Detalhe da pesquisa
1.
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Am J Med Genet A
; 185(1): 157-167, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33112498
2.
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Mol Genet Metab
; 126(1): 53-63, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30473481
3.
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
Mol Genet Metab
; 119(1-2): 91-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27448789
4.
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.
Mol Genet Metab Rep
; 38: 101025, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38125072
5.
Mitochondrial and ion channel gene alterations in autism.
Biochim Biophys Acta
; 1817(10): 1796-802, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22538295
6.
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Nat Commun
; 13(1): 705, 2022 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121750
7.
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
Mitochondrion
; 34: 84-90, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28216230