Detalhe da pesquisa
1.
Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.
J Transl Med
; 22(1): 495, 2024 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38796496
2.
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Brain
; 146(2): 455-460, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317462
3.
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.
Hum Mol Genet
; 30(1): 21-29, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33437983
4.
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Hum Mutat
; 43(2): 128-142, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837429
5.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Genet Med
; 23(9): 1769-1778, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040194
6.
A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Retina
; 41(8): 1771-1779, 2021 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315831
7.
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Mol Biol Rep
; 47(5): 3779-3787, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319008
8.
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Hum Mutat
; 40(12): 2430-2443, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31379041
9.
Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study.
J Proteome Res
; 18(3): 1307-1315, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30701980
10.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 695-703, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545681
11.
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Genet Med
; 21(6): 1407-1416, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30393377
12.
Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers.
J Neuroophthalmol
; 39(1): 18-22, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29979334
13.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Am J Hum Genet
; 97(5): 754-60, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593267
14.
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Brain
; 140(10): 2586-2596, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969390
15.
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.
J Med Genet
; 54(5): 346-356, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28031252
16.
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
J Cell Mol Med
; 21(10): 2284-2297, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28378518
17.
The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 284-291, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27815040
18.
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
Brain
; 139(11): 2864-2876, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633772
19.
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Neurobiol Dis
; 90: 20-6, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26311407
20.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Brain
; 138(Pt 2): 284-92, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527826