EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy
By: Byrne S., Jansen L., U-King-im J.-M., Siddiqui A., Lidov H.G.W., Bodi I., Smith L., Mein R., Cullup T., Dionisi-Vici C., Al-Gazali L., Al-Owain M., Bruwer Z., Al Thihli K., El-Garhy R., Flanigan K.M., Manickam K., Zmuda E., Banks W., Gershoni-Baruch R., Mandel H., Dagan E., Raas-Rothschild A., Barash H., Filloux F., Creel D., Harris M., Hamosh A., Kölker S., Ebrahimi-Fakhari D., Hoffmann G.F., Manchester D., Boyer P.J., Manzur A.Y., Lourenco C.M., Pilz D.T., Kamath A., Prabhakar P., Rao V.K., Rogers R.C., Ryan M.M., Brown N.J., McLean C.A., Said E., Schara U., Stein A., Sewry C., Travan L., Wijburg F.A., Zenker M., Mohammed S., Fanto M., Gautel M., Jungbluth H.
Published in: Brain
SDGs : SDG 03 | Units: Social Welfare & Health Sciences | Time: 2016 | Link
Description: Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy g (more…)