Detalhe da pesquisa
1.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord
; 37(1): 137-147, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34596301
2.
Recent advances in molecular therapies for neurological disease: triplet repeat disorders.
Hum Mol Genet
; 28(R1): R80-R87, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31227833
3.
Striatal Cholinergic Dysregulation after Neonatal Decrease in X-Linked Dystonia Parkinsonism-Related TAF1 Isoforms.
Mov Disord
; 36(12): 2780-2794, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34403156
4.
Striatal Dopamine Induced ERK Phosphorylation Is Altered in Mouse Models of Monogenic Dystonia.
Mov Disord
; 36(5): 1147-1157, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33458877
5.
α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease.
Mov Disord
; 36(10): 2346-2357, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34076298
6.
Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.
Am J Med Genet A
; 185(10): 2922-2928, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34075706
7.
Transitioning to telegenetics in the COVID-19 era: Patient satisfaction with remote genetic counseling in adult neurology.
J Genet Couns
; 30(4): 974-983, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34265143
8.
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
PLoS Genet
; 14(1): e1007169, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29364887
9.
Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.
Int J Mol Sci
; 22(15)2021 Jul 31.
Artigo
Inglês
| MEDLINE | ID: mdl-34361012
10.
Contrast Acuity and the King-Devick Test in Huntington's Disease.
Neuroophthalmology
; 44(4): 219-225, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33012907
11.
Advances in molecular and cell biology of dystonia: Focus on torsinA.
Neurobiol Dis
; 127: 233-241, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30877032
12.
Genetic test utilization and diagnostic yield in adult patients with neurological disorders.
Neurogenetics
; 19(2): 105-110, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29589152
13.
Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1 Knock-in Mice Implicates Novel Pathways in Dystonia Pathogenesis.
J Neurosci
; 36(40): 10245-10256, 2016 10 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27707963
14.
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Hum Mol Genet
; 24(25): 7159-70, 2015 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-26376866
15.
Sex-specific effects of the Huntington gene on normal neurodevelopment.
J Neurosci Res
; 95(1-2): 398-408, 2017 01 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27870408
16.
RNAi prevents and reverses phenotypes induced by mutant human ataxin-1.
Ann Neurol
; 80(5): 754-765, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27686464
17.
PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.
Ann Neurol
; 89(1): 194-195, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33098144
18.
Diabetes Mellitus Is Associated With an Earlier Age of Onset of Huntington's Disease.
Mov Disord
; 36(4): 1033-1034, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33368647
19.
A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants.
Mov Disord
; 36(2): 520-521, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33211350
20.
Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy.
Brain
; 138(Pt 12): 3555-66, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26490326