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Neurology(R) Neuroimmunology & Neuroinflammation|December 28, 2018
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophyPayam Mohassel, Océane Landon-Cardinal, A Reghan Foley, et al.Journal of Neuropathology and Experimental Neurology|November 27, 2025
Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA)Angèle N Merlet, Emmanuelle Lacène, Isabelle Nelson, et al.European Journal of Neurology|April 23, 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndromeRocio Nur Villar-Quiles, Damien Sternberg, Grégoire Tredez, et al.Journal of Neuromuscular Diseases|November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair MechanismsIsabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.Journal of the Peripheral Nervous System : JPNS|April 23, 2026
Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related NeuropathiesNicholas Moro, Stanislas Francois, Christel Grondin, et al.Journal of Neuromuscular Diseases|April 24, 2026
A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in FranceGuillaume Montagu, François-Constant Boyer, Marcela Gargiulo, et al.Annals of Clinical and Translational Neurology|April 7, 2023
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathyBhaskar Roy, Allison Peck, Teresinha Evangelista, et al.Neuromuscular Disorders : NMD|August 14, 2024
Defining the landscape of TIA1 and SQSTM1 digenic myopathyPaula Panos-Basterra, Julian Theuriet, Aleksandra Nadaj-Pakleza, et al.JAMA Cardiology|July 2, 2025
Location of LMNA Variants and Clinical Outcomes in CardiomyopathyAshwin Bhaskaran, Rabah Ben Yaou, Adam S Helms, et al.JAMA Cardiology|September 24, 2025
Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1Nicolas Clementy, Fabien Labombarda, François Grolleau, et al.Pageof 25