Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Barwick KES"'
Autor:
Steel, D, Zech, M, Zhao, C, Barwick, KES, Burke, D, Demailly, D, Kumar, KR, Zorzi, G, Nardocci, N, Kaiyrzhanov, R, Wagner, M, Iuso, A, Berutti, R, Škorvánek, M, Necpál, J, Davis, R, Wiethoff, S, Mankad, K, Sudhakar, S, Ferrini, A, Sharma, S, Kamsteeg, E-J, Tijssen, MA, Verschuuren, C, van Egmond, ME, Flowers, JM, McEntagart, M, Tucci, A, Coubes, P, Bustos, BI, Gonzalez-Latapi, P, Tisch, S, Darveniza, P, Gorman, KM, Peall, KJ, Bötzel, K, Koch, JC, Kmieć, T, Plecko, B, Boesch, S, Haslinger, B, Jech, R, Garavaglia, B, Wood, N, Houlden, H, Gissen, P, Lubbe, SJ, Sue, CM, Cif, L, Mencacci, NE, Anderson, G, Kurian, MA, Winkelmann, J, Genomics England Research Consortium
OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses. METHODS: We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e01c3c009fa656fa2127e5a51b7048f4
https://openaccess.sgul.ac.uk/id/eprint/112563/1/ana.25879.pdf
https://openaccess.sgul.ac.uk/id/eprint/112563/1/ana.25879.pdf
Autor:
Goodman LD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Nil Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Ravenscroft TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Tien AC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, the Netherlands., Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands., Wassink-Ruiter JSK; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands., Wevers MR; Department of Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands., Jones M; Houston Area Pediatric Neurology, 24514 Kingsland Blvd, Katy, TX 77494, USA., Walsh LE; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA., Klee VH; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA., Theunis M; Center for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium., Legius E; Department of Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium., Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK., Barwick KES; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK., Mohammad SS; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia., Dale RC; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia., Terhal PA; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands., Kirmse B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Robinette B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Cogné B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France., Isidor B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France., Grebe TA; Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Department of Child Health, University of Arizona College of Medicine Phoenix, Phoenix, AZ 85004, USA., Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Hainline BE; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Sapp K; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Trapane P; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA., Spencer C; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA., Si Y; GeneDx, Gaithersburg, MD 20877, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Moulton MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu., Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. Electronic address: khoon.tan@duke.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1669-1691. Date of Electronic Publication: 2021 Jul 26.
Autor:
Steel D; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Zhao C; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Barwick KES; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK., Burke D; Enzyme Laboratory, Great Ormond Street Hospital for Children, London, UK., Demailly D; Unités des Pathologies Cérébrales Résistantes, Département de Neurochirurgie, Centre Hospitalier Universitaire, Montpellier, France., Kumar KR; Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Sydney, New South Wales, Australia.; Department of Neurogenetics, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia., Zorzi G; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Nardocci N; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK., Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Iuso A; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Berutti R; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Škorvánek M; Department of Neurology, P. J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Necpál J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia., Davis R; Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Sydney, New South Wales, Australia.; Department of Neurogenetics, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia., Wiethoff S; UCL Queen Square Institute of Neurology, London, UK.; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen, Tübingen, Germany., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, UK., Sudhakar S; Department of Radiology, Great Ormond Street Hospital for Children, London, UK., Ferrini A; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK., Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Tijssen MA; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Verschuuren C; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van Egmond ME; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands., Flowers JM; Department of Neurology, St. George's Hospital, London, UK., McEntagart M; Department of Clinical Genetics, St. George's Hospital, London, UK., Tucci A; Genomics England, London, UK., Coubes P; Unités des Pathologies Cérébrales Résistantes, Département de Neurochirurgie, Centre Hospitalier Universitaire, Montpellier, France., Bustos BI; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Gonzalez-Latapi P; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Tisch S; Department of Neurology, St. Vincent's Hospital, Sydney, Australia., Darveniza P; Department of Neurology, St. Vincent's Hospital, Sydney, Australia., Gorman KM; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland., Peall KJ; University of Cardiff, Cardiff, Wales, UK., Bötzel K; Department of Neurology, Ludwig Maximilian University, Munich, Germany., Koch JC; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany., Kmieć T; Department of Neurology and Epileptology, Children's Memorial Health Institute, Warsaw, Poland., Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria., Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Haslinger B; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany., Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic., Garavaglia B; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Wood N; UCL Queen Square Institute of Neurology, London, UK., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK., Gissen P; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Lubbe SJ; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Sue CM; Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Sydney, New South Wales, Australia.; Department of Neurogenetics, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, New South Wales, Australia., Cif L; Unités des Pathologies Cérébrales Résistantes, Département de Neurochirurgie, Centre Hospitalier Universitaire, Montpellier, France., Mencacci NE; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Anderson G; Department of Histopathology, Great Ormond Street Hospital for Children, London, UK., Kurian MA; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, Munich, Germany.
