Showing results (81-90 of 87) with videos related to
Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 87 results.
Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i>-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, et al.Plos One|February 6, 2016
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational StudyCeline Dogan, Marie De Antonio, Dalil Hamroun, et al.Medicina Clinica|January 28, 2019
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's diseaseGerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, et al.Brain : a Journal of Neurology|November 21, 2013
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2A Reghan Foley, Manoj P Menezes, Amelie Pandraud, et al.Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.Pageof 9