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
|
Margolin, D.H., Kousi, M., Chan, Y.M., Lim, E.T., Schmahmann, J.D., Hadjivassiliou, M., Hall, J.E., Adam, I., Dwyer, A., Plummer, L., Aldrin, S.V., O'Rourke, J., Kirby, A., Lage, K., Milunsky, A., Milunsky, J.M., Chan, J., Hedley-Whyte, E.T., Daly, M.J., Katsanis, N., and Seminara, S.B. (2013) Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. New. Engl. J. Med.. 368(21):1992-2003
|
Saida, K., Tamaoki, J., Sasaki, M., Haniffa, M., Koshimizu, E., Sengoku, T., Maeda, H., Kikuchi, M., Yokoyama, H., Sakamoto, M., Iwama, K., Sekiguchi, F., Hamanaka, K., Fujita, A., Mizuguchi, T., Ogata, K., Miyake, N., Miyatake, S., Kobayashi, M., Matsumoto, N. (2021) Pathogenic variants in the SMN complex gene GEMIN5 cause cerebellar atrophy. Clinical genetics. 100(6):722-730
|
Sanderson, L.E., Lanko, K., Alsagob, M., Almass, R., Al-Ahmadi, N., Najafi, M., Al-Muhaizea, M.A., Alzaidan, H., AlDhalaan, H., Perenthaler, E., van der Linde, H.C., Nikoncuk, A., Kühn, N.A., Antony, D., Owaidah, T.M., Raskin, S., Vieira, L.G.D.R., Mombach, R., Ahangari, N., Silveira, T.R.D., Ameziane, N., Rolfs, A., Alharbi, A., Sabbagh, R.M., AlAhmadi, K., Alawam, B., Ghebeh, H., AlHargan, A., Albader, A.A., Binhumaid, F.S., Goljan, E., Monies, D., Mustafa, O.M., Aldosary, M., AlBakheet, A., Alyounes, B., Almutairi, F., Al-Odaib, A., Aksoy, D.B., Basak, A.N., Palvadeau, R., Trabzuni, D., Rosenfeld, J.A., Karimiani, E.G., Meyer, B.F., Karakas, B., Al-Mohanna, F., Arold, S.T., Colak, D., Maroofian, R., Houlden, H., Bertoli-Avella, A.M., Schmidts, M., Barakat, T.S., van Ham, T.J., Kaya, N. (2021) Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain : a journal of neurology. 144(3):769-780
|
