Results 151 to 160 of about 19,769 (229)

Isoxanthopterin Excretion of Rats with Inherited Retinal Dystrophy

Pteridines, 1990
Cremer-Bartels G., Gerding H., Hanneken L., Krause K.   +3 more
doaj   +1 more source

Mutation Screening in the miR-183/96/182 Cluster in Patients With Inherited Retinal Dystrophy. [PDF]

Front Cell Dev Biol, 2020
Xu S, Coku A, Muraleedharan CK, Harajli A, Mishulin E, Dahabra C, Choi J, Garcia WJ, Webb K, Birch D, Goetz K, Li W.   +11 more
europepmc   +1 more source

Retinal de novo lipogenesis coordinates neurotrophic signaling to maintain vision [PDF]

, 2018
Adak, Sangeeta, Chen, Shiming, Doggett, Teresa, Enright, Jennifer, Hsu, Fong-Fu, Ling, Guoyu, Rajagopal, Rithwick, Semenkovich, Clay F, Shah, Vaishali, Wei, Xiaochao, Yoshino, Jun, Zhang, Sheng   +11 more
core   +2 more sources

Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids. [PDF]

Mol Ther Nucleic Acids
Leung A, Perdigão PRL, Sacristan-Reviriego A, Sladen PE, Aguzzi EA, Rezek FO, Ziaka K, Guarascio R, Hau KL, Cheetham ME, van der Spuy J.   +10 more
europepmc   +1 more source

Computational Evidence for Digenic Contribution of <i>AIPL1</i> and <i>BBS2</i> Rare Variants in Inherited Retinal Dystrophy. [PDF]

Int J Mol Sci
Alibrandi S, Scimone C, Abate G, Scalinci SZ, Sidoti A, Donato L.   +5 more
europepmc   +1 more source

Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy. [PDF]

Int J Ophthalmol, 2020
Liu XZ, Tao TC, Qi H, Feng SN, Chen NN, Zhao L, Ma ZZ, Li GL, Yang LP.   +8 more
europepmc   +1 more source

12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with RPE65-mediated inherited retinal dystrophy. [PDF]

Br J Ophthalmol
Daruich A, Rateaux M, Batté E, de Vergnes N, Valleix S, Robert MP, Bremond Gignac D.   +6 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

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. [PDF]

Int J Mol Sci
Maggi J, Feil S, Gloggnitzer J, Maggi K, Bachmann-Gagescu R, Gerth-Kahlert C, Koller S, Berger W.   +7 more
europepmc   +1 more source

Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice. [PDF]

Eye (Lond)
Testa F, Bacci G, Falsini B, Iarossi G, Melillo P, Mucciolo DP, Murro V, Salvetti AP, Sodi A, Staurenghi G, Simonelli F.   +10 more
europepmc   +1 more source