A transposase-derived gene required for human brain development

por Zapater, Luz Jubierre, Rodriguez-Fos, Elias, Planas-Felix, Merce, Lewis, Sara, Cameron, Daniel, Demarest, Phillip, Nabila, Anika, Zhao, Junfei, Bergin, Paul, Reed, Casie, Yamada, Makiko, Pagnozzi, Alex, Nava, Caroline, Bourel-Ponchel, Emilie, Neilson, Derek E., Dursun, Ali, Özgül, R. Köksal, Akar, Halil Tuna, Socci, Nicholas D., Hayes, Matthew, Rabadan, Raul, Torrents, David, Kruer, Michael C., Toth, Miklos, Kentsis, Alex
Publicado 2023

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

por Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip, Esko, Jeffrey D., Buschman, Matthew D., Fields, Seth J., Napolitano, Gennaro, Ozgul, R. Koksal, Sagiroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Gamal, Iman, Hadi, Sawsan Abdel, El Badawy, Amera, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., de Lonlay, Pascale, Gleeson, Joseph G.
Publicado 2015