Detalhe da pesquisa
1.
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.
Mov Disord
; 37(9): 1850-1860, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808813
2.
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Pediatr Neurol
; 157: 5-13, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38833907
3.
Lower urinary tract and bowel dysfunction in spinocerebellar ataxias.
Ann Clin Transl Neurol
; 8(2): 321-331, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33338328
4.
PRKRAP1 Pseudogene Complicating the Diagnosis of Young-Onset Dystonia Due to PRKRA Gene Disease-Causing Variants (DYT-PRKRA).
Mov Disord Clin Pract
; 9(5): 703-706, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35844287