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Case report

First published 2014-9

Homozygous c.1937+1G>A Splice-Site Variant of the ABCA4 gene is Associated with Stargardt Disease

Chiara M. Eandi, Federico M. Grignolo, Ilaria Passerini [...]

European Journal of Ophthalmology

Retricted access

Research article

First published 2007-7

Molecular Scanning of the ABCA4 Gene in Spanish Patients with Retinitis Pigmentosa and Stargardt Disease: Identification of Novel Mutations

S. Stenirri, S. Battistella, N. Soriani [...]

European Journal of Ophthalmology

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Research article

First published 2023-07

Split AAV8 Mediated ABCA4 Expression for Gene Therapy of Mouse Stargardt Disease (STGD1)

Ruiting Li, Qiuping Jing, Kaiqin She [...]

Human Gene Therapy

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Case report

First published 2012-5

Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation

Maurizio Battaglia Parodi, Umberto De Benedetto, Karl A. Knutsson [...]

European Journal of Ophthalmology

Open access

Research article

First published 2023-06

Rapid and Reliable Quantification of Prime Editing Targeting Within the Porcine ABCA4 Gene Using a BRET-Based Sensor

Tobias Wimmer, Hannah Sawinski, Anne M. Urban [...]

Nucleic Acid Therapeutics

Open access

Review article

First published 2025

Stem cell therapy as treatment for Stargardt disease

Erica Marks, Adith Anugu, Joseph Bisiani [...]

Therapeutic Advances in Ophthalmology

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Research article

First published 2020-6

The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts

Yah-Huei Wu-Chou, Kuo-Ting Philip Chen, Yi-Chieh Lu [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2019-11

Dual ABCA4 -AAV Vector Treatment Reduces Pathogenic Retinal A2E Accumulation in a Mouse Model of Autosomal Recessive Stargardt Disease

Frank M. Dyka, Laurie L. Molday, Vince A. Chiodo [...]

Human Gene Therapy

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Research article

First published 2019-05

An AAV Dual Vector Strategy Ameliorates the Stargardt Phenotype in Adult Abca4 −/− Mice

Michelle E. McClements, Alun R. Barnard, Mandeep S. Singh [...]

Human Gene Therapy

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Case report

First published 2018-1

Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing

Nutsuchar Wangtiraumnuay, Jenina Capasso, Mai Tsukikawa [...]

European Journal of Ophthalmology

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