Detalhe da pesquisa
1.
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
Hum Mol Genet
; 21(1): 85-100, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21945886
2.
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.
J Inherit Metab Dis
; 35(3): 451-8, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22020834
3.
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.
Brain
; 134(Pt 1): 220-34, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20943885
4.
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.
EMBO Mol Med
; 6(2): 169-82, 2014 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24413190
5.
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.
Hum Pathol
; 44(7): 1262-70, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332932
6.
Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.
Arch Neurol
; 67(9): 1144-6, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20837862