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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G W; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kölker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Manchester, David; Boyer, Philip J; Manzur, Adnan Y; Lourenco, Charles Marques; Pilz, Daniela T; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K; Rogers, R Curtis; Ryan, Monique M; Brown, Natasha J; McLean, Catriona A; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A; Zenker, Martin.
  • Byrne S; 1 Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK.
  • Jansen L; 2 Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK.
  • U-King-Im JM; 3 Department of Neuroradiology, Evelina's Children Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK.
  • Siddiqui A; 3 Department of Neuroradiology, Evelina's Children Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK.
  • Lidov HG; 4 Department of Pathology, Boston Children's Hospital, Boston MA 02115, USA.
  • Bodi I; 5 Department of Clinical Neuropathology, King's College Hospital, London, UK.
  • Smith L; 6 Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK.
  • Mein R; 7 Viapath, Guy's Hospital, London, UK.
  • Cullup T; 8 Regional Molecular Genetics Laboratory, Great Ormond Street Hospital, London, UK.
  • Dionisi-Vici C; 9 Division of Metabolism, Department of Paediatric Medicine, Bambino Gesù Children's Research Hospital, Rome.
  • Al-Gazali L; 10 Departments of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, UAE.
  • Al-Owain M; 11 College of Medicine, Alfaisal University, Riyadh, Saudi Arabia 12 Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Bruwer Z; 13 Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
  • Al Thihli K; 13 Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
  • El-Garhy R; 14 Ain Shams University Hospital, Egypt, Cairo.
  • Flanigan KM; 15 Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Manickam K; 16 Center for Human and Molecular Genetics at The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Zmuda E; 16 Center for Human and Molecular Genetics at The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Banks W; 16 Center for Human and Molecular Genetics at The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Gershoni-Baruch R; 17 Institute of Human Genetics, Rambam Health Care Campus and the Technion Faculty of Medicine, Haifa, Israel.
  • Mandel H; 18 Metabolic Disease Unit, Meyer Children's Hospital, Rambam Health Care Campus and the Technion Faculty of Medicine, Haifa, Israel.
  • Dagan E; 19 Department of Nursing, University of Haifa, Haifa, Israel.
  • Raas-Rothschild A; 20 Institute of Rare Diseases, Institute of Genetics; Sheba Medical Centre, Tel Hashomer and the Sackler school of Medicine Tel Aviv University Ramat Aviv, Israel.
  • Barash H; 20 Institute of Rare Diseases, Institute of Genetics; Sheba Medical Centre, Tel Hashomer and the Sackler school of Medicine Tel Aviv University Ramat Aviv, Israel.
  • Filloux F; 21 Division of Pediatric Neurology, University of Utah School of Medicine and Primary Children's Medical Centre, Salt Lake City, Utah, USA.
  • Creel D; 22 University of Utah School of Medicine, Moran Eye Centre, Salt Lake City, Utah, USA.
  • Harris M; 23 Innovation Center for Biomedical Informatics, Georgetown University Medical Center, Washington DC, USA.
  • Hamosh A; 24 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA.
  • Kölker S; 25 Division of Child Neurology and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
  • Ebrahimi-Fakhari D; 25 Division of Child Neurology and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
  • Hoffmann GF; 25 Division of Child Neurology and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
  • Manchester D; 26 Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, USA.
  • Boyer PJ; 27 Department of Pathology, East Carolina University, Brody School of Medicine, Brody Medical Sciences Building, Greenville, NC 27834, USA.
  • Manzur AY; 28 Dubowitz Neuromuscular Centre, ICH, London, UK.
  • Lourenco CM; 29 Medical Genetics Unit, School of Medicine of Ribeirao Preto, University of Sao Paulo.
  • Pilz DT; 30 Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Kamath A; 30 Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Prabhakar P; 31 Department of Paediatric Neurology, Great Ormond Street Children's Hospital, London, UK.
  • Rao VK; 32 University of Nebraska Medical Center and Childrens Hospital and Medical Center, Omaha, Nebraska, USA.
  • Rogers RC; 33 Greenwood Genetic Center, Greenville, South Carolina, USA.
  • Ryan MM; 34 Departments of Neurology, Royal Children's Hospital and Paediatrics, University of Melbourne, and Murdoch Childrens Research Institute, Melbourne Australia.
  • Brown NJ; 35 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute Parkville, Australia 36 Department of Paediatrics, University of Melbourne, Parkville, Australia 37 Department of Clinical Genetics, Austin Health, Australia.
  • McLean CA; 38 Department of Anatomical Pathology, Alfred Health, Australia.
  • Said E; 39 Department of Anatomy and Cell Biology, University of Malta, Msida, Malta 40 Section of Medical Genetics, Mater dei Hospital, Msida, Malta.
  • Schara U; 41 Pediatric Neurology, University Childrens Hospital, University of Duisburg-Essen University of Duisburg-Essen, Essen, Germany.
  • Stein A; 42 Department of Neonatology, University Childrens Hospital, University of Duisburg-Essen, Essen, Germany.
  • Sewry C; 43 Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, UK.
  • Travan L; 44 Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy.
  • Wijburg FA; 45 Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Zenker M; 46 Institute of Human Genetics, University Hospital Magdeburg, Germany.
Brain ; 139(Pt 3): 765-81, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26917586
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Autofagia / Catarata / Proteínas / Agenesia del Cuerpo Calloso / Trastornos del Neurodesarrollo Tipo de estudio: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Child, preschool / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Autofagia / Catarata / Proteínas / Agenesia del Cuerpo Calloso / Trastornos del Neurodesarrollo Tipo de estudio: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Child, preschool / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article