Results 161 to 170 of about 10,317 (215)

The ABCs of Stargardt disease: the latest advances in precision medicine. [PDF]

Cell Biosci
Zaydon YA, Tsang SH.
europepmc   +1 more source

Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review. [PDF]

Int J Mol Sci
Ghenciu LA, Hațegan OA, Stoicescu ER, Iacob R, Șișu AM.   +4 more
europepmc   +1 more source

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease. [PDF]

Commun Med (Lond)
Karjosukarso DW, Bukkems F, Duijkers L, Tomkiewicz TZ, Kiefmann J, Sarlea A, Bervoets S, Vázquez-Domínguez I, Molday LL, Molday RS, Netea MG, Hoyng CB, Garanto A, Collin RWJ.   +13 more
europepmc   +1 more source

The Surviving, Not Thriving, Photoreceptors in Patients with <i>ABCA4</i> Stargardt Disease. [PDF]

Diagnostics (Basel)
De Bruyn H, Johnson M, Moretti M, Ahmed S, Mujat M, Akula JD, Glavan T, Mihalek I, Aslaksen S, Molday LL, Molday RS, Berkowitz BA, Fulton AB.   +12 more
europepmc   +1 more source

Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease. [PDF]

J Biol Chem
Scortecci JF, Garces FA, Mahto JK, Molday LL, Van Petegem F, Molday RS.   +5 more
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Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models. [PDF]

Sci Adv
Ferla R, Pugni E, Lupo M, Tiberi P, Fioretto F, Perota A, Duchi R, Lagutina I, Gesualdo C, Rossi S, Ventrella D, Elmi A, McClinton B, Toomes C, Xu T, Molday RS, Surace EM, Simonelli F, Bacci ML, Galli C, Memon MA, Shams N, Auricchio A, Trapani I.   +23 more
europepmc   +1 more source

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex <i>ABCA4</i> Allele from Eastern Africa: Two Case Reports. [PDF]

Case Rep Ophthalmol
Aslaksen S, Bratland E, Bu MH, Aukrust I, Bredrup C, Flydal MI, DeLuca AP, Andorf JL, Stone EM, Knappskog PM.   +9 more
europepmc   +1 more source

Corrigendum to "Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework". [PDF]

Hum Mutat
europepmc   +1 more source

Impaired cathepsin D in retinal pigment epithelium cells mediates Stargardt disease pathogenesis. [PDF]

FASEB J
Ng ESY, Hu J, Jiang Z, Radu RA.
europepmc   +1 more source

LONGITUDINAL ADAPTIVE OPTICS SCANNING LASER OPHTHALMOSCOPY REVEALS REGIONAL VARIATION IN CONE AND ROD PHOTORECEPTOR LOSS IN STARGARDT DISEASE. [PDF]

Retina
Song H, Hang H, Li K, Rossi EA, Zhang J.
europepmc   +1 more source