Results 161 to 170 of about 29,682 (236)

Patient-Reported Outcomes in RLBP1 Retinal Dystrophy: Longitudinal Assessment in a Prospective Natural History Study. [PDF]

Transl Vis Sci Technol
Whelan J, Green J, Burstedt M, Greco E, Ni X, Spera C, Mullins A, Deslandes JY, Su Z, Wald M, Grosskreutz CL, Normand G, Charil A, Lu D, Stasi K, Holopigian K.   +15 more
europepmc   +1 more source

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population. [PDF]

Sci Rep
Natsume K, Kominami T, Goto K, Koyanagi Y, Inooka T, Ota J, Kawano K, Yamada K, Okuda D, Yuki K, Nishiguchi KM, Ushida H.   +11 more
europepmc   +1 more source

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype. [PDF]

Front Genet
Esteve-Garcia A, Cobos E, Sau C, Padró-Miquel A, Català-Mora J, Barberán-Martínez P, Millán JM, García-García G, Aguilera C.   +8 more
europepmc   +1 more source

Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial. [PDF]

Nat Commun
Kvanta A, Rangaswamy N, Holopigian K, Watters C, Jennings N, Liew MSH, Bigelow C, Grosskreutz C, Burstedt M, Venkataraman A, Westman S, Geirsdottir A, Stasi K, André H, André H.   +14 more
europepmc   +1 more source

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

, 2023
Perrault I, Zanetti A, Fares-Taie L, Amiel J, Roger J, Audo I, Robert M, David P, Jung V, GOUDIN N, Guerrera I, Moriceau S, Amana D, Boddaert N, Briault S, Bruel A, Gitiaux C, Kaminska K, Philip-Sarles N, Quinodoz M, Santos C, Santos LC, Sigaudy S, Sá MSe, Sousa AB, Thauvin C, Kaplan J, Rivolta C, Rozet J.   +28 more
europepmc   +1 more source

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity. [PDF]

Clin Genet
Lin S, Robson AG, Thompson DA, Stepien KM, Lachmann R, Footitt E, Czyz O, Chandrasekhar S, Schiff E, Iosifidis C, Black GC, Michaelides M, Mahroo OA, Arno G, Webster AR.   +14 more
europepmc   +1 more source

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models. [PDF]

Hum Mol Genet
Corral-Serrano JC, Vaclavik V, Van de Sompele S, Kaminska K, Jovanovic K, Escher P, Van den Broeck F, Cancellieri F, Toulis V, Leroy BP, de Zaeytijd J, You Z, Ottaviani D, Quinodoz M, Bordeanu G, Hardcastle AJ, Coppieters F, Tran VH, Cheetham ME, Rivolta C, De Baere E.   +20 more
europepmc   +1 more source

Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion

, 2023
Luo S, Alwattar B, Li Q, Bora K, Blomfield AK, Lin J, Fulton A, Chen J, Agrawal PB.   +8 more
europepmc   +1 more source

Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction. [PDF]

JCI Insight
Otsuka Y, Imamura K, Oishi A, Asakawa K, Kondo T, Nakai R, Suga M, Inoue I, Sagara Y, Tsukita K, Teranaka K, Nishimura Y, Watanabe A, Umeyama K, Okushima N, Mitani K, Nagashima H, Kawakami K, Muguruma K, Tsujikawa A, Inoue H.   +20 more
europepmc   +1 more source

Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report. [PDF]

Genes (Basel)
Giansanti F, Nicolosi C, Giorgio D, Sodi A, Mucciolo DP, Pavese L, Pollazzi L, Virgili G, Vicini G, Passerini I, Pelo E, Murro V.   +11 more
europepmc   +1 more source