OSCR

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

This page is built on request from the registry's record of the paper. The 6,000 most recent papers have a fuller page, built ahead of time, with the Code ↔ Paper reader, the tracing map and its validation, the record's versions, how to cite it and similar papers. This paper is older: its record, its code, its data and the requests about it are below.

Overview

Authors: 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
and 69 other authorsManizha 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
Published: 1 April 2024
Type: Research article
License: CC BY
Institutions: UCL Queen Square Institute of Neurology (United Kingdom), University College London (United Kingdom), Sabzevar University of Medical Sciences (Iran), University of Tübingen (Germany), Oklahoma Medical Research Foundation (United States), Centogene (Germany) (Germany), The Francis Crick Institute (United Kingdom), Imperial College London (United Kingdom), University of Portsmouth (United Kingdom), National Research Centre (Egypt), St George's, University of London (United Kingdom), University Hospital Heidelberg (Germany), University Medical Center Hamburg-Eppendorf (Germany), Innsbruck Medical University (Austria), Institut für Humangenetik (Germany), Technical University of Munich (Germany), Utrecht University (Netherlands), Islamia College University (Pakistan), Tajik State Medical University (Tajikistan), Marmara University (Türkiye), King Fahd Medical City (Saudi Arabia), King Saud bin Abdulaziz University for Health Sciences (Saudi Arabia), University of British Columbia (Canada), International Collaboration On Repair Discoveries (Canada), Chulalongkorn University (Thailand), King Chulalongkorn Memorial Hospital (Thailand), Wah Medical College (Pakistan), North Khorasan University of Medical Sciences (Iran), Tarbiat Modares University (Iran), Children's Medical Center (Iran), Tehran University of Medical Sciences (Iran), Bangladesh Shishu (Children) Hospital & Institute (Bangladesh), Miami Children's Hospital (United States), University of Basrah (Iraq), King Abdulaziz Medical City (Saudi Arabia), King Abdullah International Medical Research Center (Saudi Arabia), National Guard Health Affairs (Saudi Arabia), Mashhad University of Medical Sciences (Iran), Baylor College of Medicine (United States), Boys Town National Research Hospital (United States), Texas Children's Hospital (United States), Hazara University (Pakistan), Clalit Health Services (Israel), University of Mississippi Medical Center (United States), Amsterdam UMC Location University of Amsterdam (Netherlands), Amsterdam University Medical Centers (Netherlands), Centro Hospitalar Lisboa Norte (Portugal), Hospital de Santa Maria (Portugal), University of Freiburg (Germany), Radboud University Medical Center (Netherlands), Technion – Israel Institute of Technology (Israel), Bnai Zion Medical Center (Israel), Newcastle upon Tyne Hospitals NHS Foundation Trust (United Kingdom), Wellcome Centre for Mitochondrial Research (United Kingdom), Newcastle University (United Kingdom), Meyer Children's Hospital (Italy), University of Exeter (United Kingdom), Columbia University Irving Medical Center (United States), University of Florence (Italy), University of California San Diego (United States), Rady Children's Institute for Genomic Medicine (United States), Nottingham University Hospitals NHS Trust (United Kingdom), Universitätsmedizin Göttingen (Germany), Istituto Giannina Gaslini (Italy)

Code

The paper links to its data and to no code of its authors: see the Data section.

Data

Datasets cited

Contribute

The authors of this paper can claim it and correct its record, and the maintainers of its code (its owner, or a public member of its organization) correct what it says of their repository; anyone signed in can ask for its removal. Every request goes to the registry's own machine, which answers it; your account page follows them.

Sign in with ORCID to claim this paper as one of its authors or correct its record: when the paper's metadata lists your ORCID iD, you are recognized at once. Maintainers of its code: sign in with GitHub, then claim the repository on your account page.

Request its removal

To ask for this record, the copies of its authors' scripts or its tracing map to be removed, use the removal request page: signed in, you say who you are, what to remove and why, then review and confirm the request. Published rules decide every request (how).