Detalhe da pesquisa
1.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588
2.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Clin Chem
; 67(8): 1113-1121, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352085
3.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043567
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.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
J Inherit Metab Dis
; 41(6): 1147-1158, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974349
6.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Brain Pathol
; 33(3): e13134, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450274
7.
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.
Sci Rep
; 10(1): 18291, 2020 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106568
8.
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.
Front Genet
; 10: 1300, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31969900
9.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
J Clin Med
; 8(1)2019 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30634555