OSCR

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

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Authors: Yuji Nakamura, Issei S Shimada, Reza Maroofian, Micol Falabella, Maha S Zaki, Masanori Fujimoto, Emi Sato, Hiroshi Takase, Shiho Aoki, Akihiko Miyauchi, Eriko Koshimizu, Satoko Miyatake, Yuko Arioka, Mizuki Honda, Takayoshi Higashi, Fuyuki Miya, Yukimune Okubo, Isamu Ogawa, Annarita Scardamaglia, Mohammad Miryounesi
and 43 other authorsSahar Alijanpour, Farzad Ahmadabadi, Peter Herkenrath, Hormos Salimi Dafsari, Clara Velmans, Mohammed Al Balwi, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Médéric Jeanne, Antoine Civit, Mohamed S Abdel-Hamid, Hamed Naderi, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Christopher J Carroll, Ehsan Ghayoor Karimiani, Rozhgar A Khailany, Talib Adil Abdulqadir, Mehmet Ozaslan, Peter Bauer, Giovanni Zifarelli, Tahere Seifi, Mina Zamani, Chadi Al Alam, Javeria Raza Alvi, Tipu Sultan, Stephanie Efthymiou, Simon A S Pope, Kazuhiro Haginoya, Tamihide Matsunaga, Hitoshi Osaka, Naomichi Matsumoto, Norio Ozaki, Yasuyuki Ohkawa, Shinya Oki, Tatsuhiko Tsunoda, Robert D S Pitceathly, Yoshitaka Taketomi, Henry Houlden, Makoto Murakami, Yoichi Kato, Shinji Saitoh
Published: 1 November 2024
Type: Research article
License: CC BY-NC
Institutions: Nagoya City University (Japan), UCL Queen Square Institute of Neurology (United Kingdom), University College London (United Kingdom), National Research Centre (Egypt), Jichi Medical University (Japan), Yokohama City University (Japan), Yokohama City University Hospital (Japan), Nagoya University (Japan), Hiroshima University (Japan), Kyoto University (Japan), Center for Disease Biology and Integrative Medicine, The University of Tokyo (Japan), The University of Tokyo (Japan), Keio University (Japan), Miyagi Children's Hospital (Japan), Shahid Beheshti University (Iran), Shahid Beheshti University of Medical Sciences (Iran), University of Cologne (Germany), University Hospital Cologne (Germany), Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (Germany), Max Planck Institute for Biology of Ageing (Germany), King Saud bin Abdulaziz University for Health Sciences (Saudi Arabia), National Guard Health Affairs (Saudi Arabia), Inserm (France), Université de Bourgogne (France), CHU Dijon Bourgogne (France), Centre de recherche Translationnelle en Médecine moléculaire (France), Université de Tours (France), Imaging, Brain, and Neuropsychiatry (France), Centre Hospitalier Universitaire de Tours (France), Golestan University of Medical Sciences (Iran), Barrow Neurological Institute (United States), Phoenix Children's Hospital (United States), University of Arizona College of Medicine- Phoenix (United States), St George's, University of London (United Kingdom), Hawler Medical University (Iraq), Gaziantep University (Türkiye), Centogene (Germany) (Germany), Shahid Chamran University of Ahvaz (Iran), University of Child Health Sciences (Pakistan), National Hospital for Neurology and Neurosurgery (United Kingdom), Kyushu University (Japan), Medical Institute of Bioregulation, Kyushu University (Japan), Institute of Resource Development and Analysis, Kumamoto University (Japan), Kumamoto University (Japan), RIKEN Center for Integrative Medical Sciences (Japan), National Health Service (United Kingdom)

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