A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Elisa Calì(National Hospital for Neurology and Neurosurgery), Salman Kirmani(Aga Khan University), Savvas Papacostas(Cyprus Institute of Neurology and Genetics), Andrea Cortese(University of Pavia), Michael G. Hannah, Sniya Sudhakar(Great Ormond Street Hospital for Children NHS Foundation Trust), Gabriella Di Rosa(University of Messina), Alessandra Piccirilli(University of L'Aquila), Viorica Chelban(National Hospital for Neurology and Neurosurgery), Barbara Garavaglia, Shazia Maqbool, Rauan Kaiyrzhanov(Tufts University), M. Aguennouz(University of Messina), Alfons Macaya Ruiz, Stéphanie Efthymiou(Queen Mary University of London), Chiara Compagnoni(University of L'Aquila), Alberto Verrotti(University of Perugia), Sheng‐Jia Lin(Oklahoma Medical Research Foundation), Shahnaz Ibrahim(Aga Khan University Hospital), Roisin Sullivan(National Hospital for Neurology and Neurosurgery), Clarissa Rocca(Institute of Human Genetics), David Murphy(National Hospital for Neurology and Neurosurgery), Salvatore Savasta(University of Cagliari), Hadil Kathom, Yavuz Şahin(Medical Genetics Center), Alkyoni Athanasiou‐Fragkouli(National Hospital for Neurology and Neurosurgery), Stanislav Groppa(National Hospital for Neurology and Neurosurgery), Jatinder S. Goraya(Centogene (Germany)), Salima El Chehadeh(Inserm), Radka Tincheva(National Hospital for Neurology and Neurosurgery), Kshitij Mankad(Great Ormond Street Hospital for Children NHS Foundation Trust), Nejat Narlı(Cukurova University), Eugenia Borgione(Oasi Maria SS), Pierangelo Veggiotti(University of Pavia), Francisco Martins De Carvalho Moreira(National Hospital for Neurology and Neurosurgery), Selina Banu(National Hospital for Neurology and Neurosurgery), Evangelia Galanaki(National Hospital for Neurology and Neurosurgery), Enrico Bugiardini, Tipu Sultan(Cukurova University), Blagovesta Marinova Karashova(Universidade Federal de Pernambuco), Michail Vikelis, Eleni Zamba Papanicolaou, Daniela Avdjieva, Myriam Châabouni(Tunis University), Aisha Al Shamsi(Tawam Hospital), Tamer Çelik(Adana Science and Technology University), Sebastiano Bianca(Institute for Macromolecular Studies), M. El Khorassani(Hospital Fatuma Bourguiba Monastir), Yamna Kriouile
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