EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy
מאת: 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.
פורסם ב: Brain
תיאור: Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy g המשך…