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.
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
4.
Achieving Expert-Level Interpretation of Serum Protein Electrophoresis through Deep Learning Driven by Human Reasoning.
Clin Chem
; 67(10): 1406-1414, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491313
5.
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
6.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Am J Hum Genet
; 95(6): 637-48, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25466283
7.
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
8.
Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?
J Neuroophthalmol
; 42(2): 149-153, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34629404
9.
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
10.
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
Hum Mutat
; 36(1): 20-5, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25243597
11.
Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells.
J Biol Chem
; 288(51): 36662-75, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24178296
12.
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
J Med Genet
; 50(10): 704-14, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23847141
13.
Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?
J Assist Reprod Genet
; 31(2): 221-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24242990
14.
Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation.
Nat Commun
; 14(1): 12, 2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36596811
15.
Post-infarct cardiac remodeling predictions with machine learning.
Int J Cardiol
; 355: 1-4, 2022 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151718
16.
A Tear Metabolomic Profile Showing Increased Ornithine Decarboxylase Activity and Spermine Synthesis in Thyroid-Associated Orbitopathy.
J Clin Med
; 11(2)2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35054098
17.
Deep learning shows no morphological abnormalities in neutrophils in Alzheimer's disease.
Alzheimers Dement (Amst)
; 13(1): e12146, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33665339
18.
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Sci Data
; 8(1): 205, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34354088
19.
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Brain Commun
; 3(2): fcab063, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056600
20.
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.
Neurogenetics
; 11(1): 127-33, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19618221