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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

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Title: EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Authors: 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., Mohammed S; 47 Department of Clinical Genetics, Guy's Hospital, London, UK., Fanto M; 2 Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK., Gautel M; 6 Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK., Jungbluth H; 1 Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK 6 Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK 48 Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK Heinz.Jungbluth@gstt.nhs.uk.
Source: Brain : a journal of neurology [Brain] 2016 Mar; Vol. 139 (Pt 3), pp. 765-81.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
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            – D: 01
              M: 03
              Text: 2016 Mar
              Type: published
              Y: 2016
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 139
            – Type: issue
              Value: Pt 3
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
ResultId 1