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
em Inglês
| MEDLINE | ID: mdl-29474918
2.
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.
Mov Disord
; 36(1): 206-215, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32975318
3.
Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism.
J Neural Transm (Vienna)
; 128(4): 575-587, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439365
4.
Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex.
Neurobiol Dis
; 144: 105032, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32739252
5.
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
em Inglês
| MEDLINE | ID: mdl-29229810
6.
Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data.
Sci Rep
; 14(1): 13229, 2024 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38853162
7.
Oral diadochokinetic markers of X-linked dystonia-parkinsonism.
Parkinsonism Relat Disord
; 120: 105991, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184995
8.
Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism.
J Voice
; 37(1): 134-138, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33334627
9.
Establishing a natural history of X-linked dystonia parkinsonism.
Brain Commun
; 5(3): fcad106, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37265597
10.
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
em Inglês
| MEDLINE | ID: mdl-35395816
11.
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Nat Commun
; 12(1): 3216, 2021 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050153
12.
Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism.
Mov Disord Clin Pract
; 7(4): 448-452, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32373662
13.
Voice and swallowing dysfunction in X-linked dystonia parkinsonism.
Laryngoscope
; 130(1): 171-177, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30889292
14.
Isolated Cervical Dystonia: Management and Barriers to Care.
Front Neurol
; 11: 591418, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33329340
15.
SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.
PLoS One
; 15(12): e0243655, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315879
16.
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
em Inglês
| MEDLINE | ID: mdl-35468867
17.
Recurrence and outcomes of Stevens-Johnson syndrome and toxic epidermal necrolysis in children.
Pediatrics
; 128(4): 723-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890829