Detalhe da pesquisa
1.
LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.
Biochim Biophys Acta
; 1817(2): 312-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22079202
2.
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.
JIMD Rep
; 23: 91-100, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25940035
3.
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
J Clin Invest
; 120(3): 791-802, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179356
4.
Digenic mutations in severe myoclonic epilepsy of infancy.
Epilepsy Res
; 85(2-3): 300-4, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19359143