Intronic
CEREBELLAR ATAXIA
MOVEMENT DISORDERS
NEUROGENETICS
NEUROPATHY
VERTIGO
Journal
Journal of neurology, neurosurgery, and psychiatry
ISSN: 1468-330X
Titre abrégé: J Neurol Neurosurg Psychiatry
Pays: England
ID NLM: 2985191R
Informations de publication
Date de publication:
11 Jan 2024
11 Jan 2024
Historique:
received:
15
03
2023
accepted:
25
05
2023
medline:
15
1
2024
pubmed:
3
7
2023
entrez:
3
7
2023
Statut:
epublish
Résumé
Intronic GAA repeat expansions in the fibroblast growth factor 14 gene ( We recruited 45 patients negative for biallelic Frequency of GAA-
Sections du résumé
BACKGROUND
BACKGROUND
Intronic GAA repeat expansions in the fibroblast growth factor 14 gene (
METHODS
METHODS
We recruited 45 patients negative for biallelic
RESULTS
RESULTS
Frequency of
CONCLUSIONS
CONCLUSIONS
GAA-
Identifiants
pubmed: 37399286
pii: jnnp-2023-331490
doi: 10.1136/jnnp-2023-331490
pmc: PMC10850669
doi:
Substances chimiques
fibroblast growth factor 14
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
175-179Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N028767/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S01165X/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T001712/1
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: DP reports no disclosures. CW reports no disclosures. AT reports no disclosures. SN reports no disclosures. RC reports no disclosures. M-JD reports no disclosures. HG-M reports no disclosures. MA has received consultancy honoraria from Merz, Ipsen Pharmaceuticals, Orkyn, AbbVie, Reata, Ever Pharma, all unrelated to the present manuscript. TW has received consultancy honoraria from Ipsen Pharmaceuticals and AbbVie, all unrelated to the present manuscript. JF reports no disclosures. DT reports no disclosures. CD reports no disclosures. DR has received grant/research support from Janssen and Lundbeck; he has served as a consultant or on advisory boards for AC Immune, Janssen, Roche and Rovi and he has served on speakers bureaus of Janssen and Pharmagenetix. He also received honoraria from Gerot Lannacher, Janssen and Pharmagenetix, and travel support from Angelini and Janssen, all unrelated to the present manuscript. JG reports no disclosures. MMR reports no disclosures. PG reports no disclosures. BB reports no disclosures. HH reports no disclosures. LS reports no disclosures. MSt reports no disclosures. AC reports no disclosures. MSy has received consultancy honoraria from Janssen, Ionis, Orphazyme, Servier, Reata, GenOrph and AviadoBio, all unrelated to the present manuscript.
Références
Front Neurol. 2016 Apr 20;7:58
pubmed: 27148159
Sci Rep. 2023 Jun 15;13(1):9737
pubmed: 37322040
Nat Genet. 2019 Apr;51(4):649-658
pubmed: 30926972
J Neurol Neurosurg Psychiatry. 2003 Oct;74(10):1403-6
pubmed: 14570834
Brain. 2021 Jun 22;144(5):1542-1550
pubmed: 33969391
Neurology. 2021 Mar 2;96(9):e1369-e1382
pubmed: 33495376
Cerebellum Ataxias. 2020 May 28;7:6
pubmed: 32514364
Int Arch Otorhinolaryngol. 2017 Jan;21(1):79-85
pubmed: 28050212
Lancet Neurol. 2010 Jan;9(1):94-104
pubmed: 20083040
Brain. 2022 Jun 30;145(6):2121-2132
pubmed: 34927205
Brain. 2020 Feb 1;143(2):480-490
pubmed: 32040566
Neurology. 2016 Nov 1;87(18):1892-1898
pubmed: 27683845
Brain. 2023 Oct 3;146(10):4144-4157
pubmed: 37165652
Neurology. 2020 Nov 24;95(21):e2912-e2923
pubmed: 32873692
Neurol Clin Pract. 2016 Feb;6(1):61-68
pubmed: 26918204
Arch Neurol. 1998 Oct;55(10):1353-7
pubmed: 9779665
J Neurol. 1999 Sep;246(9):789-97
pubmed: 10525976
Neurol Genet. 2022 Aug 29;8(5):e200016
pubmed: 36046423
N Engl J Med. 2023 Jan 12;388(2):128-141
pubmed: 36516086
Am J Hum Genet. 2023 Jun 1;110(6):1018
pubmed: 37267898
Brain. 2022 Apr 29;145(3):e6-e9
pubmed: 35230382