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Journal of Neuromuscular Diseases|January 22, 2024
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE RegistryLaurent Servais, John W Day, Darryl C De Vivo, et al.
Human Mutation|June 29, 2010
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhoodCaroline Michot, Laurence Hubert, Michèle Brivet, et al.
Journal of Neuromuscular Diseases|December 3, 2016
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 PatientsSarah Grotto, Jean-Marie Cuisset, Stéphane Marret, et al.
Neurology. Genetics|April 11, 2025
Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population: Registre SMA FranceLorène Gerin, Juliette Ropars, Rocío Garcia-Uzquiano, et al.
Human Molecular Genetics|July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expressionFatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.
Brain : a Journal of Neurology|March 22, 2006
Delineation of the motor disorder of Lesch-Nyhan diseaseH A Jinnah, Jasper E Visser, James C Harris, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|December 23, 2024
Long-Term Clinical and Biological Prognostic Factors of Anti-NMDA Receptor Encephalitis in ChildrenMaxime Mazowiecki, Lorraine Flet-Berliac, Julia Roux, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 14, 2012
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathyFrançois Cartault, Patrick Munier, Edgar Benko, et al.
Neurology|December 28, 2012
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPANPenelope Hogarth, Allison Gregory, Michael C Kruer, et al.
Skeletal Muscle|December 15, 2015
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophyFernanda Pinto-Mariz, Luciana Rodrigues Carvalho, Alexandra Prufer De Queiroz Campos Araujo, et al.
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