Detalhe da pesquisa
1.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Ann Neurol
; 88(1): 18-32, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219868
2.
Myoclonus in mitochondrial disorders.
Mov Disord
; 29(6): 722-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24510442
3.
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations.
Ann Clin Transl Neurol
; 8(6): 1200-1211, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33951347
4.
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
Ophthalmology
; 117(8): 1547-53, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20417568
5.
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
Cephalalgia
; 30(8): 919-27, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20656703
6.
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.
Biochim Biophys Acta
; 1767(7): 913-9, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17568559
7.
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
J Neurol
; 270(1): 559-564, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066624
8.
Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach.
J Mol Diagn
; 9(4): 538-45, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17652639
9.
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?
Environ Health Perspect
; 115(1): 113-5, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17366829
10.
Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
Gene
; 354: 152-6, 2005 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-15975738
11.
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.
PLoS One
; 9(5): e96663, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24805791
12.
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.
Ophthalmic Genet
; 29(1): 17-24, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18363168
13.
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy.
J Biol Chem
; 281(32): 22720-8, 2006 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-16774911
14.
X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients.
Am J Med Genet A
; 119A(1): 37-40, 2003 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12707956