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Treatment of geriatrics lymphedema with shockwave therapy by Cappellino F, Fiorentino A, Moneta G, Failla A, Cardone M, Michelini S

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa by Fiorentino, A, Yu, J, Arno, G, Pontikos, N, Halford, S, Broadgate, S, Michaelides, M, Carss, K, Raymond, F, Cheetham, M, Webster, A, Downes, S, Hardcastle, A, NIHR-BioResource Rare Diseases Consortium, UK Inherited Retinal Dystrophy Consortium

Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration by Arno, G, Carss, KJ, Hull, S, Zihni, C, Robson, AG, Fiorentino, A, UK Inherited Retinal Disease Consortium, Hardcastle, AJ, Holder, GE, Cheetham, ME, Plagnol, V, NIHR Bioresource - Rare Diseases Consortium, Moore, AT, Raymond, FL, Matter, K, Balda, MS, Webster, AR

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Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies by Xu, M, Xie, YA, Abouzeid, H, Gordon, CT, Fiorentino, A, Sun, Z, Lehman, A, Osman, IS, Dharmat, R, Riveiro-Alvarez, R, Bapst-Wicht, L, Babino, D, Arno, G, Busetto, V, Zhao, L, Li, H, Lopez-Martinez, MA, Azevedo, LF, Hubert, L, Pontikos, N, Eblimit, A, Lorda-Sanchez, I, Kheir, V, Plagnol, V, Oufadem, M, Soens, ZT, Yang, L, Bole-Feysot, C, Pfundt, R, Allaman-Pillet, N, Nitschké, P, Cheetham, ME, Lyonnet, S, Agrawal, SA, Li, H, Pinton, G, Michaelides, M, Besmond, C, Li, Y, Yuan, Z, Von Lintig, J, Webster, AR, Le Hir, H, Stoilov, P, UK Inherited Retinal Dystrophy Consortium, Halford, S, Amiel, J, Hardcastle, AJ, Ayuso, C, Sui, R, Chen, R, Allikmets, R, Schorderet, DF