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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A.
Afiliação
  • Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Rad A; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar 009851, Iran.
  • Lin SJ; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.
  • Bertoli-Avella A; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
  • Kallemeijn WW; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.
  • Godwin A; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.
  • Zaki MS; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK.
  • Huang K; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK.
  • Lau T; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.
  • Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
  • Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Karimiani EG; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
  • Hempel M; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Normand EA; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.
  • Rudnik-Schöneborn S; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 1696700, Iran.
  • Schatz UA; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Baggelaar MP; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany.
  • Ilyas M; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.
  • Sultan T; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Alvi JR; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Ganieva M; Institute of Human Genetics, Technical University of Munich, Munich, 81675, Germany.
  • Fowler B; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.
  • Aanicai R; Biomolecular Mass Spectrometry & Proteomics Group, Utrecht University, 3584 CH Utrecht, The Netherlands.
  • Tayfun GA; Department of BioEngineering, University of Engineering and Applied Sciences, 19130 Swat, Pakistan.
  • Al Saman A; Centre for Omic Sciences, Islamia College University, 25000 Peshawar, Pakistan.
  • Alswaid A; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.
  • Amiri N; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.
  • Asilova N; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.
  • Shotelersuk V; Imaging Core, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
  • Yeetong P; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.
  • Azam M; Department of Pediatric Genetics, Marmara University Medical School, 34722 Istanbul, Turkey.
  • Babaei M; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, 49046 Riyadh, Saudi Arabia.
  • Monajemi GB; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdullah Specialized Children's Hospital, Riyadh 11461, Saudi Arabia.
  • Mohammadi P; International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, BC V5Z 1M9, Canada.
  • Samie S; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.
  • Banu SH; Center of Excellence for Medical Genomics, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
  • Pinto Basto J; Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok 10330, Thailand.
  • Kortüm F; Pediatrics and Child Neurology, Wah Medical College, 47000 Wah Cantt, Pakistan.
  • Bauer M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 94149-74877, Iran.
  • Bauer P; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.
  • Beetz C; Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran 1416634793, Iran.
  • Garshasbi M; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.
  • Issa AH; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.
  • Eyaid W; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.
  • Ahmed H; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.
  • Hashemi N; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Hassanpour K; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA.
  • Herman I; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.
  • Ibrohimov S; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.
  • Abdul-Majeed BA; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.
Brain ; 147(4): 1436-1456, 2024 Apr 04.
Article em En | MEDLINE | ID: mdl-37951597
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Microcefalia / Transtornos dos Movimentos / Malformações do Sistema Nervoso Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Microcefalia / Transtornos dos Movimentos / Malformações do Sistema Nervoso Idioma: En Ano de publicação: 2024 Tipo de documento: Article