Detalhe da pesquisa
1.
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
JAMA
; 312(1): 68-77, 2014 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25058219
2.
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Brain
; 135(Pt 12): 3614-26, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23250882
3.
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Mov Disord
; 27(6): 789-93, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22508347
4.
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Brain
; 134(Pt 1): 183-95, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21169334
5.
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Mitochondrion
; 13(6): 743-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23499752