Detalhe da pesquisa
1.
Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
Brain
; 146(4): 1523-1541, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36204995
2.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588
3.
Longitudinal analysis of the relationship between motor and psychiatric symptoms in idiopathic dystonia.
Eur J Neurol
; 29(12): 3513-3527, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997000
4.
Adult-onset idiopathic dystonia: A national data-linkage study to determine epidemiological, social deprivation, and mortality characteristics.
Eur J Neurol
; 29(1): 91-104, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34543508
5.
Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings.
Eur J Neurol
; 29(11): 3418-3448, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35785410
6.
Cognitive and Neuropsychiatric Impairment in Dystonia.
Curr Neurol Neurosci Rep
; 22(11): 699-708, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36201146
7.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
8.
Sleep disturbance in movement disorders: insights, treatments and challenges.
J Neurol Neurosurg Psychiatry
; 92(7): 723-736, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33741740
9.
A post hoc study on gene panel analysis for the diagnosis of dystonia.
Mov Disord
; 32(4): 569-575, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28186668
10.
Movement Disorder Phenotypes in Children With 22q11.2 Deletion Syndrome.
Mov Disord
; 35(7): 1272-1274, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32379361
11.
Natural Course of Myoclonus-Dystonia in Adulthood: Stable Motor Signs But Increased Psychiatry.
Mov Disord
; 35(6): 1077-1078, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32212347
12.
Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.
Mov Disord
; 34(3): 317-320, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30726575
13.
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
Brain
; 136(Pt 1): 294-303, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23365103
14.
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
Dev Med Child Neurol
; 56(7): 642-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24171694
15.
Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes.
Nat Rev Neurol
; 20(1): 7-21, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38001363
16.
Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: a UK linkage-based study.
J Neurol
; 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38512523
17.
Pearls & Oy-sters: AARS2 Leukodystrophy-Tremor and Tribulations.
Neurology
; 102(8): e209296, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38507676
18.
Macro- and micro-structural insights into primary dystonia: a UK Biobank study.
J Neurol
; 271(3): 1416-1427, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995010
19.
Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis.
Nat Med
; 29(8): 2048-2056, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37400639
20.
Accelerometer-derived sleep measures in idiopathic dystonia: A UK Biobank cohort study.
Brain Behav
; 13(9): e2933, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37547976