Dominant
ACO2
Krebs cycle
aconitase 2
mitochondria
optic neuropathy
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2021
2021
Historique:
received:
12
11
2021
revised:
11
02
2021
accepted:
12
02
2021
entrez:
31
5
2021
pubmed:
1
6
2021
medline:
1
6
2021
Statut:
epublish
Résumé
Biallelic mutations in
Identifiants
pubmed: 34056600
doi: 10.1093/braincomms/fcab063
pii: fcab063
pmc: PMC8152918
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcab063Subventions
Organisme : Medical Research Council
ID : G0701386
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1002570
Pays : United Kingdom
Informations de copyright
© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.
Références
J Inherit Metab Dis. 2019 Mar;42(2):264-275
pubmed: 30689204
Ophthalmic Genet. 2018 Oct;39(5):648-651
pubmed: 30118607
Am J Hum Genet. 2016 Sep 1;99(3):695-703
pubmed: 27545681
J Biomol Struct Dyn. 2020 Sep;38(15):4600-4606
pubmed: 31595844
Ophthalmology. 2016 Sep;123(9):1989-98
pubmed: 27395765
J Child Neurol. 2017 Aug;32(9):840-845
pubmed: 28545339
Neurol Genet. 2020 May 20;6(3):e428
pubmed: 32548275
J Med Genet. 2004 Sep;41(9):e110
pubmed: 15342707
Neurol Genet. 2018 Mar 20;4(2):e225
pubmed: 29564393
Mol Genet Genomic Med. 2019 Jul;7(7):e00698
pubmed: 31106992
PLoS One. 2015 Jun 05;10(6):e0127906
pubmed: 26047507
J Clin Invest. 2020 Jan 2;130(1):143-156
pubmed: 31550237
Ann Neurol. 2020 Jul;88(1):18-32
pubmed: 32219868
Am J Hum Genet. 2009 Apr;84(4):493-8
pubmed: 19327736
PLoS One. 2019 Nov 25;14(11):e0225656
pubmed: 31765440
Bioinformatics. 2013 Apr 1;29(7):845-54
pubmed: 23407358
Neurol Genet. 2018 Mar 21;4(2):e223
pubmed: 29577077
Br J Ophthalmol. 2008 Oct;92(10):1333-6
pubmed: 18653586
J Med Genet. 2014 Dec;51(12):834-8
pubmed: 25351951
Brain. 2013 Jul;136(Pt 7):e239
pubmed: 23396580
JAMA Neurol. 2018 Jan 1;75(1):105-113
pubmed: 29181510
J Comput Chem. 2009 Dec;30(16):2785-91
pubmed: 19399780
Protein Sci. 1999 Dec;8(12):2655-62
pubmed: 10631981
Hum Mutat. 2016 Jun;37(6):564-9
pubmed: 26931183
Am J Hum Genet. 2015 Nov 5;97(5):754-60
pubmed: 26593267
J Med Genet. 2017 May;54(5):346-356
pubmed: 28031252
Brain. 2017 Oct 1;140(10):2586-2596
pubmed: 28969390
Nucleic Acids Res. 2012 Jul;40(Web Server issue):W452-7
pubmed: 22689647
J Intern Med. 2020 Jun;287(6):592-608
pubmed: 32463135
Brain. 2012 Jan;135(Pt 1):23-34
pubmed: 22189565
J Clin Invest. 2020 Jan 2;130(1):108-125
pubmed: 31550240
Brain. 2010 Mar;133(Pt 3):771-86
pubmed: 20157015
Mitochondrion. 2009 Sep;9(5):331-9
pubmed: 19439198
Ann Clin Transl Neurol. 2020 Jun;7(6):1013-1028
pubmed: 32519519
J Med Genet. 1998 Oct;35(10):793-800
pubmed: 9783700
Mol Genet Metab. 2016 May;118(1):28-34
pubmed: 26992325
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Biochem J. 1952 Nov;52(3):527-8
pubmed: 13018271
Orphanet J Rare Dis. 2012 Jul 09;7:46
pubmed: 22776096
Prog Retin Eye Res. 2020 Dec 17;:100935
pubmed: 33340656
Am J Med Genet A. 2020 Aug;182(8):1960-1966
pubmed: 32449285
Ann Neurol. 2019 Sep;86(3):368-383
pubmed: 31298765
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928
Am J Hum Genet. 2012 Mar 9;90(3):518-23
pubmed: 22405087