Detalhe da pesquisa
1.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Am J Hum Genet
; 99(1): 217-27, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374774
2.
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.
PLoS Genet
; 10(6): e1004424, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24901367
3.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Am J Hum Genet
; 93(3): 471-81, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993193
4.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Brain
; 138(Pt 12): 3503-19, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26510951
5.
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
6.
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.
Hum Mutat
; 34(9): 1260-8, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696415
7.
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Hum Mutat
; 34(11): 1501-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23929671
8.
Toward a mtDNA locus-specific mutation database using the LOVD platform.
Hum Mutat
; 33(9): 1352-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581690
9.
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.
Hum Mutat
; 32(11): 1319-25, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21882289
10.
The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.
J Neurol Sci
; 325(1-2): 165-9, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273904
11.
Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects.
J Hematol Oncol
; 6: 24, 2013 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-23547827
12.
Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.
J Neuropathol Exp Neurol
; 72(2): 164-75, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23334599
13.
A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.
Mitochondrion
; 12(5): 533-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22781547
14.
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
15.
Mitochondrial tRNA mutations and disease.
Wiley Interdiscip Rev RNA
; 1(2): 304-24, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21935892