Results 161 to 170 of about 12,927 (274)

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis [PDF]

, 2001
S. Gerber, Isabelle Perrault, Sylvain Hanein, Fabienne Barbet, Dominique Ducroq, Imad Ghazi, Dominique Martin‐Coignard, Corinne Leowski, Tessa Homfray, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet   +12 more
openalex   +1 more source

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis. [PDF]

BMC Ophthalmol, 2022
Roman AJ, Cideciyan AV, Wu V, Mascio AA, Krishnan AK, Garafalo AV, Jacobson SG.   +6 more
europepmc   +1 more source

Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants [PDF]

, 2015
Yo Sasaki, Zachary Margolin, Benjamin Borgo, James J. Havranek, Jeffrey Milbrandt   +4 more
openalex   +1 more source

Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov

Journal of Multidisciplinary Healthcare
Ahmed M Ashour,1,2 Maan H Harbi,1 Fahad S Alshehri,1,2 Saad M Wali,1 Mohammed M Aldurdunji,3 Nasser M Alorfi1 1Department of Pharmacology and Toxicology, College of Pharmacy, Umm Al-Qura University, Makkah, Saudi Arabia; 2King Salman Center for ...
Ashour AM, Harbi MH, Alshehri FS, Wali SM, Aldurdunji MM, Alorfi NM   +5 more
doaj  

Preclinical studies in support of phase I/II clinical trials to treat GUCY2D-associated Leber congenital amaurosis. [PDF]

Mol Ther Methods Clin Dev, 2023
Boye SL, O'Riordan C, Morris J, Lukason M, Compton D, Baek R, Elmore DM, Peterson JJ, Fajardo D, McCullough KT, Scaria A, McVie-Wylie A, Boye SE.   +12 more
europepmc   +1 more source

Minocycline treatment reduces the activation of mononuclear phagocytes and improves retinal function in a mouse model of Leber congenital amaurosis. [PDF]

Graefes Arch Clin Exp Ophthalmol
Bubis E, Sher I, Ketter-Katz H, Derzane E, Sennlaub F, Rotenstreich Y.   +5 more
europepmc   +1 more source

Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures. [PDF]

J Patient Rep Outcomes, 2023
Kay C, Audo I, Naujoks C, Spera C, Fischer MD, Green J, Durham T, Williamson N, Bradley H, Barclay M, Sims J, Banhazi J, Patalano F.   +12 more
europepmc   +1 more source

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290 [PDF]

, 2012
Rob W.J. Collin, Anneke I. den Hollander, Saskia D. van der Velde-Visser, Jeannette Bennicelli, Jean Bennett, Frans P.M. Cremers   +5 more
openalex   +1 more source

Gene therapy trial lights the way for patients with Leber congenital amaurosis 1. [PDF]

Mol Ther
Chan YK.
europepmc   +1 more source

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review. [PDF]

BMC Med Genomics, 2022
Duan W, Zhou T, Jiang H, Zhang M, Hu M, Zhang L.   +5 more
europepmc   +1 more source