Publikováno v:
Annals of neurology [Ann Neurol] 2020 Nov; Vol. 88 (5), pp. 867-877. Date of Electronic Publication: 2020 Sep 21.
Autor:
Salter CG; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Beijer D; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Hardy H; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Barwick KES; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Bower M; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Mademan I; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., De Jonghe P; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Deconinck T; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Russell MA; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., McEntagart MM; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Chioza BA; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Blakely RD; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Chilton JK; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., De Bleecker J; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Baets J; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Baple EL; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Walk D; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom., Crosby AH; RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2018 Mar 23; Vol. 4 (2), pp. e222. Date of Electronic Publication: 2018 Mar 23 (Print Publication: 2018).
Autor:
Wang H; University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50937 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany., Salter CG; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK., Refai O; Department of Biomedical Science, Charles E. Schmidt College of Medicine and Brain Institute, Florida Atlantic University, Jupiter, FL, USA., Hardy H; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Barwick KES; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Akpulat U; University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50937 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.; Kastamonu University, 37150 Kastamonu, Turkey., Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden., Chioza BA; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Harlalka G; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet Science Park, 17121 Stockholm, Sweden., Sejersen T; Science for Life Laboratory, Karolinska Institutet Science Park, 17121 Stockholm, Sweden.; Department of Women's and Children's Health, Division of Pediatric Neurology, Karolinska Institutet, 17176 Stockholm, Sweden., Wright J; Department of Pharmacology, Vanderbilt University, Nashville, TN, USA., Zimmerman HH; Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA., Karakaya M; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany., Stüve B; Children's Hospital Social Pediatric Center, 50735 Cologne, Germany., Weis J; Institute of Neuropathology and Jülich Aachen Research Alliance (JARA) Brain Translational Medicine, RWTH Aachen University, 52074 Aachen, Germany., Schara U; University Children's Hospital Essen, Essen, Germany., Russell MA; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Abdul-Rahman OA; Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA., Chilton J; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Blakely RD; Department of Biomedical Science, Charles E. Schmidt College of Medicine and Brain Institute, Florida Atlantic University, Jupiter, FL, USA., Baple EL; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Cirak S; University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50937 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany., Crosby AH; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2017 Nov 01; Vol. 140 (11), pp. 2838-2850.
