Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

Eva Medico Salsench, Reza Maroofian, Ruizhi Deng, Kristina Lanko, Anita Nikoncuk, Belén Pérez, Obdulia Sánchez-Lijarcio, Salvador Ibáñez-Mico, Antonina Wojcik, Marcelo Vargas, Nouriya Abbas Al-Sannaa, Marian Y. Girgis, Tainá Regina Damaceno Silveira, Peter Bauer, Audrey Schroeder, Chin To Fong, Amber Begtrup, Meisam Babaei, Mehran Beiraghi Toosi, Farah AshrafzadehShima Imannezhad, Mohammad Doosti, Najmeh Ahangari, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani, David Murphy, Elisa Cali, Ibrahim H. Kaya, Mohammad Almuhaizea, Dilek Colak, Kelly J. Cardona-Londoño, Stefan T. Arold, Henry Houlden, Aida Bertoli-Avella, Namik Kaya*, Tahsin Stefan Barakat*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)
20 Downloads (Pure)
Original languageEnglish
Article numbere86
JournalBrain
Volume144
Issue number10
Early online date9 Aug 2021
DOIs
Publication statusPublished - Oct 2021

Bibliographical note

Funding:
R.D. is supported by a China Scholarship Council (CSC) PhD
Fellowship (201906300026) for her PhD studies at the Erasmus
Medical Center, Rotterdam, the Netherlands. B.P. was funded by
PI19/01155 and B2017/BMD-3721. The work by K.J.C.L. and S.T.A. was
supported by the King Abdullah University of Science and
Technology (KAUST) through the baseline fund and the Award No.
FCC/1/1976–25 and REI/1/4446–01 from the Office of Sponsored
Research (OSR). N.K.’s laboratory is supported by KFSHRC seed
grants (RAC2120022), King Salman Center for Disability Research
(KSCDR#2180 004) and King Abdulaziz City for Science and
Technology (KACST#14-MED2007-20). T.S.B.’s laboratory is supported by the Netherlands Organization for Scientific Research
(ZonMw Veni, Grant 91617021), an Erasmus MC Fellowship 2017 and
Erasmus MC Human Disease Model Award 2018.

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