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

Maroofian, R., Kaiyrzhanov, R., Cali, E., Zamani, M., Zaki, M. S., Ferla, M., Tortora, D., Sadeghian, S., Saadi, S. M., Abdullah, U., Karimiani, E. G., Efthymiou, S., Yeşil, G., Alavi, S., Al Shamsi, A. M., Tajsharghi, H., Abdel-Hamid, M. S., Saadi, N. W., Al Mutairi, F., … Severino, M. (2023). Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain, 146(12), 5031–5043. https://doi.org/10.1093/brain/awad257
Authors:
Reza Maroofian
Rauan Kaiyrzhanov
Elisa Calì
Mina Zamani
Maha S. Zaki
Matteo P. Ferla
Domenico Tortora
Saeid Sadeghian
Saadia Maryam Saadi
Uzma Abdullah
Ehsan Ghayoor Karimiani
Stéphanie Efthymiou
Gözde Yeşil
Shahryar Alavi
Aisha M. Al Shamsi
Homa Tajsharghi
Mohamed S. Abdel‐Hamid
Nebal Waill Saadi
Fuad Al Mutairi
Lama AlAbdi
Christian 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 R. Lalani
Shazia Maqbool
Fatima Rahman
Jürgen Seeger
Timothy Blake Palculict
Tracy Lau
David Murphy
Niccolò E. Mencacci
Katharina Steindl
Anaïs Begemann
Anita Rauch
Sinan Akbas
Ayça Dilruba Aslanger
Karl T. Weber
Hammad Yousaf
Shay Ben‐Shachar
Katarina Ejeskär
Aida I. Al Aqeel
Frances A. High
Amy Armstrong‐Javors
Seyed Mohammadsaleh Zahraei
Tahereh Seifi
Jawaher Zeighami
Gholamreza Shariati
Alireza Sedaghat
Samaneh Noroozi Asl
Mohmmad Shahrooei
Giovanni Zifarelli
Lydie Bürglen
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 S. Alkuraya
James R. Lupski
Hamid Galehdari
Reza Azizi Malamiri
Wendy K. Chung
Shahid Mahmood Baig
Henry Houlden
Mariasavina Severino
Affiliated Authors:
Wendy K. Chung
Columbia Affiliation:
Subjects:
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
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Publication Type:
Article
Unique ID:
10.1093/brain/awad257
PMID:
37517035
DOI:
10.1093/brain/awad257
Journal:
Brain
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record

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