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Neuromuscular Disorders : NMD|January 2, 2017
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvementAna Fernández-Marmiesse, M Carmen Carrascosa-Romero, Blanca Alfaro Ponce, et al.
Neuromuscular Disorders : NMD|April 2, 2014
Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA geneUlrike Bonati, Nina Bechtel, Karl Heinimann, et al.
Neuromuscular Disorders : NMD|April 1, 2014
Plasma microRNAs as biomarkers for myotonic dystrophy type 1Alessandra Perfetti, Simona Greco, Enrico Bugiardini, et al.
Neuromuscular Disorders : NMD|May 13, 2014
Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophyJeremy Rouillon, Aleksandar Zocevic, Thibaut Leger, et al.
Neuromuscular Disorders : NMD|March 25, 2017
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin geneEbtesam Abdalla, Gianina Ravenscroft, Louay Zayed, et al.
Neuromuscular Disorders : NMD|April 24, 2012
Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2Z Lukáš, M Falk, J Feit, et al.
Neuromuscular Disorders : NMD|April 24, 2012
New phenotype and pathology features in MYH7-related distal myopathyGiorgio Tasca, Enzo Ricci, Sini Penttilä, et al.
Neuromuscular Disorders : NMD|May 2, 2012
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech familyDana Safka Brožková, Soňa Nevšímalová, Radim Mazanec, et al.
Neuromuscular Disorders : NMD|May 2, 2012
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutationsAnne Vital, Philippe Latour, Guilhem Sole, et al.
Neuromuscular Disorders : NMD|September 28, 2014
Extraocular muscle function in adult-onset Pompe disease tested by saccadic eye movementsE Anagnostou, E Kemanetzoglou, G Papadimas, et al.
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