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.
The dystonia gene THAP1 controls DNA double-strand break repair choice.
Mol Cell
; 81(12): 2611-2624.e10, 2021 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33857404
3.
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Am J Hum Genet
; 108(11): 2145-2158, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34672987
4.
Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.
Semin Neurol
; 43(1): 17-34, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36972613
5.
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
Am J Med Genet A
; 188(9): 2590-2598, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35775650
6.
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
7.
Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.
Neurobiol Dis
; 146: 105135, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33049316
8.
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
9.
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
10.
X-Linked Dystonia-Parkinsonism: recent advances.
Curr Opin Neurol
; 32(4): 604-609, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116117
11.
Recurrent flare-associated urticaria in adenosine deaminase type 2 deficiency.
Rheumatology (Oxford)
; 63(2): e75-e76, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37624921
12.
Editorial: Current opinions in neurology editorial.
Curr Opin Neurol
; 36(4): 291, 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462046
13.
Functional neurological disorders in Parkinson disease.
J Neurol Neurosurg Psychiatry
; 89(6): 566-571, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29549192
14.
X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.
Neurobiol Dis
; 100: 108-118, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017799
15.
Translational effects and coding potential of an upstream open reading frame associated with DOPA Responsive Dystonia.
Biochim Biophys Acta Mol Basis Dis
; 1863(6): 1171-1182, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28366877
16.
Synthesis, spectral and extended spectrum beta-lactamase studies of transition metal tetraaza macrocyclic complexes.
J Biol Inorg Chem
; 22(4): 535-543, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28101682
17.
Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.
J Biol Chem
; 290(37): 22543-57, 2015 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231208
18.
Point-of-care ultrasonography of the orbit for detection of retinal detachment in a patient with hemolysis, elevated liver enzymes, and low platelet count syndrome.
Indian J Crit Care Med
; 20(9): 545-7, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27688632
19.
Editorial: Advances in rare movement disorders.
Curr Opin Neurol
; 33(4): 498-499, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32657891
20.
Update on treatments for dystonia.
Curr Neurol Neurosci Rep
; 14(6): 454, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24744022