GGC Repeat Expansion in the

GGC repeat expansions NOTCH2NLC NOTCH2NLC-related repeat expansion spectrum inherited peripheral neuropathy motor–sensory and autonomic neuropathy

Journal

Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621

Informations de publication

Date de publication:
2021
Historique:
received: 13 04 2021
accepted: 07 06 2021
entrez: 26 7 2021
pubmed: 27 7 2021
medline: 27 7 2021
Statut: epublish

Résumé

There is still a considerable proportion of patients with inherited peripheral neuropathy (IPN) whose pathogenic genes are unknown. This study was intended to investigate whether the GGC repeat expansion in the

Identifiants

pubmed: 34306035
doi: 10.3389/fgene.2021.694790
pmc: PMC8293674
doi:

Types de publication

Journal Article

Langues

eng

Pagination

694790

Informations de copyright

Copyright © 2021 Wang, Yu, Yu, Deng, Zhang, Lv, Liu, Shi, Liang, Jia, Hong, Meng, Wang and Yuan.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Références

Neuron. 2021 Jun 2;109(11):1825-1835.e5
pubmed: 33887199
Brain. 2021 Mar 09;:
pubmed: 33693509
Neurology. 2020 Dec 15;95(24):e3394-e3405
pubmed: 32989102
Curr Opin Neurol. 2019 Oct;32(5):641-650
pubmed: 31343428
Arq Neuropsiquiatr. 2014 Apr;72(4):269-72
pubmed: 24760089
Nat Genet. 2019 Aug;51(8):1215-1221
pubmed: 31332381
J Neural Transm (Vienna). 2021 Mar;128(3):295-303
pubmed: 33599827
Chest. 2006 Jan;129(1 Suppl):33S-47S
pubmed: 16428690
Acta Neuropathol Commun. 2020 Nov 25;8(1):204
pubmed: 33239111
Brain. 2016 Dec;139(Pt 12):3170-3186
pubmed: 27797808
Brain. 2019 Jan 1;143(1):222-233
pubmed: 31819945
Neuropathology. 2019 Jun;39(3):194-199
pubmed: 30957313
Ann Neurol. 2021 Jan;89(1):182-187
pubmed: 33016348
Nat Rev Neurol. 2019 Nov;15(11):644-656
pubmed: 31582811
Am J Hum Genet. 2020 Jun 4;106(6):793-804
pubmed: 32413282
Ann Clin Transl Neurol. 2020 Oct;7(10):1930-1941
pubmed: 32931652
Ann Clin Transl Neurol. 2021 Apr;8(4):831-841
pubmed: 33739616
BMJ. 2015 Dec 14;351:h5590
pubmed: 26666537
Nat Genet. 2019 Aug;51(8):1222-1232
pubmed: 31332380
Neuropathology. 2003 Dec;23(4):351-9
pubmed: 14719553
Brain. 1970;93(1):15-30
pubmed: 5418399
Am J Hum Genet. 2019 Jul 3;105(1):166-176
pubmed: 31178126
Brain. 2019 Jan 1;143(1):5-8
pubmed: 31886491
Neurology. 2005 Nov 22;65(10):1538-43
pubmed: 16301479
Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97
pubmed: 29478438
Acta Neuropathol. 1985;65(3-4):285-92
pubmed: 2983512
Orphanet J Rare Dis. 2020 Jul 8;15(1):181
pubmed: 32641139
Brain. 2005 Dec;128(Pt 12):2797-810
pubmed: 16311270
Hum Mutat. 2016 May;37(5):473-80
pubmed: 26786738
Eur J Neurol. 2020 Jul;27(7):1319-1326
pubmed: 32298515
J Med Genet. 2019 Nov;56(11):758-764
pubmed: 31413119
Brain. 1985 Dec;108 ( Pt 4):897-924
pubmed: 4075078
J Med Genet. 2021 Mar 25;:
pubmed: 33766934
J Clin Neurosci. 2019 Feb;60:164-166
pubmed: 30361054
Curr Opin Neurol. 2017 Oct;30(5):481-489
pubmed: 28678039
Neurology. 1999 Nov 10;53(8):1634-40
pubmed: 10563605

Auteurs

Hui Wang (H)

Department of Neurology, Peking University First Hospital, Beijing, China.

Jiaxi Yu (J)

Department of Neurology, Peking University First Hospital, Beijing, China.

Meng Yu (M)

Department of Neurology, Peking University First Hospital, Beijing, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.

Jianwen Deng (J)

Department of Neurology, Peking University First Hospital, Beijing, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.

Wei Zhang (W)

Department of Neurology, Peking University First Hospital, Beijing, China.

He Lv (H)

Department of Neurology, Peking University First Hospital, Beijing, China.

Jing Liu (J)

Department of Neurology, Peking University First Hospital, Beijing, China.

Xin Shi (X)

Department of Neurology, Peking University First Hospital, Beijing, China.

Wei Liang (W)

Department of Neurology, Peking University First Hospital, Beijing, China.

Zhirong Jia (Z)

Department of Neurology, Peking University First Hospital, Beijing, China.

Daojun Hong (D)

Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.

Lingchao Meng (L)

Department of Neurology, Peking University First Hospital, Beijing, China.

Zhaoxia Wang (Z)

Department of Neurology, Peking University First Hospital, Beijing, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.

Yun Yuan (Y)

Department of Neurology, Peking University First Hospital, Beijing, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.

Classifications MeSH