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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

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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

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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 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 2017-7

ABCA4 Mutation in a Patient With Juvenile Neuronal Ceroid Lipofuscinosis

Daniela Reyes-Capó, Camila V. Ventura, Mustafa Tekin [...]

Journal of VitreoRetinal Diseases

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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 2024-06

Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4

Zelia Corradi, Rebekkah J. Hitti-Malin, Laura A. de Rooij [...]

Nucleic Acid Therapeutics

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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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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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