Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian(National Hospital for Neurology and Neurosurgery), Sinan Akbaş(Istanbul University), Pirjo Isohanni(University of Helsinki), Domenico Tortora(Istituto Giannina Gaslini), Shazia Maqbool, Rauan Kaiyrzhanov(National Hospital for Neurology and Neurosurgery), Maha S. Zaki(National Research Centre), Manju A. Kurian(Great Ormond Street Hospital), Mehran Beiraghi Toosi(Mashhad University of Medical Sciences), Elisa Calì(National Hospital for Neurology and Neurosurgery), Mohammad Hamid(Pasteur Institute of Iran), Timothy Blake Palculict, Mina Zamani(Shahid Chamran University of Ahvaz), Dana Marafi(Baylor College of Medicine), Linyan Meng(Baylor College of Medicine), Fatima Rahman, Stéphanie Efthymiou(Queen Mary University of London), Nebal Waill Saadi(Baghdad Medical City), Seema R. Lalani(Baylor College of Medicine), Katharina Steindl(University of Zurich), Emil Elhanan(Tel Aviv University), Saeid Sadeghian(Ahvaz Jundishapur University of Medical Sciences), Anita Rauch(Friedrich-Alexander-Universität Erlangen-Nürnberg), Daphna Marom(Tel Aviv University), David Murphy(National Hospital for Neurology and Neurosurgery), Niccolò E. Mencacci(Universität Hamburg), Jameel Muhammad(Aga Khan University), Tracy Lau(National Hospital for Neurology and Neurosurgery), Homa Tajsharghi(University of Skövde), Anaïs Begemann(University of Zurich), Lama AlAbdi(King Faisal Specialist Hospital & Research Centre), Sheraz Khan(Ahvaz Jundishapur University of Medical Sciences), Alihossein Saberi(Ahvaz Jundishapur University of Medical Sciences), Jürgen Seeger(Deutsche Klinik für Diagnostik), Ehsan Ghayoor Karimiani(St George's, University of London), Uzma Abdullah(Pir Mehr Ali Shah Arid Agriculture University), Zafar Ali(University of Swat), Robert Spaull(Great Ormond Street Hospital), Sabine Rudnik‐Schöneborn(Innsbruck Medical University), Scott E. Hickey(Nationwide Children's Hospital), Mohamed S. Abdel‐Hamid(National Research Centre), Saadia Maryam Saadi(National Institute for Biotechnology and Genetic Engineering), Aisha M. Al Shamsi(Tawam Hospital), Gözde Yeşil(Bezmiâlem Vakıf Üniversitesi), Christian Beetz(Jena University Hospital), Meisam Babaei(North Khorasan University of Medical Sciences), Matteo P. Ferla(Centre for Human Genetics), Maha Al Shalan(Baghdad Medical City), Shahryar Alavi(National Hospital for Neurology and Neurosurgery), Fuad Al Mutairi(King Saud bin Abdulaziz University for Health Sciences)
Brain
July 30, 2023
Cited by 20


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