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.
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
J Biol Chem
; 299(1): 102758, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462665
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.
Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations.
J Biol Chem
; 296: 100019, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144327
5.
Differences in Sex-Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism.
Mov Disord
; 37(11): 2217-2225, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054306
6.
Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation.
Neurobiol Dis
; 148: 105223, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33316367
7.
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Mov Disord
; 36(5): 1086-1103, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502045
8.
Isolated dystonia: clinical and genetic updates.
J Neural Transm (Vienna)
; 128(4): 405-416, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247415
9.
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
10.
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
PLoS Genet
; 14(1): e1007169, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29364887
11.
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
12.
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
Ann Neurol
; 85(6): 812-822, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30973967
13.
Expanding Data Collection for the MDSGene Database: X-linked Dystonia-Parkinsonism as Use Case Example.
Mov Disord
; 35(11): 1933-1938, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949450
14.
Cervical dystonia incidence and diagnostic delay in a multiethnic population.
Mov Disord
; 35(3): 450-456, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31774238
15.
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
16.
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Neurobiol Dis
; 132: 104577, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31425744
17.
X-Linked Dystonia-Parkinsonism: recent advances.
Curr Opin Neurol
; 32(4): 604-609, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116117
18.
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
Mov Disord
; 34(10): 1528-1536, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361359
19.
Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity.
Cereb Cortex
; 28(1): 158-166, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29117296
20.
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.
Hum Genet
; 137(4): 343-355, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29705978