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Neuromuscular Disorders : NMD|January 21, 2020
Mutations in the J domain of DNAJB6 cause dominant distal myopathyJohanna Palmio, Per Harald Jonson, Michio Inoue, et al.
European Journal of Neurology|May 11, 2023
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohortEdouard Berling, Camille Verebi, Nadia Venturelli, et al.
European Journal of Human Genetics : EJHG|June 19, 2023
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencingJulian Theuriet, Gorka Fernandez-Eulate, Philippe Latour, et al.
Journal of Inherited Metabolic Disease|January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in AdultsDaniele Mandia, Metodi D Metodiev, Jean-François Benoist, 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.
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, 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.
Neurology. Genetics|July 20, 2023
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular AtrophyGorka Fernández-Eulate, Julian Theuriet, Christopher J Record, et al.
European Journal of Neurology|March 14, 2021
Deep phenotyping of an international series of patients with late-onset dysferlinopathyGorka Fernández-Eulate, Giorgia Querin, Ursula Moore, et al.
European Journal of Neurology|June 1, 2021
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathyMarie Subréville, Nathalie Bonello-Palot, Douniazed Yahiaoui, et al.
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