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Children (Basel, Switzerland)|August 27, 2021
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice GuidelinesRudolf Korinthenberg, Regina Trollmann, Barbara Plecko, et al.Human Mutation|May 28, 2011
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type IAnnelies Rotthier, Anke Penno, Bernd Rautenstrauss, et al.Molecular Genetics and Metabolism|October 22, 2023
Long-term complications in classic galactosemia are not progressiveNicole H Smith, Emma T Hendrickson, Olivia S Garrett, et al.Neuromuscular Disorders : NMD|March 26, 2022
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in SwitzerlandAnne Tscherter, Christina T Rüsch, Dominique Baumann, et al.Journal of Neuromuscular Diseases|August 30, 2024
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular DystrophyCornelia Enzmann, Leonie Steiner, Katarzyna Pospieszny, et al.The Lancet. Neurology|February 21, 2026
Safety and efficacy of fordadistrogene movaparvovec in ambulatory participants with Duchenne muscular dystrophy (CIFFREO): a phase 3, double-blind, randomised, placebo-controlled studyFrancesco Muntoni, Andres Nascimento, Jinhong Shin, et al.Journal of Clinical Medicine|May 25, 2024
Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy RegistryLeonie Steiner, Anne Tscherter, Bettina Henzi, et al.Neuromuscular Disorders : NMD|December 5, 2013
Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot studyJ Kirschner, D Schorling, D Hauschke, et al.Neuromuscular Disorders : NMD|December 14, 2007
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosisKathrin Huehne, Christiane Zweier, Klaus Raab, et al.Frontiers in Medicine|January 26, 2026
Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causalityAnna Uhrova Meszarosova, Elea Galiart, Petra Lassuthova, et al.Pageof 7