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Neurology. Genetics|December 22, 2017
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiencyRabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, et al.Journal of Neuropathology and Experimental Neurology|August 23, 2013
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disordersEdoardo Malfatti, Montse Olivé, Ana Lía Taratuto, et al.Acta Neuropathologica Communications|April 15, 2014
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotypeEdoardo Malfatti, Vilma-Lotta Lehtokari, Johann Böhm, et al.Journal of Medical Genetics|April 24, 2019
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophyKarine Nguyen, Natacha Broucqsault, Charlene Chaix, et al.Human Mutation|October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patientsMartin Krahn, Christophe Béroud, Véronique Labelle, et al.American Journal of Human Genetics|September 13, 2003
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effectLinda L Bachinski, Bjarne Udd, Giovanni Meola, et al.Brain : a Journal of Neurology|April 19, 2016
High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibodyYves Allenbach, Jeremy Keraen, Anne-Marie Bouvier, et al.Brain : a Journal of Neurology|September 28, 2014
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutationsJohann Böhm, Valérie Biancalana, Edoardo Malfatti, et al.Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.Neuromuscular Disorders : NMD|July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entityKristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.Pageof 21