Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
Parkinson's disease
RFC1 disease
repeat expansion diseases
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
05 2023
05 2023
Historique:
revised:
19
01
2023
received:
22
12
2022
accepted:
23
01
2023
medline:
6
4
2023
pubmed:
28
1
2023
entrez:
27
1
2023
Statut:
ppublish
Résumé
The biallelic repeat expansion (AAGGG) A nationwide cohort of 273 Finnish patients with early-onset PD was examined for the biallelic intronic expansion in RFC1. The expansion (AAGGG) Three patients were found with the biallelic (AAGGG) Our results suggest that (AAGGG)
Sections du résumé
BACKGROUND AND PURPOSE
The biallelic repeat expansion (AAGGG)
METHODS
A nationwide cohort of 273 Finnish patients with early-onset PD was examined for the biallelic intronic expansion in RFC1. The expansion (AAGGG)
RESULTS
Three patients were found with the biallelic (AAGGG)
CONCLUSIONS
Our results suggest that (AAGGG)
Substances chimiques
RFC1 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1256-1261Informations de copyright
© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.
Références
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