Levodopa-responsive dystonia caused by biallelic
PARK2
PRKN
Parkinson's disease
dystonia
structural variants
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:
08
04
2021
revised:
20
06
2021
accepted:
05
07
2021
entrez:
13
9
2021
pubmed:
14
9
2021
medline:
14
9
2021
Statut:
epublish
Résumé
Biallelic pathogenic variants in
Identifiants
pubmed: 34514401
doi: 10.1093/braincomms/fcab197
pii: fcab197
pmc: PMC8421701
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcab197Informations de copyright
© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.
Références
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Genome Med. 2010 Feb 12;2(2):11
pubmed: 20156332
J Appl Genet. 2015 Nov;56(4):451-461
pubmed: 25833766
N Engl J Med. 2000 May 25;342(21):1560-7
pubmed: 10824074
J Parkinsons Dis. 2018;8(s1):S25-S30
pubmed: 30584170
Cancer Lett. 2006 Jan 28;232(1):48-57
pubmed: 16221525
Nature. 1998 Apr 9;392(6676):605-8
pubmed: 9560156
BMC Med Genomics. 2019 Dec 30;12(1):200
pubmed: 31888639
Hum Genet. 2017 Jan;136(1):13-37
pubmed: 27896429
Bioinformatics. 2017 Oct 1;33(19):3088-3090
pubmed: 28575171
BMC Genomics. 2016 Jun 23;17 Suppl 2:444
pubmed: 27357693
Genome Biol. 2016 Jun 06;17(1):122
pubmed: 27268795
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Brain. 2000 Jun;123 ( Pt 6):1112-21
pubmed: 10825351
Biochem Biophys Res Commun. 2009 Nov 6;389(1):181-6
pubmed: 19715670
Cytogenet Genome Res. 2003;101(1):8-16
pubmed: 14571130
Hum Mol Genet. 2001 Aug 1;10(16):1649-56
pubmed: 11487568
Mol Genet Genomic Med. 2018 Nov;6(6):1243-1248
pubmed: 30328284
Mov Disord. 2018 Jan;33(1):21-35
pubmed: 28861905
Brain. 2003 Jun;126(Pt 6):1279-92
pubmed: 12764051
Neurol Genet. 2016 May 03;2(3):e73
pubmed: 27182553
Am J Hum Genet. 2010 Jul 9;87(1):75-89
pubmed: 20598272
Ann Neurol. 2012 Apr;71(4):520-30
pubmed: 22522443
Neurology. 1993 Aug;43(8):1563-8
pubmed: 8351012
Hum Mutat. 2013 Aug;34(8):1071-4
pubmed: 23616242
Ann Neurol. 2001 Sep;50(3):293-300
pubmed: 11558785
J Med Genet. 2017 Apr;54(4):278-286
pubmed: 27799408
Trends Genet. 2009 Jul;25(7):298-307
pubmed: 19560228