Autor:
van den Bruck R; Department of Paediatrics, HELIOS Medical Centre Wuppertal, Centre for Clinical and Translational Research (CCTR), Witten/Herdecke University Hospital, Centre for Biomedical Education and Research (ZBAF), Wuppertal, Germany., Weil PP; Department of Paediatrics, HELIOS Medical Centre Wuppertal, Centre for Clinical and Translational Research (CCTR), Witten/Herdecke University Hospital, Centre for Biomedical Education and Research (ZBAF), Wuppertal, Germany., Ziegenhals T; Chair of Biochemistry, Theodor-Boveri-Institute at the Biocenter, University of Würzburg, Würzburg, Germany., Schreiner P; Chair of Biochemistry, Theodor-Boveri-Institute at the Biocenter, University of Würzburg, Würzburg, Germany., Juranek S; Chair of Biochemistry, Theodor-Boveri-Institute at the Biocenter, University of Würzburg, Würzburg, Germany., Gödde D; Molecular Pathology Department, HELIOS Medical Centre Wuppertal, Witten/Herdecke University Hospital, Wuppertal, Germany., Vogel S; Molecular Pathology Department, HELIOS Medical Centre Wuppertal, Witten/Herdecke University Hospital, Wuppertal, Germany., Schuster F; Department of Plastic, Reconstructive, Aesthetic and Hand Surgery, HELIOS Medical Centre Wuppertal, Witten/Herdecke University Hospital, Wuppertal, Germany., Orth V; Department of Surgery II, HELIOS Medical Centre Wuppertal, Witten/Herdecke University Hospital, Wuppertal, Germany., Dörner J; Department of Surgery II, HELIOS Medical Centre Wuppertal, Witten/Herdecke University Hospital, Wuppertal, Germany., Pembaur D; Department of Paediatrics, HELIOS Medical Centre Wuppertal, Centre for Clinical and Translational Research (CCTR), Witten/Herdecke University Hospital, Centre for Biomedical Education and Research (ZBAF), Wuppertal, Germany., Röper M; Department of Paediatrics, HELIOS Medical Centre Wuppertal, Centre for Clinical and Translational Research (CCTR), Witten/Herdecke University Hospital, Centre for Biomedical Education and Research (ZBAF), Wuppertal, Germany., Störkel S; Molecular Pathology Department, HELIOS Medical Centre Wuppertal, Witten/Herdecke University Hospital, Wuppertal, Germany., Zirngibl H; Department of Surgery II, HELIOS Medical Centre Wuppertal, Witten/Herdecke University Hospital, Wuppertal, Germany., Wirth S; Department of Paediatrics, HELIOS Medical Centre Wuppertal, Centre for Clinical and Translational Research (CCTR), Witten/Herdecke University Hospital, Centre for Biomedical Education and Research (ZBAF), Wuppertal, Germany., Jenke ACW; Department of Paediatrics, HELIOS Medical Centre Wuppertal, Centre for Clinical and Translational Research (CCTR), Witten/Herdecke University Hospital, Centre for Biomedical Education and Research (ZBAF), Wuppertal, Germany., Postberg J; Department of Paediatrics, HELIOS Medical Centre Wuppertal, Centre for Clinical and Translational Research (CCTR), Witten/Herdecke University Hospital, Centre for Biomedical Education and Research (ZBAF), Wuppertal, Germany., Boy N; Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Heringer J; Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Haege G; Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Glahn EM; Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Hoffmann GF; Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Garbade SF; Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Burgard P; Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Kölker S; Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Chao CM; Excellence Cluster Cardio-Pulmonary System, Gießen, Germany.; Department for General Pediatrics and Neonatology, University Children's Hospital, Gießen, Germany.; German Center for Lung Research (DZL), Gießen, Germany., Yahya F; Excellence Cluster Cardio-Pulmonary System, Gießen, Germany.; German Center for Lung Research (DZL), Gießen, Germany., Moiseenko A; Excellence Cluster Cardio-Pulmonary System, Gießen, Germany.; German Center for Lung Research (DZL), Gießen, Germany., Shrestha A; Excellence Cluster Cardio-Pulmonary System, Gießen, Germany.; German Center for Lung Research (DZL), Gießen, Germany., Ahmadvand N; Excellence Cluster Cardio-Pulmonary System, Gießen, Germany.; German Center for Lung Research (DZL), Gießen, Germany., Quantius J; Excellence Cluster Cardio-Pulmonary System, Gießen, Germany.; German Center for Lung Research (DZL), Gießen, Germany., Wilhelm J; Excellence Cluster Cardio-Pulmonary System, Gießen, Germany.; German Center for Lung Research (DZL), Gießen, Germany., El-Agha E; Excellence Cluster Cardio-Pulmonary System, Gießen, Germany.; German Center for Lung Research (DZL), Gießen, Germany., Zimmer KP; Department for General Pediatrics and Neonatology, University Children's Hospital, Gießen, Germany., Bellusci S; Excellence Cluster Cardio-Pulmonary System, Gießen, Germany.; German