in rivista) (Prodotto della ricerca)
- Autosomal recessive Bethlem myopathy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Properties of Ca2+ Transport in Mitochondria of Drosophila melanogaster. (Articolo in rivista) (Prodotto della ricerca)
- Cyclosporine a in ullrich congenital muscular dystrophy: long-term results. (Articolo in rivista) (Prodotto della ricerca)
- Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by Collagen VI myopathies. (Articolo in rivista) (Prodotto della ricerca)
- The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A comprehensive molecular approach in collagen type VI related myopathies based on genomic sequencing, transcriptional analysis and array CGH (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. (Articolo in rivista) (Prodotto della ricerca)
- PCNA staining pattern is altered in Emery-Dreifuss fibroblasts. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Autosomal recessive myosclerosis myopathy is a collagen VI disorder. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Collagen type VI deficiency disrupts basal lamina-extracellular matrix binding in Ullrich congenital muscular dysystrophy and COL6A1 null mutant skeletal muscle (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. (Articolo in rivista) (Prodotto della ricerca)
- Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Melanocytes-A novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel collagen VI alpha chains distribution in murine skeletal muscle: possible implications for neuromuscular disorders (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- EMILIN1/alpha9beta1 Integrin Interaction Is Crucial in Lymphatic Valve Formation and Maintenance. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association of collagen VI alpha1 chain to monocytes-derived macrophages podosomes. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants. (Articolo in rivista) (Prodotto della ricerca)
- Expression of collagen VI ?5 and ?6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. (Articolo in rivista) (Prodotto della ricerca)
- Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Heterochromatin dynamics in hutchinson-gilford progeria sindrome fibroblasts, (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Lamin A-dependent heterochromatin dynamics in control and progeria syndrome fibroblasts, (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Chromatin remodelling is involved in the pathogenesis of the mandibulocral dyspasia (MADA), (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Detection of mitochondrial defects in collagen VI deficient muscle cultures from UCMD patients and Col6a1 knockout mice: an ultrastructural study, (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutationsi in Ullrich congenital muscular dystrophy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular analysis of COL6 genes in patients with Betlem myopaty and Ullrich congenital muscular dystrofy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Autosomal recessive myosclerosis myopaty is a collagen type VI disorder. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- In vivo biodistribution of non-viral systems for oligoribonucleotides delivery. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Nuclear envelope proteins and chromatin arrangem ent: a pathogenic mechanism for laminopathies, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2, (Articolo in rivista) (Prodotto della ricerca)
- Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy, (Articolo in rivista) (Prodotto della ricerca)
- Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two Myosclerosis myopathy patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Collagen VI Status and Clinical Severity in Ullrich Congenital Muscular Dystrophy: Phenotype Analysis of 11 Families Linked to the COL6 Loci, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Coautore
- Nome
- Cognome
- Afferisce a
- Ha pubblicazioni con
- Http://www.cnr.it/ontology/persone.owl#argomentoDiRicercaSimile
Incoming links:
- Ha afferente
- Http://www.cnr.it/ontology/persone.owl#argomentoDiRicercaSimile
- Coautore
- Ha pubblicazioni con
- Partecipazione di
- Autore CNR
- Collagen type VI deficiency disrupts basal lamina-extracellular matrix binding in Ullrich congenital muscular dysystrophy and COL6A1 null mutant skeletal muscle (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutationsi in Ullrich congenital muscular dystrophy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Detection of mitochondrial defects in collagen VI deficient muscle cultures from UCMD patients and Col6a1 knockout mice: an ultrastructural study, (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Lamin A-dependent heterochromatin dynamics in control and progeria syndrome fibroblasts, (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Chromatin remodelling is involved in the pathogenesis of the mandibulocral dyspasia (MADA), (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Heterochromatin dynamics in hutchinson-gilford progeria sindrome fibroblasts, (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology (Articolo in rivista) (Prodotto della ricerca)
- 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). (Articolo in rivista) (Prodotto della ricerca)
- Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Nuclear envelope proteins and chromatin arrangem ent: a pathogenic mechanism for laminopathies, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy, (Articolo in rivista) (Prodotto della ricerca)
- Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2, (Articolo in rivista) (Prodotto della ricerca)
- Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants. (Articolo in rivista) (Prodotto della ricerca)
- Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- At the nucleus of the problem: nuclear proteins and disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. (Articolo in rivista) (Prodotto della ricerca)
- Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Emerin increase in regenerating muscle fibers, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Collagen VI Status and Clinical Severity in Ullrich Congenital Muscular Dystrophy: Phenotype Analysis of 11 Families Linked to the COL6 Loci, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Emilin1 deficiency causes structural and functional defects of lymphatic vasculature (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Collagen VI myopathies: from the animal model to the clinical trial (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Macrophages: A minimally invasive tool for monitoring collagen VI myopathies. (Articolo in rivista) (Prodotto della ricerca)
- Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by Collagen VI myopathies. (Articolo in rivista) (Prodotto della ricerca)
- Properties of Ca2+ Transport in Mitochondria of Drosophila melanogaster. (Articolo in rivista) (Prodotto della ricerca)
- Cyclosporine a in ullrich congenital muscular dystrophy: long-term results. (Articolo in rivista) (Prodotto della ricerca)
- Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. (Articolo in rivista) (Prodotto della ricerca)
- Effects on Collagen VI mrna Stability and Microfibrillar Assembly of Three COL6A2 Mutations in Two Families with Ullrich Congenital Muscular Dystrophy (Articolo in rivista) (Prodotto della ricerca)
- Laminopathies: a chromatin affair, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- EMILIN-1 deficiency induces elastogenesis and vascular cell defects, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. (Articolo in rivista) (Prodotto della ricerca)
- Autosomal recessive myosclerosis myopathy is a collagen VI disorder. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Exon skipping-mediated dystrophin reading frame restoration for small mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Autosomal recessive Bethlem myopathy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Differential and restricted expression of novel collagen VI chains in mouse. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Preclinical PK and PD Studies on 2'-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Confocal imaging and electron microscopy analysis to identify secondary collagen VI defects. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Involvement of cytoskeletal and extracellular matrix structural components in LGND21 muscle: report of one case, (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutationsi in Ullrich congenital muscular dystrophy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Altered lamin A/C phosphorylation in Emery-Dreifuss muscle, (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- PCNA staining pattern is altered in Emery-Dreifuss fibroblasts. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- A comprehensive molecular approach in collagen type VI related myopathies based on genomic sequencing, transcriptional analysis and array CGH (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Novel collagen VI alpha chains distribution in murine skeletal muscle: possible implications for neuromuscular disorders (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Association of collagen VI alpha1 chain to monocytes-derived macrophages podosomes. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Autosomal recessive myosclerosis myopaty is a collagen type VI disorder. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- In vivo biodistribution of non-viral systems for oligoribonucleotides delivery. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Molecular analysis of COL6 genes in patients with Betlem myopaty and Ullrich congenital muscular dystrofy. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Immunofluorescence and morphological alterations of capillary wall in skeletal muscle of two Myosclerosis myopathy patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Expression of the Collagen VI alpha5 and alpha6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies (Articolo in rivista) (Prodotto della ricerca)
- Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. (Articolo in rivista) (Prodotto della ricerca)
- Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. (Articolo in rivista) (Prodotto della ricerca)
- Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Expression of collagen VI ?5 and ?6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. (Articolo in rivista) (Prodotto della ricerca)
- Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- EMILIN1/alpha9beta1 Integrin Interaction Is Crucial in Lymphatic Valve Formation and Maintenance. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Melanocytes-A novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies (Articolo in rivista) (Prodotto della ricerca)
- Defective collagen VI alpha 6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies (Articolo in rivista) (Prodotto della ricerca)
- Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies. (Articolo in rivista) (Prodotto della ricerca)
- NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Rapporto con persona
- Http://www.w3.org/2004/02/skos/core#isSubjectOf
