Detalhe da pesquisa
1.
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.
Mov Disord
; 37(5): 905-935, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35481685
2.
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
3.
MDSGene: Extending the List of Isolated Dystonia Genes by VPS16, EIF2AK2, and AOPEP.
Mov Disord
; 38(3): 507-508, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670070
4.
Genetics and Pathogenesis of Dystonia.
Annu Rev Pathol
; 19: 99-131, 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37738511
5.
Understanding monogenic Parkinson's disease at a global scale.
medRxiv
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529492
6.
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
NPJ Parkinsons Dis
; 9(1): 100, 2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369645
7.
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.
Mov Disord
; 32(10): 1495-1497, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28921672
8.
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
NPJ Parkinsons Dis
; 9(1): 133, 2023 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704671
9.
Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
Mov Disord Clin Pract
; 9(8): 1116-1119, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36339300