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Neuromuscular Disorders : NMD|August 3, 2014
Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patientsManoj Mannil, Alessandra Solari, Andreas Leha, et al.Annals of Neurology|August 9, 2025
Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1-Linked Amyotrophic Lateral SclerosisChristina Steffke, Karthik Baskar, Franziska Bachhuber, et al.Brain : a Journal of Neurology|February 17, 2024
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like featuresPablo Iruzubieta, Alberto Damborenea, Mihaela Ioghen, et al.Muscle & Nerve|February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyUrsula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.Disease Models & Mechanisms|November 19, 2021
A scalable, clinically severe pig model for Duchenne muscular dystrophyMichael Stirm, Lina Marie Fonteyne, Bachuki Shashikadze, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 11, 2017
MRI in sarcoglycanopathies: a large international cohort studyGiorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, et al.Brain : a Journal of Neurology|March 13, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohortAlexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, et al.Journal of Neuromuscular Diseases|September 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling studyBenedikt Becker, Isabell Cordts, Jutta Becker, et al.Brain : a Journal of Neurology|June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in EuropeGorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.Brain : a Journal of Neurology|July 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.Pageof 17