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O.14 Biocompatible nanoparticles as slow-release delivery system of 2′OMePS AON administered both intraperitoneally and orally in the mdx mice: dystrophin rescue and nanoparticles biodistribution JOURNAL ARTICLE published October 2011 in Neuromuscular Disorders |
G.P.106 JOURNAL ARTICLE published October 2014 in Neuromuscular Disorders |
P.P.2 02 Aberrant DMPK expression in DM1 and DM2 patients JOURNAL ARTICLE published October 2006 in Neuromuscular Disorders |
Clinical orphan patient pool methodology estimates current patient pool in centronuclear myopathy JOURNAL ARTICLE published October 2017 in Neuromuscular Disorders |
WMS online application form JOURNAL ARTICLE published February 2011 in Neuromuscular Disorders |
P2.19 Desmin-related myopathies: Effects of a cyclic mechanical stress on the aggregation of desmin in transfected myoblasts JOURNAL ARTICLE published October 2010 in Neuromuscular Disorders |
P.399The international spinal muscular atrophy (SMA) registry: longitudinal collection and refinement of outcome measures for spinal muscular atrophy JOURNAL ARTICLE published October 2019 in Neuromuscular Disorders |
Thromboembolic risk in inflammatory neuromuscular disease patients on long-term IVIg JOURNAL ARTICLE published March 2017 in Neuromuscular Disorders |
Variability of clinical expression in familial amyloid polyneuropathy JOURNAL ARTICLE published February 1996 in Neuromuscular Disorders |
P66 iPS cells and human artificial chromosomes: novel therapeutic tools for muscle disorders JOURNAL ARTICLE published March 2014 in Neuromuscular Disorders |
P.367Comparative analysis of single stranded rAAV vectors expressing human SMN1 in correcting spinal muscular atrophy in mice JOURNAL ARTICLE published October 2019 in Neuromuscular Disorders |
G.P.13.10 High frequency of polymorphisms in the RYR1 gene in Brazilian patients with centronuclear myopathy JOURNAL ARTICLE published October 2008 in Neuromuscular Disorders |
G.P.23 Phenotypic variability and survey in a series of Bethlem myopathy JOURNAL ARTICLE published October 2012 in Neuromuscular Disorders |
Severe Walker–Warburg syndrome associated with new mutation in ISPD gene identified with whole exome sequencing JOURNAL ARTICLE published October 2016 in Neuromuscular Disorders |
P68 A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations JOURNAL ARTICLE published March 2012 in Neuromuscular Disorders |
Neuromuscular disorders: Gene location JOURNAL ARTICLE published December 1996 in Neuromuscular Disorders |
The impact of the national population carrier screening program on reducing birth rates of patients with spinal muscular atrophy JOURNAL ARTICLE published October 2017 in Neuromuscular Disorders |
P1.7 Early death following minor trauma in Duchenne muscular dystrophy JOURNAL ARTICLE published October 2011 in Neuromuscular Disorders |
P2.46 Myogenin expression is decreased in biopsied muscles of sporadic inclusion body myositis JOURNAL ARTICLE published October 2010 in Neuromuscular Disorders |
EM.P.2.13 Overexpression of LARGE strongly increases laminin binding of α-dystroglycan but does not exhibit toxic effects in mice JOURNAL ARTICLE published September 2009 in Neuromuscular Disorders |