Detalhe da pesquisa
1.
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.
Pract Neurol
; 22(1): 14-18, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34389644
2.
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Mov Disord
; 36(1): 251-255, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026126
3.
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Brain
; 143(10): 2904-2910, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33103729
4.
A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Brain
; 143(9): 2673-2680, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851396
5.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
; 143(2): 480-490, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040566
6.
Psychometric Testing of Three Chinese Online-Related Addictive Behavior Instruments among Hong Kong University Students.
Psychiatr Q
; 90(1): 117-128, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30328020
7.
NOTCH2NLC Intermediate-Length Repeat Expansion and Parkinson's Disease in Patients of European Descent.
Ann Neurol
; 89(3): 633-635, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33377220
8.
Targeted Molecular Therapeutics for Parkinson's Disease: A Role for Antisense Oligonucleotides?
Mov Disord
; 37(11): 2184-2190, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036206
9.
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.
Ann Neurol
; 88(3): 641-642, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32542757
10.
RFC1-related ataxia is a mimic of early multiple system atrophy.
J Neurol Neurosurg Psychiatry
; 2021 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33563805
11.
GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.
Brain
; 143(7): e57, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516806
12.
The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.
Brain
; 143(4): e25, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154839
13.
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
Mov Disord
; 35(10): 1890-1891, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33068477
14.
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.
Mov Disord
; 35(7): 1277-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333430
15.
PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report.
Parkinsonism Relat Disord
; 124: 106976, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718479
16.
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.
Ann Clin Transl Neurol
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38700104
17.
Spinocerebellar ataxia: an update.
J Neurol
; 266(2): 533-544, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30284037
18.
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nat Genet
; 51(5): 920, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028356
19.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nat Genet
; 51(4): 649-658, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30926972
20.
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Acta Neuropathol Commun
; 12(1): 2, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167323