RFC1: Motifs and phenotypes.

Ataxia CANVAS syndrome DNA repeat expansion Mutation Phenotype RFC1

Journal

Revue neurologique
ISSN: 0035-3787
Titre abrégé: Rev Neurol (Paris)
Pays: France
ID NLM: 2984779R

Informations de publication

Date de publication:
15 Apr 2024
Historique:
received: 30 01 2024
revised: 22 03 2024
accepted: 25 03 2024
medline: 17 4 2024
pubmed: 17 4 2024
entrez: 16 4 2024
Statut: aheadofprint

Résumé

Biallelic intronic expansions (AAGGG)

Identifiants

DOI: 10.1016/j.neurol.2024.03.006 PMID: 38627134
pubmed: 38627134
pii: S0035-3787(24)00484-3
doi: 10.1016/j.neurol.2024.03.006
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2024 The Author(s). Published by Elsevier Masson SAS.. All rights reserved.

Auteurs

V Delforge (V)

Inserm, U1172 - LilNCog - Lille Neuroscience & Cognition, CHU de Lille, University Lille, 59000 Lille, France.

C Tard (C)

Inserm, U1172 - LilNCog - Lille Neuroscience & Cognition, CHU de Lille, University Lille, 59000 Lille, France; Department of Neurology and Movement disorders, CHU de Lille, 59000 Lille, France.

J-B Davion (JB)

Inserm, U1172 - LilNCog - Lille Neuroscience & Cognition, CHU de Lille, University Lille, 59000 Lille, France; Department of Neurology and Movement disorders, CHU de Lille, 59000 Lille, France.

K Dujardin (K)

Inserm, U1172 - LilNCog - Lille Neuroscience & Cognition, CHU de Lille, University Lille, 59000 Lille, France; Department of Neurology and Movement disorders, CHU de Lille, 59000 Lille, France.

A Wissocq (A)

Department of Toxicology and Genopathies, UF Neurobiology, CHU de Lille, 59000 Lille, France.

C-M Dhaenens (CM)

Inserm, U1172 - LilNCog - Lille Neuroscience & Cognition, CHU de Lille, University Lille, 59000 Lille, France; Department of Toxicology and Genopathies, UF Neurobiology, CHU de Lille, 59000 Lille, France.

E Mutez (E)

Inserm, U1172 - LilNCog - Lille Neuroscience & Cognition, CHU de Lille, University Lille, 59000 Lille, France; Department of Neurology and Movement disorders, CHU de Lille, 59000 Lille, France.

V Huin (V)

Inserm, U1172 - LilNCog - Lille Neuroscience & Cognition, CHU de Lille, University Lille, 59000 Lille, France; Department of Toxicology and Genopathies, UF Neurobiology, CHU de Lille, 59000 Lille, France. Electronic address: vincent.huin@inserm.fr.

Classifications MeSH