Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS
dc.rights.license | open | en_US |
dc.contributor.author | GUISSART, Claire | |
dc.contributor.author | DE LA CRUZ, Elisa | |
dc.contributor.author | FLABEAU, Olivier | |
dc.contributor.author | GRAPPERON, Aude-Marie | |
dc.contributor.author | CORAZZA, Giovanni | |
dc.contributor.author | JUNILHON, Lucie | |
dc.contributor.author | DELMAS, Jean-Charles | |
dc.contributor.author | MILLECAMPS, Stéphanie | |
dc.contributor.author | POLGE, Anne | |
dc.contributor.author | AMADOR, Maria Del Mar | |
dc.contributor.author | SALACHAS, Francois | |
dc.contributor.author | ROCHAT, Julie | |
hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
dc.contributor.author | GOIZET, Cyril | |
dc.contributor.author | JUNTAS MORALES, Raul | |
dc.contributor.author | LUMBROSO, Serge | |
dc.contributor.author | PHILIBERT, Pascal | |
dc.contributor.author | CHEILLAN, David | |
dc.contributor.author | MOUZAT, Kevin | |
dc.date.accessioned | 2024-12-20T16:59:16Z | |
dc.date.available | 2024-12-20T16:59:16Z | |
dc.date.issued | 2024-02-14 | |
dc.identifier.issn | 1468-330X | en_US |
dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/204057 | |
dc.language.iso | EN | en_US |
dc.subject.en | Humans | |
dc.subject.en | Amyotrophic Lateral Sclerosis | |
dc.subject.en | Mutation | |
dc.subject.en | Serine C-Palmitoyltransferase | |
dc.title.en | Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS | |
dc.title.alternative | J Neurol Neurosurg Psychiatry | en_US |
dc.type | Article de revue | en_US |
dc.identifier.doi | 10.1136/jnnp-2023-331753 | en_US |
dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
dc.identifier.pubmed | 38041669 | en_US |
bordeaux.journal | Journal of Neurology, Neurosurgery and Psychiatry | en_US |
bordeaux.page | 288-290 | en_US |
bordeaux.volume | 95 | en_US |
bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
bordeaux.issue | 3 | en_US |
bordeaux.institution | Université de Bordeaux | en_US |
bordeaux.institution | INSERM | en_US |
bordeaux.peerReviewed | oui | en_US |
bordeaux.inpress | non | en_US |
bordeaux.import.source | pubmed | |
hal.popular | non | en_US |
hal.audience | Internationale | en_US |
hal.export | false | |
workflow.import.source | pubmed | |
dc.rights.cc | Pas de Licence CC | en_US |
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