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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Accogli, Andrea; Zaki, Maha S; Al-Owain, Mohammed; Otaif, Mansour Y; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E; De Goede, Christian G E L; Cora, Tülün; Alvi, Javeria Raza; Eslahi, Atieh; Asl Mohajeri, Mahsa Sadat; Ashtiani, Setareh; Au, P Y Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Mojarrad, Majid; Arab, Fatemeh; Duymus, Fahrettin; Scantlebury, Morris H; Yesil, Gözde; Rosenfeld, Jill Anne; Türkyilmaz, Ayberk; Sager, Safiye Günes; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S; Issa, Mahmoud Y; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H; Gleeson, Joseph G; Striano, Pasquale; Houlden, Henry; Severino, Mariasavina; Maroofian, Reza.
Affiliation
  • Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal H3G 1A4, Canada.
  • Zaki MS; Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.
  • Al-Owain M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
  • Otaif MY; Department of Medical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Jackson A; Department of Pediatric, Neurology Section, Abha Maternity and Childern Hospital, Abha 62521, Saudi Arabia.
  • Argilli E; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
  • Chandler KE; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • De Goede CGEL; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Cora T; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
  • Alvi JR; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Eslahi A; Department of Paediatric Neurology, Clinical Research Facility, Lancashire Teaching Hospital NHS Trust, Preston PR2 9HT, UK.
  • Asl Mohajeri MS; Department of Medical Genetics, Selcuk University School of Medicine, Konya 42100, Turkey.
  • Ashtiani S; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.
  • Au PYB; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.
  • Scocchia A; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9137-86177, Iran.
  • Alakurtti K; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.
  • Pagnamenta AT; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Alberta T2N 4Z6, Canada.
  • Toosi MB; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Alberta T2N 4Z6, Canada.
  • Karimiani EG; Blueprint Genetics Inc, Marlborough, MA 01752, USA.
  • Mojarrad M; Blueprint Genetics Inc, Marlborough, MA 01752, USA.
  • Arab F; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Duymus F; Pediatric Neurology Department, Mashhad University of Medical Sciences, Mashhad 913791-6847, Iran.
  • Scantlebury MH; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 91375-33116, Iran.
  • Yesil G; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Rosenfeld JA; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 91869-51591, Iran.
  • Türkyilmaz A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.
  • Sager SG; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9137-86177, Iran.
  • Sultan T; Genetic Center of Khorasan Razavi, Mashhad 91877-53831, Iran.
  • Ashrafzadeh F; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran 1411713135, Iran.
  • Zahra T; Department of Medical Genetics, Selcuk University School of Medicine, Konya 42100, Turkey.
  • Rahman F; Department of Medical Genetics, Konya City Hospital, Konya 42020, Turkey.
  • Maqbool S; Departments of Pediatrics and Clinical Neuroscience, University of Calgary; Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute & Owerko Center, University of Calgary, Alberta T2N 4N1, Canada.
  • Abdel-Hamid MS; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey.
  • Issa MY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Efthymiou S; Baylor Genetics Laboratories, Houston, TX 77021, USA.
  • Bauer P; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon 61080, Turkey.
  • Zifarelli G; Clinics of Pediatric Neurology, Kartal Dr. Lütfi Kirdar City Hospital, Istanbul 34890, Turkey.
  • Salpietro V; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.
  • Al-Hassnan Z; Pediatric Neurology Department, Mashhad University of Medical Sciences, Mashhad 913791-6847, Iran.
  • Banka S; Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan.
  • Sherr EH; Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan.
  • Gleeson JG; Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan.
  • Striano P; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
  • Houlden H; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
  • Severino M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Maroofian R; CENTOGENE, Rostock 18057, Germany.
Brain Commun ; 5(5): fcad222, 2023.
Article in En | MEDLINE | ID: mdl-37794925
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Brain Commun Year: 2023 Document type: Article
Fulltext
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XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Brain Commun Year: 2023 Document type: Article