Detalhe da pesquisa
1.
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Am J Hum Genet
; 97(1): 186-93, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26094573
2.
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Nat Genet
; 38(5): 570-5, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16582910
3.
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Mol Genet Metab
; 107(3): 403-8, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23010432
4.
Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Biochim Biophys Acta
; 1787(5): 491-501, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18977334
5.
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
Hum Mol Genet
; 17(21): 3291-302, 2008 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18678599
6.
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.
Neuromuscul Disord
; 18(6): 460-4, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18502641
7.
Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants.
Brain
; 130(Pt 10): 2715-24, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17626036
8.
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
Brain
; 130(Pt 7): 1894-904, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17535832
9.
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.
Mol Genet Metab Rep
; 10: 24-27, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28070494
10.
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Brain
; 128(Pt 4): 723-31, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15689359
11.
Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.
J Child Neurol
; 21(1): 79-82, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16551460
12.
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
JIMD Rep
; 20: 95-101, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25638461
13.
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.
Neuromuscul Disord
; 14(12): 815-7, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15564038
14.
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene.
Neuromuscul Disord
; 14(11): 723-6, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15482956
15.
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.
Neuromuscul Disord
; 12(1): 49-52, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11731284
16.
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?
J Neurol
; 260(6): 1617-23, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23358625
17.
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.
Neuromuscul Disord
; 22(11): 990-4, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22832341
18.
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Hum Mol Genet
; 16(10): 1241-52, 2007 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17403714
19.
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
Am J Hum Genet
; 78(4): 564-74, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16532388
20.
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
Mol Genet Metab
; 84(1): 75-82, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15639197