Robin R Ali
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Explore the profile of Robin R Ali including associated specialties, affiliations and a list of published articles.
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166
Citations
6576
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Recent Articles
1.
Michaelides M, Laich Y, Wong S, Oluonye N, Zaman S, Kumaran N, et al.
Lancet
. 2025 Feb;
405(10479):648-657.
PMID: 39986747
Background: Retinal dystrophy caused by genetic deficiency of AIPL1 causes severe and rapidly progressive impairment of sight from birth. We sought to evaluate whether early intervention by gene supplementation therapy...
2.
Raeker M, Perera N, Karoukis A, Chen L, Feathers K, Ali R, et al.
Cells
. 2024 Jun;
13(12.
PMID: 38920696
Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in , encoding Rab escort protein 1 (REP-1), leading to under-prenylation of Rab GTPases (Rabs). Despite ubiquitous expression of , the...
3.
Michaelides M, Besirli C, Yang Y, de Guimaraes T, Wong S, Huckfeldt R, et al.
Am J Ophthalmol
. 2024 Jun;
267:122-134.
PMID: 38871269
Purpose: To assess the safety and efficacy of AAV5-hRKp.RPGR in participants with retinitis pigmentosa GTPase regulator (RPGR)-associated X-linked retinitis pigmentosa (XLRP). Design: Open-label, phase 1/2 dose escalation/expansion study (ClinicalTrials.gov Identifier:...
4.
Atkinson R, Georgiou M, Yang C, Szymanska K, Lahat A, Vasconcelos E, et al.
Nat Commun
. 2024 Apr;
15(1):3138.
PMID: 38605034
The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity...
5.
Kalargyrou A, Matsuyama A, Lanning E, Khazim M, Guilfoyle S, Smith A, et al.
STAR Protoc
. 2024 Feb;
5(1):102875.
PMID: 38386547
Here, we present a protocol for isolating and culturing mouse photoreceptors in a minimal, chemically defined medium free from serum. We describe steps for retina dissection, enzymatic dissociation, photoreceptor enrichment,...
6.
Georgiadis A, Tschernutter M, Bainbridge J, Balaggan K, Mowat F, West E, et al.
PLoS One
. 2023 Dec;
18(12):e0295782.
PMID: 38060570
[This corrects the article DOI: 10.1371/journal.pone.0015730.].
7.
Menger K, Logan A, Luhmann U, Smith A, Wright A, Ali R, et al.
Redox Biochem Chem
. 2023 Dec;
5-6:None.
PMID: 38046619
Retinitis pigmentosa (RP) is a disease characterised by photoreceptor cell death. It can be initiated by mutations in a number of different genes, primarily affecting rods, which will die first,...
8.
Cristante E, Liyanage S, Smith A, Ali R, Bainbridge J
Am J Pathol
. 2023 Jun;
193(11):1694-1705.
PMID: 37330004
Cre mice are widely used for conditional retinal pigment epithelium (RPE) gene function studies. Like other Cre/LoxP models, phenotypes in Cre mice can be affected by Cre-mediated cellular toxicity, leading...
9.
Hashem S, Georgiou M, Ali R, Michaelides M
Cold Spring Harb Perspect Med
. 2023 May;
13(11).
PMID: 37188525
Retinitis pigmentosa GTPase regulator () gene variants are the predominant cause of X-linked retinitis pigmentosa (XLRP) and a common cause of cone-rod dystrophy (CORD). XLRP presents as early as the...
10.
Michaelides M, Hirji N, Wong S, Besirli C, Zaman S, Kumaran N, et al.
Am J Ophthalmol
. 2023 May;
253:243-251.
PMID: 37172884
Purpose: To assess the safety and efficacy of AAV8-hCARp.hCNGB3 in participants with CNGB3-associated achromatopsia (ACHM). Design: Prospective, phase 1/2 (NCT03001310), open-label, nonrandomized clinical trial. Methods: The study enrolled 23 adults...