BetterScholar Search

Title	Claps	Level	Year	L/Y
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy 54 auth. S. Byrne, L. Jansen, J. U-King-im, A. Siddiqui, H. Lidov, I. Bodi, Luke Smith, R. Mein, T. Cullup, C. Dionisi-Vici, L. Al-Gazali, M. Al‐Owain, Z. Bruwer, Khalid Al Thihli, Rana El-Garhy, ... Kevin M. Flanigan, Kandamurugu Manickam, E. Zmuda, Wesley Banks, R. Gershoni-baruch, H. Mandel, E. Dagan, A. Raas‐Rothschild, Hila Barash, F. Filloux, D. Creel, Michael Harris, A. Hamosh, S. Kölker, D. Ebrahimi‐Fakhari, G. Hoffmann, D. Manchester, Philip J. Boyer, Adnan Y. Manzur, C. Lourenco, D. Pilz, Arveen Kamath, P. Prabhakar, Vamshi K. Rao, R. C. Rogers, Monique M. Ryan, Natasha J. Brown, C. Mclean, E. Said, U. Schara, A. Stein, C. Sewry, L. Travan, F. Wijburg, M. Zenker, S. Mohammed, M. Fanto, M. Gautel, H. Jungbluth Vici syndrome is a progressive neurodevelopmental multisystem disorder caused by mutations in the autophagy gene EPG5. Byrne et al. characterise the phenotype of 50 affected children, revealing callosal agenesis, cataracts, hypopigmentation, cardiom… Vici syndrome is a progressive neurodevelopmental multisystem disorder caused by mutations in the autophagy gene EPG5. Byrne et al. characterise the phenotype of 50 affected children, revealing callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, immune dysfunction, developmental delay and microcephaly. Downregulation of epg5 in Drosophila results in autophagic abnormalities and progressive neurodegeneration. Published in Brain : a journal of neurology	8	6	2016