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Neuromuscular Disorders : NMD|July 10, 2021
Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT diseaseRocio-Nur Villar-Quiles, Van Thuy Le, Sarah Leonard-Louis, et al.Journal of the Peripheral Nervous System : JPNS|May 27, 2025
A Case Series of Unilateral Peripheral NeuropathyCaroline Kramarz, Marion Masingue, Françoise Bouhour, et al.The Journal of Clinical Endocrinology and Metabolism|June 20, 2013
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiencyNicolai Preisler, Pascal Laforêt, Andoni Echaniz-Laguna, et al.Neuromuscular Disorders : NMD|November 24, 2016
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutationJean-Baptiste Noury, Johann Böhm, Georges Arielle Peche, et al.Journal of Neuromuscular Diseases|June 10, 2017
Risk for Complications after Pacemaker or Cardioverter Defibrillator Implantations in Patients with Myotonic Dystrophy Type 1Maximilien Sochala, Karim Wahbi, Emmanuel Sorbets, et al.Neurology|December 18, 2012
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutationEdoardo Malfatti, Pascal Laforêt, Claude Jardel, et al.Muscle & Nerve|February 11, 2017
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patientsConstantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, et al.Neurology|May 3, 2014
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathyAndoni Echaniz-Laguna, Odile Dubourg, Pierre Carlier, et al.International Journal of Molecular Sciences|April 27, 2024
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium BufferingMaria Ceprian, Raul Juntas-Morales, Graham Campbell, et al.Brain : a Journal of Neurology|October 14, 2011
Long-term observational study of sporadic inclusion body myositisOlivier Benveniste, Marguerite Guiguet, Jane Freebody, et al.Pageof 25