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.
Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.
Neuropathology
; 33(1): 59-67, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22537151
4.
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
J Neurol Neurosurg Psychiatry
; 83(2): 174-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036850
5.
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
6.
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.
J Inherit Metab Dis
; 34(1): 197-201, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21153446
7.
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
8.
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
Ophthalmology
; 117(8): 1538-46, 1546.e1, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20417570
9.
Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy.
Muscle Nerve
; 47(2): 308-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23349087
10.
Respiratory chain deficiency in nonmitochondrial disease.
Neurol Genet
; 1(1): e6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066545
11.
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.
JIMD Rep
; 10: 17-22, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430795
12.
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
Mitochondrion
; 11(1): 182-90, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20883824
13.
Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.
Neuromuscul Disord
; 21(11): 803-8, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21763135
14.
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
J Neurol
; 258(11): 1987-97, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21544567
15.
Clinical and neuropathological findings in patients with TACO1 mutations.
Neuromuscul Disord
; 20(11): 720-4, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20727754
16.
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
J Neurol
; 257(9): 1517-23, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20405137
17.
Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.
J Neurol
; 256(5): 810-5, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19252805
18.
ESC, ESCL and their roles in Polycomb Group mechanisms.
Mech Dev
; 125(5-6): 527-41, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18276122
19.
OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy.
Neurology
; 79(14): 1515-7, 2012 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22993284
20.
The sounds of silence--histone deacetylation meets histone methylation.
Genetica
; 117(2-3): 159-64, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12723695