TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
| dc.contributor.author | Almousa, Hashem | |
| dc.contributor.author | Lewis, Sara A. | |
| dc.contributor.author | Bakhtiari, Somayeh | |
| dc.contributor.author | Nordlie, Sandra Hinz | |
| dc.contributor.author | Pagnozzi, Alex | |
| dc.contributor.author | Magee, Helen | |
| dc.contributor.author | Efthymiou, Stephanie | |
| dc.contributor.author | Heim, Jennifer A. | |
| dc.contributor.author | Cornejo, Patricia | |
| dc.contributor.author | Zaki, Maha S. | |
| dc.contributor.author | Anwar, Najwa | |
| dc.contributor.author | Maqbool, Shazia | |
| dc.contributor.author | Rahman, Fatima | |
| dc.contributor.author | Neilson, Derek E. | |
| dc.contributor.author | Vemuri, Anusha | |
| dc.contributor.author | Jin, Sheng Chih | |
| dc.contributor.author | Yang, Xiao\\-Ru | |
| dc.contributor.author | Heidari, Abolfazl | |
| dc.contributor.author | van Gassen, Koen | |
| dc.contributor.author | Trimouille, Aurelien | |
| dc.contributor.author | Thauvin\\-Robinet, Christel | |
| dc.contributor.author | Liu, James | |
| dc.contributor.author | Bruel, Ange\\-Line | |
| dc.contributor.author | Tomoum, Hoda | |
| dc.contributor.author | Shata, Mennatallah O. | |
| dc.contributor.author | Hashem, Mais O. | |
| dc.contributor.author | Toosi, Mehran Beiraghi | |
| dc.contributor.author | Karimiani, Ehsan Ghayoor | |
| dc.contributor.author | Yesil, Gozde | |
| dc.contributor.author | Lingappa, Lokesh | |
| dc.contributor.author | Baruah, Debangana | |
| dc.contributor.author | Ebrahimzadeh, Farnoosh | |
| dc.contributor.author | Van\\-Gils, Julien | |
| dc.contributor.author | Faivre, Laurence | |
| dc.contributor.author | Zamani, Mina | |
| dc.contributor.author | Galehdari, Hamid | |
| dc.contributor.author | Sadeghian, Saeid | |
| dc.contributor.author | Shariati, Gholamreza | |
| dc.contributor.author | Mohammad, Rahema | |
| dc.contributor.author | van der Smagt, Jasper | |
| dc.contributor.author | Qari, Alya | |
| dc.contributor.author | Vincent, John B. | |
| dc.contributor.author | Innes, A. Micheil | |
| dc.contributor.author | Dursun, Ali | |
| dc.contributor.author | Ozgul, R. Koksal | |
| dc.contributor.author | Akar, Halil Tuna | |
| dc.contributor.author | Bilguvar, Kaya | |
| dc.contributor.author | Mignot, Cyril | |
| dc.contributor.author | Keren, Boris | |
| dc.contributor.author | Raveli, Claudia | |
| dc.contributor.author | Burglen, Lydie | |
| dc.contributor.author | Afenjar, Alexandra | |
| dc.contributor.author | Kaat, Laura Donker | |
| dc.contributor.author | van Slegtenhorst, Marjon | |
| dc.contributor.author | Alkuraya, Fowzan | |
| dc.contributor.author | Houlden, Henry | |
| dc.contributor.author | Padilla\\-Lopez, Sergio | |
| dc.contributor.author | Maroofian, Reza | |
| dc.contributor.author | Sacher, Michael | |
| dc.contributor.author | Kruer, Michael C. | |
| dc.date.accessioned | 2025-10-16T15:14:01Z | |
| dc.date.issued | 2024 | |
| dc.identifier.doi | 10.1093/brain/awad301 | |
| dc.identifier.other | WOS:001133529100001 | |
| dc.identifier.uri | https://openaccess.acibadem.edu.tr/handle/11443/6031 | |
| dc.publisher | OXFORD UNIV PRESS | |
| dc.source | BRAIN | |
| dc.subject | TRAPPC6B | |
| dc.subject | NEDMEBA | |
| dc.subject | TRAPPopathy | |
| dc.subject | TRAPP\\-II complex | |
| dc.subject | ER\\-golgi trafficking | |
| dc.subject | Trs33 | |
| dc.title | TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions | |
| dc.type | Article |
