Detalhe da pesquisa
1.
Genetic diagnosis of basal ganglia disease in childhood.
Dev Med Child Neurol
; 64(6): 743-752, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988976
2.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
3.
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Mol Genet Metab
; 126(3): 250-258, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30642748
4.
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
J Inherit Metab Dis
; 42(4): 581-597, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31095747
5.
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.
Mov Disord
; 36(4): 1038-1040, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606314
6.
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Ann Clin Transl Neurol
; 10(10): 1937-1943, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491839
7.
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Parkinsonism Relat Disord
; 80: 165-174, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022436