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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

  • Rauan Kaiyrzhanov
  • , Aboulfazl Rad
  • , Sheng Jia Lin
  • , Aida Bertoli-Avella
  • , Wouter W. Kallemeijn
  • , Annie Godwin
  • , Maha S. Zaki
  • , Kevin Huang
  • , Tracy Lau
  • , Cassidy Petree
  • , Stephanie Efthymiou
  • , Ehsan Ghayoor Karimiani
  • , Maja Hempel
  • , Elizabeth A. Normand
  • , Sabine Rudnik-Schöneborn
  • , Ulrich A. Schatz
  • , Marc P. Baggelaar
  • , Muhammad Ilyas
  • , Tipu Sultan
  • , Javeria Raza Alvi
    • Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A. Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W. Taylor, Dayana Vazquez, Annalisa Vetro, Hans R. Waterham, Mashaya Zaman, Tina A. Schrader, Wendy K. Chung, Renzo Guerrini, James R. Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P. Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W. Tate, Gaurav K. Varshney, Henry Houlden, Reza Maroofian
  • University College London
  • Sabzevar University of Medical Sciences
  • University of Tübingen
  • Oklahoma Medical Research Foundation
  • Centogene AG
  • Imperial College London
  • The Francis Crick Institute
  • University of Portsmouth
  • National Research Center
  • St. George's University of London
  • Next Generation Genetic Polyclinic
  • University of Hamburg
  • Heidelberg University 
  • OPKO Health, Inc.
  • Innsbruck Medical University
  • Technical University of Munich
  • Utrecht University
  • University of Engineering and Applied Sciences
  • Islamia College Peshawar
  • Children's Hospital Lahore
  • Avicenna Tajik State Medical University
  • Marmara University
  • King Fahad Medical City
  • King Saud bin Abdulaziz University for Health Sciences
  • University of British Columbia
  • King Chulalongkorn Memorial Hospital
  • Chulalongkorn University
  • Wah Medical College
  • North Khorasan University of Medical Sciences
  • Iran University of Medical Sciences
  • Tehran University of Medical Sciences
  • Tarbiat Modarres University
  • Institute of Child and Mother Health
  • Nicklas Children's Hospital
  • University of Basrah
  • King Abdulaziz Medical City - Riyadh
  • Mashhad University of Medical Sciences
  • Baylor College of Medicine
  • Texas Children's Hospital Houston
  • Boys Town National Research Hospital
  • Molecular Pathology and Genetics
  • Hazara University
  • Clalit Health Care
  • University of Mississippi
  • Academic Medical Center
  • Centro Universitario Estácio de Ribeirão Preto
  • Centro Hospitalar Universitário Lisboa Norte
  • University of Freiburg
  • Radboud University Nijmegen
  • Bnai-Zion Medical Center
  • Technion-Israel Institute of Technology
  • Newcastle University
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Azienda Ospedaliero Universitaria Meyer
  • University of Exeter
  • Columbia University
  • University of Florence
  • University of California at San Diego
  • Rady Children's Institute for Genomic Medicine
  • Nottingham University Hospitals NHS Trust
  • University of Oxford
  • University of Göttingen
  • IRCCS Istituto Giannina Gaslini - Genova

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

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Neuroscience