Detalhe da pesquisa
1.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301203
2.
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Genet Med
; 26(6): 101105, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430071
3.
Prevalence and burden of pain across the entire spectrum of Huntington's disease.
J Neurol Neurosurg Psychiatry
; 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290837
4.
Study protocol for the Heads-Up trial: a phase II randomized controlled trial investigating head-up tilt sleeping to alleviate orthostatic intolerance in Parkinson's Disease and parkinsonism.
BMC Neurol
; 24(1): 4, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38166676
5.
Juvenile-Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review.
Mov Disord
; 37(1): 16-24, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34636452
6.
Post-mortem 7T MR imaging and neuropathology in middle stage juvenile-onset Huntington disease: A case report.
Neuropathol Appl Neurobiol
; 49(1): e12858, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36334065
7.
More than a co-incidence? Comment on: Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.
Acta Neuropathol
; 145(2): 257-258, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36335527
8.
StartReact restores reaction time in HSP: evidence for subcortical release of a motor program.
J Neurosci
; 34(1): 275-81, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381288
9.
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Am J Hum Genet
; 91(6): 1073-81, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176823
10.
De novo SPAST mutations may cause a complex SPG4 phenotype.
Brain
; 142(7): e31, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31157359
11.
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Brain
; 135(Pt 10): 2994-3004, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22964162
12.
Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington's disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics.
Ther Adv Rare Dis
; 4: 26330040231204643, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37955016
13.
Quality of life, health-related quality of life, and associated factors in Huntington's disease: a systematic review.
J Neurol
; 270(5): 2416-2437, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36715747
14.
Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction.
Orphanet J Rare Dis
; 18(1): 218, 2023 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37501188
15.
GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study.
EBioMedicine
; 97: 104849, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37898095
16.
The Many Faces of Huntington's Chorea Treatment: The Impact of Sudden Withdrawal of Tiapride after 40 Years of Use and a Systematic Review.
J Pers Med
; 12(4)2022 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35455705
17.
Huntington's disease influences employment before and during clinical manifestation: A systematic review.
Parkinsonism Relat Disord
; 96: 100-108, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379551
18.
The prevalence of pain in Huntington's disease in a large worldwide cohort.
Parkinsonism Relat Disord
; 89: 73-78, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34243026
19.
Predictors of Working Capacity Changes Related to Huntington's Disease: A Longitudinal Study.
J Huntingtons Dis
; 10(2): 269-276, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33523014
20.
Study Protocol for the Development of a European eHealth Platform to Improve Quality of Life in Individuals With Huntington's Disease and Their Partners (HD-eHelp Study): A User-Centered Design Approach.
Front Neurol
; 12: 719460, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34589047