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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.Journal of Neuromuscular Diseases|July 12, 2024
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular AtrophyEduardo Arteaga-Bracho, Gautier Cosne, Christoph Kanzler, et al.Neuromuscular Disorders : NMD|November 16, 2019
MYO-MRI diagnostic protocols in genetic myopathiesJodi Warman Chardon, Jordi Díaz-Manera, Giorgio Tasca, et al.Journal of Neurology|September 27, 2019
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)Andrea Barp, Pascal Laforet, Luca Bello, et al.Brain : a Journal of Neurology|December 7, 2007
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patientsRudolf A Kley, Yorck Hellenbroich, Peter F M van der Ven, et al.Journal of Cachexia, Sarcopenia and Muscle|August 15, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2Zoe White, Laura Rufibach, Heather Gordish Dressman, et al.Brain Communications|April 3, 2023
Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutationsMaximilian Wiesenfarth, Kornelia Günther, Kathrin Müller, et al.Journal of Neurology|May 26, 2026
Identification of prognostic biomarkers in a large cohort of patients with LGMD R2Carla F Bolano-Diaz, Jose Verdu-Diaz, Dan Hao, et al.Pageof 17