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Page 1
Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.
Thomas-Black G, Altmann DR, Crook H, Solanky N, Carrasco FP, Battiston M, Grussu F, Yiannakas MC, Kanber B, Jolly JK, Brett J, Downes SM, Moran M, Chan PK, Adewunmi E, Gandini Wheeler-Kingshott CAM, Németh AH, Festenstein R, Bremner F, Giunti P. Thomas-Black G, et al. Mov Disord. 2023 Jun;38(6):959-969. doi: 10.1002/mds.29277. Epub 2022 Nov 25. Mov Disord. 2023. PMID: 36433650
INCREASING EVIDENCE FOR THE SAFETY OF FOVEA-INVOLVING HALF-DOSE PHOTODYNAMIC THERAPY FOR CHRONIC CENTRAL SEROUS CHORIORETINOPATHY.
Feenstra HMA, Diederen RMH, Lamme MJCM, Tsonaka R, Fauser S, Yzer S, van Rijssen T, Gkika T, Downes SM, Schlingemann RO, Hoyng CB, van Dijk EHC, Boon CJF. Feenstra HMA, et al. Among authors: downes sm. Retina. 2023 Mar 1;43(3):379-388. doi: 10.1097/IAE.0000000000003686. Epub 2023 Jan 2. Retina. 2023. PMID: 36727801 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: downes sm. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S, Casey GA, Zhai Y, Nadolski NJ, Majumder MH, Tagoe J, D'Esposito F, Cordeiro MF, Downes S, Clayton-Smith J, Ellingford J; Genomics England Research Consortium; Mahroo OA, Hocking JC, Cheetham ME, Webster AR, Jansen G, Blacque OE, Allison WT, Au PYB, MacDonald IM, Arno G, Leroux MR. Chrystal PW, et al. Among authors: downes s. Nat Commun. 2022 Nov 3;13(1):6595. doi: 10.1038/s41467-022-33820-w. Nat Commun. 2022. PMID: 36329026 Free PMC article.
The UK clinical eye research strategy: refreshing research priorities for clinical eye research in the UK.
Bourne RRA, Moledina M, Azuara-Blanco A, Saleh GM, Self JE, Sivaprasad S, Sharma SM, Ross A, Gilbert RM, Abdalla Elsayed MEA, Moon WY, Doug M, Mulholland PJ, Day AC, Romano V, Hoad GV, Kara M, Murray A, Gow L, Ghanchi F, Patel PJ, Gale RP, Dinah C, Valentine K, Yelf C, Poustie V; NIHR Ophthalmology Specialty Group; Executive Group of UK Clinical Eye Research Strategy. Bourne RRA, et al. Eye (Lond). 2024 May 29. doi: 10.1038/s41433-024-03049-6. Online ahead of print. Eye (Lond). 2024. PMID: 38806699
344 results