Detalhe da pesquisa
1.
Plasma biomarker profiles in autosomal dominant Alzheimer's disease.
Brain
; 146(3): 1132-1140, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36626935
2.
APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal-dominant Alzheimer's disease.
Eur J Neurol
; 29(12): 3580-3589, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36039401
3.
Ataxin-2 gene: a powerful modulator of neurological disorders.
Curr Opin Neurol
; 34(4): 578-588, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010218
4.
A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS.
Mov Disord
; 36(2): 508-514, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058338
5.
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.
Cerebellum
; 17(4): 465-476, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29527639
6.
Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges.
Mov Disord
; 32(5): 708-718, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28256108
7.
Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease.
Cerebellum
; 13(5): 568-79, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906824
8.
Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: evidence from antisaccadic eye movements.
Brain Cogn
; 91: 28-34, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25189938
9.
Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis.
J Genet Couns
; 23(1): 89-96, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813298
10.
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.
J Neurol Sci
; 451: 120707, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37379724
11.
Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.
Hum Genet
; 131(4): 625-38, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22037902
12.
TBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers.
J Neurol
; 269(6): 3037-3049, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800171
13.
Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers.
Mov Disord
; 26(2): 347-50, 2011 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20960485
14.
A comprehensive review of spinocerebellar ataxia type 2 in Cuba.
Cerebellum
; 10(2): 184-98, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21399888
15.
Oral zinc sulphate supplementation for six months in SCA2 patients: a randomized, double-blind, placebo-controlled trial.
Neurochem Res
; 36(10): 1793-800, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21562746
16.
Sleep disorders in spinocerebellar ataxia type 2 patients.
Neurodegener Dis
; 8(6): 447-54, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21494015
17.
Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia.
Acta Neuropathol Commun
; 9(1): 132, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34344473
18.
Plasma metabolomics of presymptomatic PSEN1-H163Y mutation carriers: a pilot study.
Ann Clin Transl Neurol
; 8(3): 579-591, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33476461
19.
Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin.
Neurosci Lett
; 454(2): 157-60, 2009 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-19429075
20.
Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2.
J Neurol Sci
; 263(1-2): 158-64, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17706249