Detalhe da pesquisa
1.
Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome.
J Biol Chem
; 298(10): 102420, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36030054
2.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
3.
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Mol Genet Metab
; 131(1-2): 66-82, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980267
4.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272928
5.
A novel WFS1 variant associated with isolated congenital cataracts.
Cold Spring Harb Mol Case Stud
; 9(1)2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36781206
6.
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
J Neurol
; 269(4): 2162-2171, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34537872
7.
Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.
Pan Afr Med J
; 38: 111, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33912281
8.
Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid.
Child Neurol Open
; 7: 2329048X20967880, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150193
9.
Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.
Mol Genet Metab Rep
; 24: 100616, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32577402
10.
AIMP1 Mutation Long-Term Follow-Up, With Decreased Brain N-Acetylaspartic Acid and Secondary Mitochondrial Abnormalities.
Child Neurol Open
; 6: 2329048X19829520, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30828585