Detalhe da pesquisa
1.
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
Int J Mol Sci
; 24(24)2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38139324
2.
Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation.
Metab Brain Dis
; 35(8): 1317-1327, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32740724
3.
Successful perioperative prophylaxis with susoctocog alfa in a patient with acquired haemophilia A: A case study.
Haemophilia
; 28(2): e39-e41, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34878208
4.
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
Exp Eye Res
; 145: 93-99, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593885
5.
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Cell Rep Med
; 5(3): 101437, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428428
6.
Testosterone increases apoptotic cell death and decreases mitophagy in Leber's hereditary optic neuropathy cells.
J Appl Genet
; 61(2): 195-203, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157656
7.
Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.
Gene
; 555(1): 41-9, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25261848
8.
Multi-procedure management in an eyeglasses-related open globe injury.
Wideochir Inne Tech Maloinwazyjne
; 9(1): 101-6, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24729818