Results 111 to 120 of about 266,209 (210)

Leber Congenital Amaurosis [PDF]

, 2020
openaire   +3 more sources

Psychometric Validation of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis. [PDF]

Ophthalmol Ther, 2023
Fischer MD, Patalano F, Naujoks C, Banhazi J, Bouchet C, O'Brien P, Kay C, Green J, Durham T, Bradley H, Williamson N, Barclay M, Sims J, Audo I.   +13 more
europepmc   +1 more source

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme. [PDF]

JCI Insight, 2023
Faber S, Mercey O, Junger K, Garanto A, May-Simera H, Ueffing M, Collin RW, Boldt K, Guichard P, Hamel V, Roepman R.   +10 more
europepmc   +1 more source

Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing. [PDF]

Mol Ther Nucleic Acids, 2023
Jo DH, Jang HK, Cho CS, Han JH, Ryu G, Jung Y, Bae S, Kim JH.   +7 more
europepmc   +1 more source

Case Report: Severe Expressive Language Disorder of a Child with Laber\'s Congenital Amaurosis

Journal of Rehabilitation, 2001
A 4 years old blind boy with leber's congenital amaurosis was referred for his severe expressive language problems. There was a considerable discrepancy between receptive and expressive language capabilities in favor of receptive ones.
Fariba Yadegari, Seyyed Jalal Sadrosadat
doaj  

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

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  

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort. [PDF]

Int J Mol Sci, 2023
Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S.   +4 more
europepmc   +1 more source

Gene Therapy Using Recombinant Adeno-Associated Virus for Leber Congenital Amaurosis Induced by RPE65 Mutation. [PDF]

Clin Ophthalmol
Owliaee I, Teimoori A, Shoushtari M, Shojaeian A.   +3 more
europepmc   +1 more source

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. [PDF]

Front Cell Dev Biol, 2023
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S.   +47 more
europepmc   +1 more source