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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jürgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan.
Affiliation
  • Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.
  • Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.
  • Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.
  • Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Zaki MS; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.
  • Ferla M; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.
  • Tortora D; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
  • Sadeghian S; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK.
  • Saadi SM; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
  • Abdullah U; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Karimiani EG; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.
  • Efthymiou S; University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, 46300 Rawalpindi, Pakistan.
  • Yesil G; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Alavi S; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.
  • Al Shamsi AM; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
  • Tajsharghi H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.
  • Abdel-Hamid MS; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.
  • Saadi NW; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.
  • Al Mutairi F; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE.
  • Alabdi L; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden.
  • Beetz C; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.
  • Ali Z; College of Medicine, University of Baghdad, 10071 Baghdad, Iraq.
  • Toosi MB; Children Welfare Teaching Hospital, 10071 Baghdad, Iraq.
  • Rudnik-Schöneborn S; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.
  • Babaei M; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.
  • Isohanni P; Department of Zoology, College of Science, King Saud University, 11421 Riyadh, Saudi Arabia.
  • Muhammad J; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia.
  • Khan S; Centogene GmbH, 18055 Rostock, Germany.
  • Al Shalan M; Department of Cellular and Molecular Medicine, WJC PANUM, University of Copenhagen, DK-1165 Copenhagen, Denmark.
  • Hickey SE; Centre for Biotechnology and Microbiology, University of Swat, Swat 19120, Pakistan.
  • Marom D; Pediatric Neurology Department Pediatric Ward Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Elhanan E; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
  • Kurian MA; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.
  • Marafi D; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.
  • Saberi A; Department of Child Neurology, Children's Hospital, Paediatric Research Center, University of Helsinki and Helsinki University Hospital, 00014 Helsinki, Finland.
  • Hamid M; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.
  • Spaull R; Centre for Regenerative Medicine and Stem Cell Research, Juma Building, Aga Khan University, Karachi 74800, Pakistan.
  • Meng L; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.
  • Lalani S; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.
  • Maqbool S; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Rahman F; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.
  • Seeger J; Genetics Institute and Genomic Center, Tel Aviv Sourasky Medical Center, and Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.
  • Palculict TB; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.
  • Lau T; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
  • Murphy D; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.
  • Mencacci NE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Steindl K; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait.
  • Begemann A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.
  • Rauch A; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Akbas S; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Brain ; 146(12): 5031-5043, 2023 12 01.
Article in En | MEDLINE | ID: mdl-37517035
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Epilepsy, Generalized / Epilepsy / Neurodevelopmental Disorders / Movement Disorders Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Middle aged Language: En Journal: Brain Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Epilepsy, Generalized / Epilepsy / Neurodevelopmental Disorders / Movement Disorders Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Middle aged Language: En Journal: Brain Year: 2023 Document type: Article Affiliation country: Country of publication: