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Digital Health|November 29, 2023
Mental health challenges and digital platform opportunities in patients and families affected by pediatric neuromuscular diseases - experiences from SwitzerlandOliver Gruebner, Afua van Haasteren, Anna Hug, et al.
The Lancet. Neurology|August 31, 2010
Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trialJanbernd Kirschner, Joachim Schessl, Ulrike Schara, et al.
Neurology|May 20, 2020
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertensionSteffen Syrbe, Georg M Stettner, Julien Bally, et al.
Neurology. Genetics|February 12, 2020
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
Pediatric Neurology|February 15, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne SyndromeSeth A Stafki, Johnnie Turner, Hannah R Littel, et al.
The Lancet Regional Health. Europe|October 22, 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyClaudia Weiß, Lena-Luise Becker, Johannes Friese, et al.
Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.
Molecular Genetics and Metabolism|July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort studySebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Journal of Neuromuscular Diseases|November 24, 2025
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidenceClaudia Weiß, Katharina Vill, Matthias Baumann, et al.
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