| dc.contributor.author | Fernández-Eulate, Gorka | - |
| dc.contributor.author | Bruneel, Arnaud | - |
| dc.contributor.author | Stojkovic, Tanya | - |
| dc.date.accessioned | 2022-10-18T07:10:44Z | |
| dc.date.available | 2022-10-18T07:10:44Z | |
| dc.date.issued | 2021 | |
| dc.identifier.citation | Fernández-Eulate, Gorka ; Bruneel, Arnaud ; Stojkovic, Tanya ;
Les neuropathies héréditaires associées au gène
SORD
, Med Sci (Paris), Vol. 37, N° HS ; p. 30-31 ; DOI : 10.1051/medsci/2021188 | |
| dc.identifier.issn | 1958-5381 | |
| dc.identifier.uri | http://hdl.handle.net/10608/11974 | |
| dc.description.abstract | Mutations in the
SORD
gene have recently been identified as a cause of autosomal Charcot-Marie-Tooth disease as well as the underlying defect in some cases of hereditary distal motoneuronopathies. Patients may be amenable to therapies in a near future. | en |
| dc.language.iso | fr | |
| dc.publisher | EDP Sciences | |
| dc.relation.ispartof | Mise au point | |
| dc.rights | Article en libre accès | fr |
| dc.rights | Médecine/Sciences - Inserm - SRMS | fr |
| dc.rights.uri | | |
| dc.source | M/S. Médecine sciences [ISSN papier : 0767-0974 ; ISSN numérique : 1958-5381], Vol. 37, N° HS; p. 30-31 | |
| dc.subject.mesh | Maladie de Charcot-Marie-Tooth | fr |
| dc.subject.mesh | Humains | fr |
| dc.subject.mesh | Mutation | fr |
| dc.subject.mesh | diagnostic | fr |
| dc.subject.mesh | génétique | fr |
| dc.title | Les neuropathies héréditaires associées au gène
SORD | fr |
| dc.title.alternative | SORD
-related hereditary neuropathies | en |
| dc.type | Article | |
| dc.contributor.affiliation | Centre de Référence des Maladies Neuromusculaires Nord-Est/Île-de-France, Institut de Myologie, GHU Pitié-Salpêtrière, AP-HP , Paris , France | |
| dc.contributor.affiliation | Centre de Référence des Maladies Lysosomales, GHU Pitié-Salpêtrière, AP-HP , Paris , France | |
| dc.contributor.affiliation | Service de Biochimie Métabolique et Cellulaire, CHU Bichat, AP-HP , Paris , France | |
| dc.identifier.doi | 10.1051/medsci/2021188 | |
| dc.identifier.pmid | 34878391 | |