Center for Lung Research (DZL), Gießen, Germany., Staufner C; Department of General Pediatrics, University Children's Hospital, University Hospital Heidelberg, 69120, Heidelberg, Germany., Kölker S; Department of General Pediatrics, University Children's Hospital, University Hospital Heidelberg, 69120, Heidelberg, Germany., Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, 85764, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, 81675, Munich, Germany., Hoffmann GF; Department of General Pediatrics, University Children's Hospital, University Hospital Heidelberg, 69120, Heidelberg, Germany., Seeliger S; Department of Pediatric Cardiology, Intensive Care and Neonatology, University Hospital Goettingen, 37075, Goettingen, Germany.; Clinics for children and adolescents, 86633, Neuburg/Donau, Germany., Müller M; Department of Pediatric Cardiology, Intensive Care and Neonatology, University Hospital Goettingen, 37075, Goettingen, Germany., Hippe A; Department of Dermatology, Heinrich Heine University, 40225, Duesseldorf, Germany., Steinkraus H; Department of Anesthesiology, MSP, Surgical Intensive Care Medicine, University Hospital, Charité, Campus Virchow Clinic, 13353, Berlin, Germany., Wauer R; Department of Neonatology, Charité, University of Medicine, 10098, Berlin, Germany., Lachmann B; Department of Anesthesiology, MSP, Surgical Intensive Care Medicine, University Hospital, Charité, Campus Virchow Clinic, 13353, Berlin, Germany., Hofmann SR; Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, TU Dresden, Dresden, Germany., Hedrich CM; Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, TU Dresden, Dresden, Germany., Zierk J; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany., Arzideh F; Department of Statistics, University of Bremen, Bremen, Germany., Haeckel R; Bremer Zentrum für Laboratoriumsmedizin, Klinikum Bremen Mitte, Bremen, Germany., Rascher W; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany., Rauh M; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany., Metzler M; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany., Thieme S; Department of Pediatrics, University Clinic Dresden, Dresden, Germany., Bandoła J; Department of Pediatrics, University Clinic Dresden, Dresden, Germany., Richter C; Department of Pediatrics, University Clinic Dresden, Dresden, Germany., Ryser M; Department of Pediatrics, University Clinic Dresden, Dresden, Germany., Jamal A; Department of Pediatrics, University Clinic Dresden, Dresden, Germany., Ashton MP; DFG-Center for Regenerative Therapies Dresden, Cluster of Excellence, Technische Universitaet Dresden, Dresden, Germany., von Bonin M; Medical Clinic I, University Clinic Dresden, Dresden, Germany.; DKTK-German Cancer Consortium, Partner Site Dresden, University Clinic Dresden, Dresden, Germany.; DKFZ-German Cancer Research Center, Heidelberg, Germany., Kuhn M; Institute for Medical Informatics and Biometry, Faculty of Medicine, Technische Universitaet Dresden, Dresden, Germany., Hedrich CM; Department of Pediatrics, University Clinic Dresden, Dresden, Germany., Bonifacio E; DFG-Center for Regenerative Therapies Dresden, Cluster of Excellence, Technische Universitaet Dresden, Dresden, Germany., Berner R; Department of Pediatrics, University Clinic Dresden, Dresden, Germany., Brenner S; Department of Pediatrics, University Clinic Dresden, Dresden, Germany.; DFG-Center for Regenerative Therapies Dresden, Cluster of Excellence, Technische Universitaet Dresden, Dresden, Germany., Hammersen J; Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany., Has C; Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany., Naumann-Bartsch N; Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany., Stachel D; Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany., Kiritsi D; Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany., Söder S; Department of Pathology, University Hospital Erlangen, Erlangen, Germany., Tardieu M; Dermatologie Pédiatrique, University Hospital Grenoble, Grenoble, France., Metzler M; Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany., Bruckner-Tuderman L; Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany., Schneider H; Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany., Bohne F; Centre for Paediatrics and Adolescent Medicine, University Medical Centre, Langenbeckstr. 1, 55101, Mainz, Germany., Langer D; Centre for Paediatrics and Adolescent Medicine, University Medical Centre, Langenbeckstr. 1, 55101, Mainz, Germany., Cencic R; Department of Biochemistry and The Rosalind and Morris Goodman Cancer Research; Centre, McGill University, Montreal, Quebec, H3G 1Y6, Canada., Eggermann T; Institute of Human Genetics, RWTH Aachen, Pauwelsstr. 30, 52074, Aachen, Germany., Zechner U; Institute of Human Genetics, University Medical Centre, Langenbeckstr. 