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Mutations in IMPG1 cause vitelliform macular dystrophies.
Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP. Manes G, et al. Among authors: weber m. Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993198 Free PMC article.
Gangliosides. A potential therapeutic approach in retinal ischemia.
Mohand-Said S, Weber M, Hicks D, Dreyfus H, Sahel J. Mohand-Said S, et al. Among authors: weber m. Ann N Y Acad Sci. 1998 Jun 19;845:421-2. doi: 10.1111/j.1749-6632.1998.tb09709.x. Ann N Y Acad Sci. 1998. PMID: 9668385 No abstract available.
Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium.
Rolling F, Le Meur G, Stieger K, Smith AJ, Weber M, Deschamps JY, Nivard D, Mendes-Madeira A, Provost N, Péréon Y, Cherel Y, Ali RR, Hamel C, Moullier P, Rolling F. Rolling F, et al. Among authors: weber m. Bull Mem Acad R Med Belg. 2006;161(10-12):497-508; discussion 508-9. Bull Mem Acad R Med Belg. 2006. PMID: 17503728
Maculopathy and spinocerebellar ataxia type 1: a new association?
Lebranchu P, Le Meur G, Magot A, David A, Verny C, Weber M, Milea D. Lebranchu P, et al. Among authors: weber m. J Neuroophthalmol. 2013 Sep;33(3):225-31. doi: 10.1097/WNO.0b013e31828d4add. J Neuroophthalmol. 2013. PMID: 23584155
8,185 results