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Neuromuscular Disorders : NMD|April 16, 2025
Therapeutic sphingosine-1-phosphate receptor modulation by repurposing fingolimod (FTY720) leads to mitigated neuropathy and improved clinical outcome in a mouse model for Charcot-Marie-Tooth 1X diseaseXidi Yuan, Dennis Klein, Anna-Maria Maier, et al.
Neuromuscular Disorders : NMD|April 2, 2025
281st ENMC international workshop: 2nd ENMC workshop on exercise training in muscle diseases; towards consensus-based recommendations on exercise prescription and outcome measures. Hoofddorp, The Netherlands, 4-6 October 2024Eric Lukas Voorn, Alejandro Lucia, John Vissing, et al.
Neuromuscular Disorders : NMD|May 2, 2025
Emerging atypical clinicopathological manifestations of immune-mediated necrotizing myopathy (IMNM)Michael P Skolka, Iago Pinal-Fernandez, Andrew L Mammen, et al.
Neuromuscular Disorders : NMD|April 19, 2025
Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy: a case reportKathleen Hoffbauer, Jonathan Baets, Willem De Ridder
Neuromuscular Disorders : NMD|November 14, 2025
Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping reviewIsabelle Gaudet, Simon-Pierre Gagnon, Stéphanie Hamel, et al.
Neuromuscular Disorders : NMD|August 14, 2025
Rhabdomyolysis associated with OBSCN mutations: case report and mechanistic reviewQinyao Liu, Wenjia Zhu, Xinmei Wen, et al.
Neuromuscular Disorders : NMD|July 29, 2025
The novel missense variant D40V causes a young adult presentation of ANXA11-related myopathyAldrin Pedroza Martins, Alexandre Hilario B Mattos, Camila Castelo Branco Pupe, et al.
Neuromuscular Disorders : NMD|July 24, 2025
TBK1-associated motor neuron disease with concomitant vacuolar myopathy: a case resembling a multisystem proteinopathyYasmine Sluyts, Kristof Van Schil, Tine Deconinck, et al.
Neuromuscular Disorders : NMD|July 23, 2014
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeatChristopher Grunseich, Ilona R Kats, Laura C Bott, et al.
Neuromuscular Disorders : NMD|July 23, 2014
Screening for late-onset Pompe disease in FinlandJohanna Palmio, Mari Auranen, Sari Kiuru-Enari, et al.
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