Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S. Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M. Al Shamsi, Homa Tajsharghi, Mohamed S. Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama AlabdiChristian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E. Hickey, Daphna Marom, Emil Elhanan, Manju A. Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I. Al Aqeel, Frances A. High, Amy E. Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A. Schatz, Maryam Ghavideldarestani, Walaa A. Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C. Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J. Gleeson, Fowzan Sami Alkuraya, James R. Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K. Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalBrain : a journal of neurology
Volume146
Issue number12
Pages (from-to)5031-5043
Number of pages13
ISSN0006-8950
DOIs
Publication statusPublished - 1 Dec 2023
MoE publication typeA1 Journal article-refereed

Bibliographical note

Publisher Copyright:
© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.

Fields of Science

  • gene transcription
  • dystonia
  • cerebello-lental degeneration
  • mediator complex
  • cerebellar atrophy
  • neurodevelopmental disorders
  • 3112 Neurosciences
  • 3124 Neurology and psychiatry

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