Detalhe da pesquisa
1.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
2.
Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2.
Mov Disord
; 39(1): 203-209, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38037516
3.
Characterization of Retinal Architecture in Spinocerebellar Ataxia Type 3 and Correlation with Disease Severity.
Mov Disord
; 37(4): 758-766, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34936137
4.
A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review.
Medicina (Kaunas)
; 57(3)2021 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33652663
5.
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
em Inglês
| MEDLINE | ID: mdl-32423767
6.
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Ann Neurol
; 86(3): 368-383, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31298765
7.
Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS).
Neuroophthalmology
; 44(6): 413-414, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408429
8.
Treatment strategies for Leber hereditary optic neuropathy.
Curr Opin Neurol
; 32(1): 99-104, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30516647
9.
Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.
J Neuroophthalmol
; 43(4): e142-e145, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35439212
10.
OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.
J Neuroophthalmol
; 43(4): 464-474, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974363
11.
Leber hereditary optic neuropathy: bridging the translational gap.
Curr Opin Ophthalmol
; 28(5): 403-409, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28650878
12.
Vessel Volume Rendering Quantifies Disease Conversion and Progression in Leber Hereditary Optic Neuropathy.
J Neuroophthalmol
; 42(1): e331-e334, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34924522
13.
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
Ophthalmology
; 128(6): 952-955, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33137351
14.
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Ophthalmol Retina
; 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219857
15.
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
16.
Mitochondria and the eye-manifestations of mitochondrial diseases and their management.
Eye (Lond)
; 37(12): 2416-2425, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185957
17.
Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights.
Am J Ophthalmol
; 249: 99-107, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543315
18.
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation.
Ophthalmol Ther
; 12(1): 401-429, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36449262
19.
The Role of the Inner Nuclear Layer for Perception of Persisting Tiling Inside a Monocular Scotoma.
Brain Sci
; 12(11)2022 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36421866
20.
Re-evaluating diabetic papillopathy using optical coherence tomography and inner retinal sublayer analysis.
Eye (Lond)
; 36(7): 1476-1485, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244671