The Clinical and Polynucleotide Repeat Expansion Analysis of
ATXN2
C9orf72
amyotrophic lateral sclerosis
neurodegenerative disease
nucleotide repeat expansion
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2022
2022
Historique:
received:
08
11
2021
accepted:
04
04
2022
entrez:
23
5
2022
pubmed:
24
5
2022
medline:
24
5
2022
Statut:
epublish
Résumé
Repeat expansions, including those in In this study, 736 ALS patients and several hundred healthy controls were recruited. Polymerase chain reaction (PCR) and repeat-primed PCR (RP-PCR) were performed to determine the repeat lengths in GGGGCC repeats in Our results demonstrated that pathogenetic repeats in
Sections du résumé
Background
Repeat expansions, including those in
Methods
In this study, 736 ALS patients and several hundred healthy controls were recruited. Polymerase chain reaction (PCR) and repeat-primed PCR (RP-PCR) were performed to determine the repeat lengths in
Results
GGGGCC repeats in
Conclusions
Our results demonstrated that pathogenetic repeats in
Identifiants
pubmed: 35599735
doi: 10.3389/fneur.2022.811202
pmc: PMC9120572
doi:
Types de publication
Journal Article
Langues
eng
Pagination
811202Informations de copyright
Copyright © 2022 Hou, Li, Liu, Liu, Yuan, Ni, Shen, Tang and Wang.
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
Neurobiol Aging. 2018 Jul;67:201.e5-201.e8
pubmed: 29665996
Nat Genet. 1996 Nov;14(3):285-91
pubmed: 8896557
Hum Mol Genet. 2011 May 1;20(9):1697-700
pubmed: 21292779
Brain. 1989 Feb;112 ( Pt 1):209-32
pubmed: 2917278
Curr Opin Genet Dev. 2017 Jun;44:117-124
pubmed: 28319737
Clin Genet. 2016 Aug;90(2):141-8
pubmed: 26661328
J Neurol Sci. 2019 Jun 15;401:51-54
pubmed: 31009932
Neuron. 2011 Oct 20;72(2):257-68
pubmed: 21944779
Acta Neuropathol. 2014 Oct;128(4):597-604
pubmed: 24718895
Neurogenetics. 2019 May;20(2):65-71
pubmed: 30847648
Neurobiol Aging. 2011 Oct;32(10):1925.e1-5
pubmed: 21741123
PLoS One. 2014 Aug 22;9(8):e105534
pubmed: 25148523
PLoS One. 2012;7(8):e42956
pubmed: 22916186
Neurobiol Aging. 2012 Oct;33(10):2527.e11-6
pubmed: 22727276
Lancet Neurol. 2012 Jan;11(1):54-65
pubmed: 22154785
Hum Genet. 2011 Oct;130(4):575-80
pubmed: 21537950
Neurology. 2011 Jun 14;76(24):2062-5
pubmed: 21562248
JAMA Neurol. 2014 Dec;71(12):1529-34
pubmed: 25285812
Neurology. 2006 Jan 24;66(2):265-7
pubmed: 16434671
Lancet Neurol. 2012 Apr;11(4):323-30
pubmed: 22406228
J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):163-9
pubmed: 23117491
Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):291-2
pubmed: 26121170
Neurol Res. 2013 Sep;35(7):744-54
pubmed: 23582672
Neurobiol Aging. 2017 Mar;51:178.e1-178.e9
pubmed: 28017481
Hum Mutat. 2013 Jan;34(1):79-82
pubmed: 22936364
Neurobiol Aging. 2019 Feb;74:234.e1-234.e8
pubmed: 30337192
Neurobiol Aging. 2014 Apr;35(4):936.e19-22
pubmed: 24269022
Neurobiol Aging. 2015 Mar;36(3):1603.e11-4
pubmed: 25457026
Neurol Genet. 2018 Aug 01;4(4):e252
pubmed: 30109267
Neurobiol Aging. 2015 Oct;36(10):2906.e1-5
pubmed: 26208502
Neurobiol Aging. 2013 Sep;34(9):2236.e5-8
pubmed: 23635656
JAMA Neurol. 2013 Oct;70(10):1302-4
pubmed: 23959108
J Neurosci. 2012 Jul 4;32(27):9133-42
pubmed: 22764223
Lancet Neurol. 2018 Jan;17(1):94-102
pubmed: 29154141
Br J Pharmacol. 2019 Jul;176(13):2111-2130
pubmed: 30849180
Neurol Sci. 2019 Dec;40(12):2537-2540
pubmed: 31286297
Hum Mol Genet. 2011 Aug 15;20(16):3207-12
pubmed: 21610160
Front Neurosci. 2019 May 17;13:485
pubmed: 31156370
Neurobiol Aging. 2013 Apr;34(4):1311.e7-9
pubmed: 23088937
Neurobiol Aging. 2021 Nov;107:181-188
pubmed: 34275688
Nature. 2010 Aug 26;466(7310):1069-75
pubmed: 20740007
Neurol Genet. 2016 Apr 12;2(3):e68
pubmed: 27123487
Neurobiol Aging. 2014 Apr;35(4):936.e1-4
pubmed: 24269018
Neurology. 2015 Jan 20;84(3):251-8
pubmed: 25527265
J Clin Endocrinol Metab. 2001 Sep;86(9):4406-11
pubmed: 11549683
Neurobiol Aging. 2012 May;33(5):1004.e17-20
pubmed: 22035589
Neurology. 2011 Jun 14;76(24):2066-72
pubmed: 21562247
Neurobiol Aging. 2016 Feb;38:217.e15-217.e22
pubmed: 26725464
Genome Biol. 2020 Apr 28;21(1):102
pubmed: 32345345
PLoS One. 2011 Mar 29;6(3):e17951
pubmed: 21479228
Brain. 2012 May;135(Pt 5):1423-35
pubmed: 22492559
J Biol Chem. 2005 Feb 4;280(5):3898-910
pubmed: 15533937
Neurology. 2011 Jun 7;76(23):2030-1
pubmed: 21646631
Neuron. 2020 Jul 22;107(2):202-204
pubmed: 32702342