Detalhe da pesquisa
1.
Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy.
Ann Neurol
; 94(5): 812-824, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606181
2.
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
Neurogenetics
; 20(1): 9-25, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607703
3.
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PLoS Genet
; 12(1): e1005679, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26741492
4.
NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
Brain
; 143(7): e54, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32462209
5.
Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene.
Mitochondrion
; 76: 101858, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38437941
6.
Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.
Genes (Basel)
; 11(11)2020 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33182419