Detalhe da pesquisa
1.
OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion.
Proc Natl Acad Sci U S A
; 120(12): e2207471120, 2023 03 21.
Artigo
Inglês
| MEDLINE | ID: mdl-36927155
2.
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
Hum Mol Genet
; 31(20): 3478-3493, 2022 10 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35652445
3.
Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2.
Mov Disord
; 39(1): 203-209, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38037516
4.
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.
Brain
; 146(4): 1328-1341, 2023 04 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36350566
5.
Immunobiology of a rationally-designed AAV2 capsid following intravitreal delivery in mice.
Gene Ther
; 30(9): 723-735, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37386155
6.
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs.
N Engl J Med
; 382(18): 1687-1695, 2020 04 30.
Artigo
Inglês
| MEDLINE | ID: mdl-32286748
7.
The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population.
Doc Ophthalmol
; 147(3): 165-177, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37889400
8.
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
J Med Genet
; 59(1): 65-74, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34006618
9.
Characterization of Retinal Architecture in Spinocerebellar Ataxia Type 3 and Correlation with Disease Severity.
Mov Disord
; 37(4): 758-766, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34936137
10.
Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report.
BMC Neurol
; 22(1): 257, 2022 Jul 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35820885
11.
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Curr Neurol Neurosci Rep
; 22(12): 881-892, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36414808
12.
Capturing the experiences of patients with inherited optic neuropathies: a systematic review of patient-reported outcome measures (PROMs) and qualitative studies.
Graefes Arch Clin Exp Ophthalmol
; 260(6): 2045-2055, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35024911
13.
Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.
J Neuroophthalmol
; 42(1): 35-44, 2022 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34629400
14.
The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study.
J Neuroophthalmol
; 42(3): 316-322, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35483081
15.
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Ophthalmology
; 128(5): 649-660, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33451738
16.
Quantifying inter-organelle membrane contact sites using proximity ligation assay in fixed optic nerve sections.
Exp Eye Res
; 213: 108793, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34656549
17.
Leber hereditary optic neuropathy-new insights and old challenges.
Graefes Arch Clin Exp Ophthalmol
; 259(9): 2461-2472, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-33185731
18.
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.
J Neuroophthalmol
; 41(3): 309-315, 2021 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34415265
19.
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies.
J Neuroophthalmol
; 41(3): 298-308, 2021 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34310464
20.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Ophthalmology
; 127(10): 1384-1394, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32423767