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Orphanet Journal of Rare Diseases|October 5, 2018
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effectYann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, et al.
Rheumatology (Oxford, England)|December 17, 2008
Distribution and severity of weakness among patients with polymyositis, dermatomyositis and juvenile dermatomyositisM O Harris-Love, J A Shrader, D Koziol, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 1, 2017
Nasal airflow simulations suggest convergent adaptation in Neanderthals and modern humansS de Azevedo, M F González, C Cintas, et al.
Neurobiology of Aging|November 21, 2020
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosisElisa Teyssou, François Muratet, Maria-Del-Mar Amador, 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.
Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, 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.
Revista Espanola De Salud Publica|September 4, 2020
[Descriptive study of the health service workers of a Primary Care Department confined by Covid-19.]Rosa Mª García-Sierra, Esther Badia Perich, Josep Mª Manresa Dominguez, et al.
European Journal of Neurology|August 15, 2022
Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective studyClaire Peillet, David Adams, Shahram Attarian, et al.
Journal of the Neurological Sciences|October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variantsJ Lerat, C Magdelaine, A Lunati, et al.
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