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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Perenthaler, Elena; Nikoncuk, Anita; Yousefi, Soheil; Berdowski, Woutje M; Alsagob, Maysoon; Capo, Ivan; van der Linde, Herma C; van den Berg, Paul; Jacobs, Edwin H; Putar, Darija; Ghazvini, Mehrnaz; Aronica, Eleonora; van IJcken, Wilfred F J; de Valk, Walter G; Medici-van den Herik, Evita; van Slegtenhorst, Marjon; Brick, Lauren; Kozenko, Mariya; Kohler, Jennefer N; Bernstein, Jonathan A; Monaghan, Kristin G; Begtrup, Amber; Torene, Rebecca; Al Futaisi, Amna; Al Murshedi, Fathiya; Mani, Renjith; Al Azri, Faisal; Kamsteeg, Erik-Jan; Mojarrad, Majid; Eslahi, Atieh; Khazaei, Zaynab; Darmiyan, Fateme Massinaei; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Vandrovcova, Jana; Zafar, Faisal; Rana, Nuzhat; Kandaswamy, Krishna K; Hertecant, Jozef; Bauer, Peter; AlMuhaizea, Mohammed A; Salih, Mustafa A; Aldosary, Mazhor; Almass, Rawan; Al-Quait, Laila; Qubbaj, Wafa; Coskun, Serdar; Alahmadi, Khaled O; Hamad, Muddathir H A; Alwadaee, Salem.
Afiliação
  • Perenthaler E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Yousefi S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Berdowski WM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Capo I; Department for Histology and Embryology, Faculty of Medicine Novi Sad, University of Novi Sad, Novi Sad, Serbia.
  • van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • van den Berg P; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Jacobs EH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Putar D; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Ghazvini M; iPS Cell Core Facility, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Aronica E; Department of (Neuro)Pathology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • van IJcken WFJ; Stichting Epilepsie Instellingen Nederland (SEIN), Zwolle, The Netherlands.
  • de Valk WG; Center for Biomics, Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Medici-van den Herik E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • van Slegtenhorst M; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Brick L; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Kozenko M; Division of Genetics, McMaster Children's Hospital, Hamilton, ON, L8S 4J9, Canada.
  • Kohler JN; Division of Genetics, McMaster Children's Hospital, Hamilton, ON, L8S 4J9, Canada.
  • Bernstein JA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, 94035, USA.
  • Monaghan KG; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 94035, USA.
  • Begtrup A; GeneDx, Gaithersburg, MD, 20877, USA.
  • Torene R; GeneDx, Gaithersburg, MD, 20877, USA.
  • Al Futaisi A; GeneDx, Gaithersburg, MD, 20877, USA.
  • Al Murshedi F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Mani R; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al Azri F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Kamsteeg EJ; Department of Radiology and Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman.
  • Mojarrad M; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Eslahi A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Khazaei Z; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Darmiyan FM; Genetic Center of Khorasan Razavi, Mashhad, Iran.
  • Doosti M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Karimiani EG; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Vandrovcova J; Genetic Center of Khorasan Razavi, Mashhad, Iran.
  • Zafar F; Genetic Counseling Center, Welfare Organization of Sistan and Baluchestan, Zahedan, Iran.
  • Rana N; Department Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Kandaswamy KK; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, SW17 0RE, UK.
  • Hertecant J; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
  • Bauer P; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • AlMuhaizea MA; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, 60000, Pakistan.
  • Salih MA; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, 60000, Pakistan.
  • Aldosary M; CENTOGENE AG, Rostock, Germany.
  • Almass R; Department of Pediatrics, Tawam Hospital, and College of Medicine and Health Sciences, UAE University, Al-Ain, UAE.
  • Al-Quait L; CENTOGENE AG, Rostock, Germany.
  • Qubbaj W; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Coskun S; Neurology Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, 11461, Kingdom of Saudi Arabia.
  • Alahmadi KO; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Hamad MHA; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Alwadaee S; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Kingdom of Saudi Arabia.
Acta Neuropathol ; 139(3): 415-442, 2020 03.
Article em En | MEDLINE | ID: mdl-31820119
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Genes Essenciais / Síndromes Epilépticas / UTP-Glucose-1-Fosfato Uridililtransferase Tipo de estudo: Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Acta Neuropathol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Genes Essenciais / Síndromes Epilépticas / UTP-Glucose-1-Fosfato Uridililtransferase Tipo de estudo: Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Acta Neuropathol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda