Detalhe da pesquisa
1.
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Nucleic Acids Res
; 47(14): 7430-7443, 2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147703
2.
Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.
PLoS Genet
; 10(9): e1004620, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232829
3.
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.
Clin Sci (Lond)
; 128(12): 895-904, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25626417
4.
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
5.
Single Cell Analysis of Mitochondrial DNA Deletions.
Methods Mol Biol
; 2615: 443-463, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807808
6.
Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1.
J Neuromuscul Dis
; 10(6): 1111-1126, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638448
7.
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
8.
Mitochondrial DNA mutations and human disease.
Biochim Biophys Acta
; 1797(2): 113-28, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19761752
9.
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Brain
; 133(10): 2952-63, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20819849
10.
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.
Mol Genet Metab
; 100(4): 345-8, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20472482
11.
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain
; 132(Pt 11): 3165-74, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19720722
12.
Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.
Sci Rep
; 5: 9906, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25989140
13.
A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.
Neuromuscul Disord
; 25(3): 262-7, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497401
14.
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
Eur J Hum Genet
; 23(12): 1735-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873012
15.
Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.
PLoS One
; 9(12): e114462, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25474153
16.
Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations.
Sci Rep
; 4: 3844, 2014 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24457623
17.
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
Eur J Hum Genet
; 20(8): 897-904, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22378285