SCA27 is a cause of early-onset ataxia and developmental delay.
dc.rights.license | open | en_US |
hal.structure.identifier | Service de génétique médicale | |
hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
dc.contributor.author | PLANES, Marc | |
hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
dc.contributor.author | ROORYCK, Caroline | |
hal.structure.identifier | Service de génétique médicale | |
hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
dc.contributor.author | VUILLAUME, Marie-Laure | |
hal.structure.identifier | Service de génétique médicale | |
hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
dc.contributor.author | BESNARD, Lucie | |
hal.structure.identifier | Service de génétique médicale | |
hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
dc.contributor.author | BOURON, Julie | |
hal.structure.identifier | Service de génétique médicale | |
hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
dc.contributor.author | LACOMBE, Didier | |
hal.structure.identifier | Service de génétique médicale | |
hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
dc.contributor.author | ARVEILER, Benoit | |
hal.structure.identifier | Service de génétique médicale | |
hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
dc.contributor.author | GOIZET, Cyril | |
dc.date.accessioned | 2024-12-06T17:30:03Z | |
dc.date.available | 2024-12-06T17:30:03Z | |
dc.date.issued | 2015-03-01 | |
dc.identifier.issn | 1532-2130 | en_US |
dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/203746 | |
dc.language.iso | EN | en_US |
dc.title.en | SCA27 is a cause of early-onset ataxia and developmental delay. | |
dc.title.alternative | Eur J Paediatr Neurol | en_US |
dc.type | Article de revue | en_US |
dc.identifier.doi | 10.1016/j.ejpn.2014.11.013 | en_US |
dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
dc.identifier.pubmed | 25530029 | en_US |
bordeaux.journal | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | en_US |
bordeaux.page | 271-3 | en_US |
bordeaux.volume | 19 | en_US |
bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
bordeaux.issue | 2 | 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.identifier | hal-04824283 | |
hal.version | 1 | |
hal.date.transferred | 2024-12-06T17:30:05Z | |
hal.popular | non | en_US |
hal.audience | Internationale | en_US |
hal.export | true | |
workflow.import.source | pubmed | |
dc.rights.cc | Pas de Licence CC | en_US |
bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=European%20journal%20of%20paediatric%20neurology%20:%20EJPN%20:%20official%20journal%20of%20the%20European%20Paediatric%20Neurology%20Society&rft.date=2015-03-01&rft.volume=19&rft.issue=2&rft.spage=271-3&rft.epage=271-3&rft.eissn=1532-2130&rft.issn=1532-2130&rft.au=PLANES,%20Marc&ROORYCK,%20Caroline&VUILLAUME,%20Marie-Laure&BESNARD,%20Lucie&BOURON,%20Julie&rft.genre=article |
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