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Journal of Neuromuscular Diseases|September 12, 2025
State of the art: Pregnancy in spinal muscular atrophy in the treatment eraMaggie C Walter, Bernert Günther, Blaschek Astrid, et al.Annals of Clinical and Translational Neurology|April 29, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9Lindsay B Murphy, Olivia Schreiber-Katz, Karen Rafferty, et al.Neurology|May 13, 2016
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weaknessZoltan Lukacs, Paulina Nieves Cobos, Stephan Wenninger, et al.Neurology|October 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular DystrophyVolker Straub, Amanda R Clause, Sandra Donkervoort, et al.Journal of Neurology|May 6, 2011
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 genePeter Reilich, Rita Horvath, Sabine Krause, et al.Human Molecular Genetics|June 21, 2013
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscleNikolai Klymiuk, Andreas Blutke, Alexander Graf, et al.Orphanet Journal of Rare Diseases|October 17, 2021
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1AShahram Attarian, Peter Young, Thomas H Brannagan, et al.Neuromuscular Disorders : NMD|June 6, 2022
Pig models for Duchenne muscular dystrophy - from disease mechanisms to validation of new diagnostic and therapeutic conceptsMichael Stirm, Lina Marie Fonteyne, Bachuki Shashikadze, et al.Brain : a Journal of Neurology|December 28, 2010
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie Hicks, Anna Sarkozy, Nuria Muelas, et al.Neuromuscular Disorders : NMD|September 18, 2012
Muscle MRI findings in limb girdle muscular dystrophy type 2LAnna Sarkozy, Marcus Deschauer, Robert-Yves Carlier, et al.Pageof 16