Detalhe da pesquisa
1.
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.
Cerebellum
; 23(1): 121-135, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36640220
2.
Machado Joseph-Disease Is Rare in the Peruvian Population.
Cerebellum
; 22(6): 1192-1199, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36323979
3.
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
Cerebellum
; 2023 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37117990
4.
CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.
Ann Neurol
; 89(1): 66-73, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32978817
5.
Population-specific genetic modification of Huntington's disease in Venezuela.
PLoS Genet
; 14(5): e1007274, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750799
6.
ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.
Cerebellum
; 18(5): 841-848, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31342269
7.
Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7.
Cerebellum
; 18(3): 388-396, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30637674
8.
Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-L-cysteine, Trolox, and Rosuvastatin.
Cell Mol Neurobiol
; 38(8): 1505-1516, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30302628
9.
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.
Mov Disord
; 37(8): 1773-1774, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507441
10.
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes.
Cerebellum
; 16(1): 253-256, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26754264
11.
Concerning to Schirinzi et al., Natural history of a cohort of ABCD1 variant female carriers.
Eur J Neurol
; 26(8): e76, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31074103
12.
Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Cortex
; 171: 370-382, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091940
13.
Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.
Biochim Biophys Acta
; 1822(2): 226-32, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22085605
14.
The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy.
Mol Genet Metab
; 106(2): 231-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22525090
15.
Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).
Cerebellum
; 11(4): 1045-50, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422287
16.
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
J Inherit Metab Dis
; 33 Suppl 3: S257-62, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20596894
17.
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.
Aging (Albany NY)
; 12(6): 4742-4756, 2020 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32205469
18.
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
Eur J Hum Genet
; 16(7): 841-7, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285829
19.
Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy.
J Neurol Sci
; 266(1-2): 79-83, 2008 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17915255
20.
Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.
Am J Med Genet B Neuropsychiatr Genet
; 147B(4): 439-46, 2008 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17948873