The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

Autor: Birch, David G, Samarakoon, Lassana, Melia, Michele, Duncan, Jacque L, Ayala, Allison R, Audo, Isabelle, Cheetham, Janet K, Durham, Todd A, Iannaccone, Alessandro, Pennesi, Mark E, Stingl, Katarina, Foundation Fighting Blindness Consortium Investigator Group

Publikováno v: Investigative ophthalmology & visual science, vol 63, iss 3

PurposeTo measure visual fields using two-color dark-adapted chromatic perimetry in a subset of participants in the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A), a study of USH2A-mediated syndromic (USH2) and autosomal recessive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::329a4337f17678b7b2e38f4845599a1b
https://escholarship.org/uc/item/0xp459r9

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

Autor: Durham, Todd A, Duncan, Jacque L, Ayala, Allison R, Birch, David G, Cheetham, Janet K, Ferris, Frederick L, Hoyng, Carel B, Pennesi, Mark E, Sahel, José-Alain, Foundation Fighting Blindness Consortium Investigator Group

Publikováno v: Translational vision science & technology, vol 10, iss 4

The Foundation Fighting Blindness, a 501(c)(3) nonprofit organization, established an international consortium of inherited retinal disease specialists in 2016, with a mission to accelerate the development of treatments for rare, inherited retinal de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7b8fe1489bce4382035a5408a1441320
https://escholarship.org/uc/item/72t44439

Las personas con enfermedad de Stargardt o distrofia de conos y bastones recesiva no deberían exceder la cantidad diaria recomendada de vitamina A

Autor: Foundation Fighting Blindness

Publikováno v: RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)

Artículo original disponible en la página web de Retina International, Press Releases http://www.retina-international.com/index.php?menuid=47&downloadid=151&reporeid=0), publicado el 29 de octubre de 2008. Traducido por José Martín Nieto. Tras un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::157f7e279dd6763bf021297e81f5508e
https://hdl.handle.net/10045/9717

Delivery of oligonucleotide‐based therapeutics: challenges and opportunities

Autor: Annemieke Aartsma-Rus, Marisol Montolio, Gisela Gaina, Camilla Foged, Suzan M. Hammond, Alejandro Garanto, David R. Jones, Lourdes R. Desviat, Giuseppina Covello, Sabine Krause, Magdalena Guzowska, Virginia Arechavala-Gomeza, Sven Even F. Borgos, Willeke M. C. van Roon-Mom, Taavi Lehto, Sandra Alves, Ronald A.M. Buijsen, Michela A. Denti, Aurélie Goyenvalle, Rob W.J. Collin, Irina Holodnuka, Lucia Echevarria

Publikováno v: EMBO Molecular Medicine, Vol 13, Iss 4, Pp n/a-n/a (2021)
EMBO Molecular Medicine
EMBO Molecular Medicine, Wiley Open Access, 2021, 13 (4), ⟨10.15252/emmm.202013243⟩
e13243
EMBO Molecular Medicine, 13
Digital.CSIC. Repositorio Institucional del CSIC
instname
EMBO Molecular Medicine, 13(4). WILEY
Hammond, S M, Aartsma-Rus, A, Alves, S, Borgos, S E, Buijsen, R A M, Collin, R W J, Covello, G, Denti, M A, Desviat, L R, Echevarría, L, Foged, C, Gaina, G, Garanto, A, Goyenvalle, A T, Guzowska, M, Holodnuka, I, Jones, D R, Krause, S, Lehto, T, Montolio, M, Van Roon-Mom, W & Arechavala-Gomeza, V 2021, ' Delivery of oligonucleotide-based therapeutics : challenges and opportunities ', EMBO Molecular Medicine, vol. 13, no. 4, e13243 . https://doi.org/10.15252/emmm.202013243
Biblos-e Archivo. Repositorio Institucional de la UAM
EMBO Molecular Medicine, 13, 4

Nucleic acid‐based therapeutics that regulate gene expression have been developed towards clinical use at a steady pace for several decades, but in recent years the field has been accelerating. To date, there are 11 marketed products based on antis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6de046d4014872f097c116dd271d0d7
https://doi.org/10.15252/emmm.202013243

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

Autor: Jacque L. Duncan, Amy M. Laster, John D. Ash, Stephen P. Daiger, John G. Flannery, Alessandro Iannaccone, Eric A. Pierce, Marco A. Zarbin, Jose A. Sahel, David G. Birch, Donald J. Zack

Publikováno v: Translational vision science & technology, vol 7, iss 4
Translational vision science & technology
Translational vision science & technology, 2018, 7 (4), pp.6. ⟨10.1167/tvst.7.4.6⟩
Translational Vision Science & Technology

Inherited retinal degenerations (IRDs) represent a diverse group of progressive, visually debilitating diseases that can lead to blindness in which mutations in genes that are critical to retinal function lead to progressive photoreceptor cell death

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c963b8921e106c1c50d9386903d4ad
https://escholarship.org/uc/item/4q72j0c1