Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Autor: Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, Matsumoto, Naomichi
Zdroj: In Genetics in Medicine January 2023 25(1):90-102
Databáze: ScienceDirect