1
|
Nibbeling EAR, Duarri A,
Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM,
de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, et al:
Exome sequencing and network analysis identifies shared mechanisms
underlying spinocerebellar ataxia. Brain. 140:2860–2878. 2017.
View Article : Google Scholar : PubMed/NCBI
|
2
|
Dell'Orco JM, Pulst SM and Shakkottai VG:
Potassium channel dysfunction underlies Purkinje neuron spiking
abnormalities in spinocerebellar ataxia type 2. Hum Mol Genet.
26:3935–3945. 2017. View Article : Google Scholar : PubMed/NCBI
|
3
|
Sutton JR, Blount JR, Libohova K, Tsou WL,
Joshi GS, Paulson HL, Costa MDC, Scaglione KM and Todi SV:
Interaction of the polyglutamine protein ataxin-3 with Rad23
regulates toxicity in drosophila models of spinocerebellar ataxia
type 3. Hum Mol Genet. 26:1419–1431. 2017. View Article : Google Scholar : PubMed/NCBI
|
4
|
Terada T, Kono S, Konishi T, Miyajima H
and Ouchi Y: Altered GABAergic system in the living brain of a
patient with spinocerebellar ataxia type 8. J Neurol.
260:3164–3166. 2013. View Article : Google Scholar : PubMed/NCBI
|
5
|
du Montcel Tezenas S, Durr A, Bauer P,
Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls
L, Mariotti C, et al: Modulation of the age at onset in
spinocerebellar ataxia by CAG tracts in various genes. Brain.
137:2444–2455. 2014. View Article : Google Scholar : PubMed/NCBI
|
6
|
Li M, Pang SY, Song Y, Kung MH, Ho SL and
Sham PC: Whole exome sequencing identifies a novel mutation in the
transglutaminase 6 gene for spinocerebellar ataxia in a Chinese
family. Clin Genet. 83:269–273. 2013. View Article : Google Scholar : PubMed/NCBI
|
7
|
Rothberg Gould BE and Rothberg JM:
Massively parallel (‘next-generation’) DNA sequencing. Clin Chem.
61:997–998. 2015. View Article : Google Scholar : PubMed/NCBI
|
8
|
Miller SA, Dykes DD and Polesky HF: A
simple salting out procedure for extracting DNA from human
nucleated cells. Nucleic Acids Res. 16:12151988. View Article : Google Scholar : PubMed/NCBI
|
9
|
Shakkottai VG and Fogel BL: Clinical
neurogenetics: Autosomal dominant spinocerebellar ataxia. Neurol
Clin. 31:987–1007. 2013. View Article : Google Scholar : PubMed/NCBI
|
10
|
Melo AR, Ramos A, Kazachkova N, Raposo M,
Bettencourt BF, Rendeiro AR, Kay T, Vasconcelos J, Bruges-Armas J
and Lima M: Triplet repeat primed PCR (TP-PCR) in molecular
diagnostic testing for spinocerebellar ataxia type 3 (SCA3). Mol
Diagn Ther. 20:617–622. 2016. View Article : Google Scholar : PubMed/NCBI
|
11
|
Scoles DR, Meera P, Schneider MD, Paul S,
Dansithong W, Figueroa KP, Hung G, Rigo F, Bennett CF, Otis TS and
Pulst SM: Antisense oligonucleotide therapy for spinocerebellar
ataxia type 2. Nature. 544:362–366. 2017. View Article : Google Scholar : PubMed/NCBI
|
12
|
Lai S, O'Callaghan B, Zoghbi HY and Orr
HT: 14-3-3 Binding to ataxin-1(ATXN1) regulates its
dephosphorylation at Ser-776 and transport to the nucleus. J Biol
Chem. 286:34606–34616. 2011. View Article : Google Scholar : PubMed/NCBI
|
13
|
McMurray CT: Mechanisms of trinucleotide
repeat instability during human development. Nat Rev Genet.
11:786–799. 2010. View
Article : Google Scholar : PubMed/NCBI
|
14
|
Chatterjee N, Lin Y, Santillan BA, Yotnda
P and Wilson JH: Environmental stress induces trinucleotide repeat
mutagenesis in human cells. Proc Natl Acad Sci USA. 112:3764–3769.
2015.PubMed/NCBI
|
15
|
Wang J, Shen L, Lei L, Xu Q, Zhou J, Liu
Y, Guan W, Pan Q, Xia K, Tang B and Jiang H: Spinocerebellar
ataxias in mainland China: an updated genetic analysis among a
large cohort of familial and sporadic cases. Zhong Nan Da Xue Xue
Bao Yi Xue Ban. 36:482–489. 2011.PubMed/NCBI
|