Detalhe da pesquisa
1.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mov Disord
; 39(3): 526-538, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214203
2.
Quality of life in isolated dystonia: non-motor manifestations matter.
J Neurol Neurosurg Psychiatry
; 2021 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33563813
3.
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Mov Disord
; 36(5): 1086-1103, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502045
4.
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.
J Neurol Neurosurg Psychiatry
; 91(3): 314-320, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31848221
5.
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.
Cerebellum
; 18(4): 817-822, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31111429
6.
Psychiatric associations of adult-onset focal dystonia phenotypes.
J Neurol Neurosurg Psychiatry
; 88(7): 595-602, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28438790
7.
Longitudinal predictors of health-related quality of life in isolated dystonia.
J Neurol
; 271(2): 852-863, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37839041
8.
Understanding monogenic Parkinson's disease at a global scale.
medRxiv
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529492
9.
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
NPJ Parkinsons Dis
; 9(1): 100, 2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369645
10.
Characterizing the temporal discrimination threshold in musician's dystonia.
Sci Rep
; 12(1): 14939, 2022 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056047
11.
Motor learning deficits in cervical dystonia point to defective basal ganglia circuitry.
Sci Rep
; 11(1): 7332, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795752
12.
Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort.
Neurology
; 96(4): e563-e574, 2021 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046615
13.
Temporal discrimination threshold and blink reflex recovery cycle in cervical dystonia - two sides of the same coin?
Parkinsonism Relat Disord
; 68: 4-7, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31621616
14.
Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
Parkinsonism Relat Disord
; 62: 196-200, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712998
15.
Predictors of alcohol responsiveness in dystonia.
Neurology
; 91(21): e2020-e2026, 2018 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30341158
16.
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
NPJ Parkinsons Dis
; 9(1): 133, 2023 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704671
17.
Clinical and genetic features of cervical dystonia in a large multicenter cohort.
Neurol Genet
; 2(3): e69, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27123488