Akizu, N., Cantagrel, V., Zaki, M.S., Al-Gazali, L., Wang, X., Rosti, R.O., Dikoglu, E., Gelot, A.B., Rosti, B., Vaux, K.K., Scott, E.M., Silhavy, J.L., Schroth, J., Copeland, B., Schaffer, A.E., Gordts, P.L., Esko, J.D., Buschman, M.D., Field, S.J., Napolitano, G., Abdel-Salam, G.M., Ozgul, R.K., Sagıroglu, M.S., Azam, M., Ismail, S., Aglan, M., Selim, L., Mahmoud, I.G., Abdel-Hadi, S., Badawy, A.E., Sadek, A.A., Mojahedi, F., Kayserili, H., Masri, A., Bastaki, L., Temtamy, S., Müller, U., Desguerre, I., Casanova, J.L., Dursun, A., Gunel, M., Gabriel, S.B., de Lonlay, P., Gleeson, J.G. (2015) Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47(5):528-34

Akizu, N., Cantagrel, V., Zaki, M.S., Al-Gazali, L., Wang, X., Rosti, R.O., Dikoglu, E., Gelot, A.B., Rosti, B., Vaux, K.K., Scott, E.M., Silhavy, J.L., Schroth, J., Copeland, B., Schaffer, A.E., Gordts, P.L., Esko, J.D., Buschman, M.D., Field, S.J., Napolitano, G., Abdel-Salam, G.M., Ozgul, R.K., Sagıroglu, M.S., Azam, M., Ismail, S., Aglan, M., Selim, L., Mahmoud, I.G., Abdel-Hadi, S., Badawy, A.E., Sadek, A.A., Mojahedi, F., Kayserili, H., Masri, A., Bastaki, L., Temtamy, S., Müller, U., Desguerre, I., Casanova, J.L., Dursun, A., Gunel, M., Gabriel, S.B., de Lonlay, P., Gleeson, J.G. (2015) Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47(5):528-34