Detalhe da pesquisa
1.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32808683
2.
The clinical spectrum of laryngeal dystonia includes dystonic cough: observations of a large series.
Mov Disord
; 29(6): 729-35, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24753288
3.
Botulinum toxin A in functional popliteal entrapment syndrome: a new approach to a difficult diagnosis.
J Neural Transm (Vienna)
; 121(10): 1297-301, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24663496
4.
Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Parkinsonism Relat Disord
; 124: 107010, 2024 May 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38772265
5.
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Mol Genet Genomic Med
; 10(5): e1923, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35293157
6.
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Parkinsonism Relat Disord
; 69: 111-118, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31731261
7.
Mild parkinsonian features in dystonia: Literature review, mechanisms and clinical perspectives.
Parkinsonism Relat Disord
; 35: 1-7, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27825543
8.
Relationship Between Laryngeal Electromyography and Video Laryngostroboscopy in Vocal Fold Paralysis.
J Voice
; 31(5): 638-642, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28320626