Detalhe da pesquisa
1.
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Cell
; 172(5): 897-909.e21, 2018 02 22.
Artigo
Inglês
| MEDLINE | ID: mdl-29474918
2.
The dystonia gene THAP1 controls DNA double-strand break repair choice.
Mol Cell
; 81(12): 2611-2624.e10, 2021 06 17.
Artigo
Inglês
| MEDLINE | ID: mdl-33857404
3.
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.
Mov Disord
; 36(1): 206-215, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32975318
4.
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.
Proc Natl Acad Sci U S A
; 114(51): E11020-E11028, 2017 12 19.
Artigo
Inglês
| MEDLINE | ID: mdl-29229810
5.
Sustained activation in basal ganglia and cerebellum after repetitive movement in a non-task-specific dystonia.
bioRxiv
; 2023 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-36993354
6.
Establishing a natural history of X-linked dystonia parkinsonism.
Brain Commun
; 5(3): fcad106, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37265597
7.
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Acta Neuropathol Commun
; 10(1): 49, 2022 04 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35395816
8.
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Nat Commun
; 12(1): 3216, 2021 05 28.
Artigo
Inglês
| MEDLINE | ID: mdl-34050153
9.
Isolated Cervical Dystonia: Management and Barriers to Care.
Front Neurol
; 11: 591418, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33329340
10.
White Matter Changes in Cervical Dystonia Relate to Clinical Effectiveness of Botulinum Toxin Treatment.
Front Neurol
; 10: 265, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31019484
11.
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Mov Disord
; 23(4): 588-92, 2008 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18175340
12.
Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Acta Neuropathol Commun
; 10(1): 62, 2022 Apr 25.
Artigo
Inglês
| MEDLINE | ID: mdl-35468867
13.
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
Mov Disord
; 26(11): 2140-1, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21674621
14.
Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.
PLoS One
; 11(5): e0155302, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27171035
15.
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
Otolaryngol Head Neck Surg
; 155(4): 624-8, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27188707
16.
Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.
Dis Model Mech
; 9(4): 451-62, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26769797
17.
Pallidal deep brain stimulation for dystonia: a case series.
J Neurosurg Pediatr
; 12(6): 582-7, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24093589
18.
Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.
PLoS One
; 8(10): e76975, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24124602
19.
Evidence for altered basal ganglia-brainstem connections in cervical dystonia.
PLoS One
; 7(2): e31654, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22384048
20.
Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status.
Genet Med
; 9(2): 101-7, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-17304051