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Orphanet Journal of Rare Diseases|June 5, 2019
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical careMarie De Antonio, Céline Dogan, Ferroudja Daidj, et al.Journal of Neuropathology and Experimental Neurology|April 2, 2008
Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophyGuillaume Bassez, Elisabeth Chapoy, Sylvie Bastuji-Garin, et al.Molecular Genetics and Metabolism|January 22, 2013
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic studyPascal Laforêt, Tanya Stojkovic, Guillaume Bassez, et al.Journal of Inherited Metabolic Disease|November 13, 2014
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven casesClaire-Cécile Michon, Marcela Gargiulo, Valérie Hahn-Barma, et al.The Journal of Cell Biology|January 7, 2009
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophyAlexandre Méjat, Valérie Decostre, Juan Li, et al.Journal of Clinical Pathology|April 13, 2017
The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise testJean-Yves Hogrel, Jorien B E Janssen, Isabelle Ledoux, et al.Neuromuscular Disorders : NMD|August 29, 2006
Sleep disorders in childhood-onset myotonic dystrophy type 1Maria-Antonia Quera Salva, Marc Blumen, Aurelia Jacquette, et al.International Journal of Molecular Sciences|November 25, 2023
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQSusie Barbeau, Fannie Semprez, Alexandre Dobbertin, et al.Journal of Neuromuscular Diseases|April 25, 2022
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two CasesHelena T M Boon, Bram Jacobs, van Rheenen Wouter, et al.Brain : a Journal of Neurology|April 6, 2006
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathyDirk Fischer, Muriel Herasse, Marc Bitoun, et al.Pageof 26