Repeat expansions in
NOP56
SCA36
repeat expansion
spinocerebellar ataxia
whole-genome sequencing
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2023
2023
Historique:
received:
16
01
2023
revised:
11
07
2023
accepted:
12
09
2023
medline:
9
10
2023
pubmed:
9
10
2023
entrez:
9
10
2023
Statut:
epublish
Résumé
Spinocerebellar ataxias form a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia. Their prevalence varies among populations and ethnicities. Spinocerebellar ataxia 36 is caused by a GGCCTG repeat expansion in the first intron of the
Identifiants
pubmed: 37810464
doi: 10.1093/braincomms/fcad244
pii: fcad244
pmc: PMC10558097
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcad244Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S006753/1
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
Investigateurs
J C Ambrose
(JC)
P Arumugam
(P)
R Bevers
(R)
M Bleda
(M)
F Boardman-Pretty
(F)
C R Boustred
(CR)
H Brittain
(H)
M A Brown
(MA)
M J Caulfield
(MJ)
G C Chan
(GC)
A Giess
(A)
J N Griffin
(JN)
A Hamblin
(A)
S Henderson
(S)
T J P Hubbard
(TJP)
R Jackson
(R)
L J Jones
(LJ)
D Kasperaviciute
(D)
M Kayikci
(M)
A Kousathanas
(A)
L Lahnstein
(L)
A Lakey
(A)
S E A Leigh
(SEA)
I U S Leong
(IUS)
F J Lopez
(FJ)
F Maleady-Crowe
(F)
M McEntagart
(M)
F Minneci
(F)
J Mitchell
(J)
L Moutsianas
(L)
M Mueller
(M)
N Murugaesu
(N)
A C Need
(AC)
P O'Donovan
(P)
C A Odhams
(CA)
C Patch
(C)
D Perez-Gil
(D)
M B Pereira
(MB)
J Pullinger
(J)
T Rahim
(T)
A Rendon
(A)
T Rogers
(T)
K Savage
(K)
K Sawant
(K)
R H Scott
(RH)
A Siddiq
(A)
A Sieghart
(A)
S C Smith
(SC)
A Sosinsky
(A)
A Stuckey
(A)
M Tanguy
(M)
A L Taylor Tavares
(AL)
E R A Thomas
(ERA)
S R Thompson
(SR)
A Tucci
(A)
M J Welland
(MJ)
E Williams
(E)
K Witkowska
(K)
S M Wood
(SM)
M Zarowiecki
(M)
Informations de copyright
© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.
Déclaration de conflit d'intérêts
The authors report no competing interests.
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