Neuromuscular disorders

Label

• Neuromuscular disorders (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. (Articolo in rivista) (Prodotto della ricerca)
• Tubular aggregates in skeletal muscle: Just a special type of protein aggregates? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Increased levels of expression of dystroglycan may protect the heart (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Evaluating the role of the dystroglycan alpha/beta interface in human muscular dystrophies (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients (Articolo in rivista) (Prodotto della ricerca)
• Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease (Articolo in rivista) (Prodotto della ricerca)
• 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies) (Articolo in rivista) (Prodotto della ricerca)
• Novel activation domain derived from Che-1 cofactor coupled with the artificial protein Jazz drives utrophin upregulation. (Articolo in rivista) (Prodotto della ricerca)
• 98th ENMC International Workshop on Congenital Muscular Dystrophy Workshop of the MYO CLUSTER project GENRE (Articolo in rivista) (Prodotto della ricerca)
• Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands (Articolo in rivista) (Prodotto della ricerca)
• 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. (Articolo in rivista) (Prodotto della ricerca)
• A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease (Articolo in rivista) (Prodotto della ricerca)
• Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• alpha-Dystroglycan, the usual suspect? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD (Articolo in rivista) (Prodotto della ricerca)
• Additive effects of POLGI and ANT1 mutations in a complex encephalomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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)
• 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)
• Natural history of CMT1A including QoL: a 2-year prospective study. (Articolo in rivista) (Prodotto della ricerca)
• alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy (Articolo in rivista) (Prodotto della ricerca)
• 85th ENMC international workshop on congenital muscular dystrophy 6th international CMD workshop 1st workshop of the Myo-Cluster project \"GENRE\" 27-28th October 2000, Naarden (Articolo in rivista) (Prodotto della ricerca)
• Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Autosomal dominant distal spinal muscular atrophy: an Italian family not linked to 12q24 and 7p14 (Articolo in rivista) (Prodotto della ricerca)
• CAV3 T78M mutation as polymorphic variant in South Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, The Netherlands (Articolo in rivista) (Prodotto della ricerca)
• Comparison of different techniques for detecting 17p12 duplication in CMT1A. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A personal monitoring architecture to detect muscular fatigue in elderly (Articolo in rivista) (Prodotto della ricerca)
• Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. (Articolo in rivista) (Prodotto della ricerca)
• Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic data. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Novel activation domain derived from Che-1 cofactor coupled with the artificial protein Jazz drives utrophin upregulation. (Articolo in rivista) (Prodotto della ricerca)
• Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers (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) (Prodotto della ricerca)
• Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. (Articolo in rivista) (Prodotto della ricerca)
• Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). (Articolo in rivista) (Prodotto della ricerca)
• Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: A novel form of CMD (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy. (Articolo in rivista) (Prodotto della ricerca)

Alternative label

• Neuromuscul. disord. (literal)

Language

• eng (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn

• 0960-8966 (literal)

Preferred label

• Neuromuscular disorders (literal)

Publisher

• Pergamon. Oxford: GBR (literal)

Incoming links:

Rivista

• 85th ENMC international workshop on congenital muscular dystrophy 6th international CMD workshop 1st workshop of the Myo-Cluster project \"GENRE\" 27-28th October 2000, Naarden (Articolo in rivista) (Prodotto della ricerca)
• Autosomal dominant distal spinal muscular atrophy: an Italian family not linked to 12q24 and 7p14 (Articolo in rivista) (Prodotto della ricerca)
• Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, The Netherlands (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)
• Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. (Articolo in rivista) (Prodotto della ricerca)
• Novel activation domain derived from Che-1 cofactor coupled with the artificial protein Jazz drives utrophin upregulation. (Articolo in rivista) (Prodotto della ricerca)
• Additive effects of POLGI and ANT1 mutations in a complex encephalomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• alpha-Dystroglycan, the usual suspect? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Evaluating the role of the dystroglycan alpha/beta interface in human muscular dystrophies (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. (Articolo in rivista) (Prodotto della ricerca)
• 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International (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)
• 82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies) (Articolo in rivista) (Prodotto della ricerca)
• 98th ENMC International Workshop on Congenital Muscular Dystrophy Workshop of the MYO CLUSTER project GENRE (Articolo in rivista) (Prodotto della ricerca)
• Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands (Articolo in rivista) (Prodotto della ricerca)
• Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). (Articolo in rivista) (Prodotto della ricerca)
• A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy (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)
• Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD (Articolo in rivista) (Prodotto della ricerca)
• Comparison of different techniques for detecting 17p12 duplication in CMT1A. (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) (Prodotto della ricerca)
• Natural history of CMT1A including QoL: a 2-year prospective study. (Articolo in rivista) (Prodotto della ricerca)
• Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic data. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Novel activation domain derived from Che-1 cofactor coupled with the artificial protein Jazz drives utrophin upregulation. (Articolo in rivista) (Prodotto della ricerca)
• Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. (Articolo in rivista) (Prodotto della ricerca)
• Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy. (Articolo in rivista) (Prodotto della ricerca)
• A personal monitoring architecture to detect muscular fatigue in elderly (Articolo in rivista) (Prodotto della ricerca)
• CAV3 T78M mutation as polymorphic variant in South Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy (Articolo in rivista) (Prodotto della ricerca)
• Increased levels of expression of dystroglycan may protect the heart (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease (Articolo in rivista) (Prodotto della ricerca)
• Tubular aggregates in skeletal muscle: Just a special type of protein aggregates? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients (Articolo in rivista) (Prodotto della ricerca)
• Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: A novel form of CMD (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers (Articolo in rivista) (Prodotto della ricerca)
• Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease (Articolo in rivista) (Prodotto della ricerca)