1, 55101, Mainz, Germany., Pelletier J; Department of Biochemistry and The Rosalind and Morris Goodman Cancer Research; Centre, McGill University, Montreal, Quebec, H3G 1Y6, Canada., Zepp F; Centre for Paediatrics and Adolescent Medicine, University Medical Centre, Langenbeckstr. 1, 55101, Mainz, Germany., Enklaar T; Centre for Paediatrics and Adolescent Medicine, University Medical Centre, Langenbeckstr. 1, 55101, Mainz, Germany., Prawitt D; Centre for Paediatrics and Adolescent Medicine, University Medical Centre, Langenbeckstr. 1, 55101, Mainz, Germany., Pech M; University Medical Center Schleswig-Holstein, Division Pediatric Pneumology & Allergology, Campus Lübeck, Lübeck, Germany.; Airway Research Center North (ARCN), Member of of the German Center of Lung Research (DZL), Borstel, Germany., Weckmann M; University Medical Center Schleswig-Holstein, Division Pediatric Pneumology & Allergology, Campus Lübeck, Lübeck, Germany.; Airway Research Center North (ARCN), Member of of the German Center of Lung Research (DZL), Borstel, Germany., Heinsen FA; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany., Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany., Happle C; Hannover Medical School, Department of Pediatric Pneumology, Allergology and Neonatology, Hannover, Germany.; Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), Member of of the German Center of Lung Research (DZL), Hannover, Germany., Dittrich AM; Hannover Medical School, Department of Pediatric Pneumology, Allergology and Neonatology, Hannover, Germany.; Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), Member of of the German Center of Lung Research (DZL), Hannover, Germany., Hansen G; Hannover Medical School, Department of Pediatric Pneumology, Allergology and Neonatology, Hannover, Germany.; Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), Member of of the German Center of Lung Research (DZL), Hannover, Germany., Fuchs O; Ludwig-Maximilians-University Munich, Dr von Hauner Children's Hospital, Munich, Germany.; Comprehensive Pneumology Center München (CPC-M), Member of of the German Center of Lung Research (DZL), Munich, Germany., von Mutius E; Ludwig-Maximilians-University Munich, Dr von Hauner Children's Hospital, Munich, Germany.; Comprehensive Pneumology Center München (CPC-M), Member of of the German Center of Lung Research (DZL), Munich, Germany., Oliver BG; Woolcock Institute of Medical Research, Sydney, Australia., Kopp MV; University Medical Center Schleswig-Holstein, Division Pediatric Pneumology & Allergology, Campus Lübeck, Lübeck, Germany.; Airway Research Center North (ARCN), Member of of the German Center of Lung Research (DZL), Borstel, Germany., Paret C; Section of Pediatric Oncology, Children's Hospital, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Russo A; Section of Pediatric Oncology, Children's Hospital, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Theruvath J; Section of Pediatric Oncology, Children's Hospital, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Keller B; Section of Pediatric Oncology, Children's Hospital, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., El Malki K; Section of Pediatric Oncology, Children's Hospital, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Lehmann N; Section of Pediatric Oncology, Children's Hospital, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Wingerter A; Section of Pediatric Oncology, Children's Hospital, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Neu MA; Section of Pediatric Oncology, Children's Hospital, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Aslihan GA; Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Wagner W; Section of Pediatric Neurosurgery, Department of Neurosurgery, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Sommer C; Devision of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Pietsch T; Department of Neuropathology, University of Bonn, Bonn, Germany., Seidmann L; Institute of Pathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Faber J; Section of Pediatric Oncology, Children's Hospital, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.; UCT Mainz, Mainz, Germany., Schreiner F; Pediatric Endocrinology, Children's Hospital, University of Bonn, Bonn, Germany., Ackermann M; Pediatric Endocrinology, Children's Hospital, University of Bonn, Bonn, Germany., Michalik M; Pediatric Endocrinology, Children's Hospital, University of Bonn, Bonn, Germany., Rother E; Pediatric Endocrinology, Children's Hospital, University of Cologne, Cologne, Germany., Bilkei-Gorzo A; Molecular Psychiatry, University Hospital Bonn, Bonn, Germany., Racz I; Molecular Psychiatry, University Hospital Bonn, Bonn, Germany., Bindila L; Institute for Physiological Chemistry, University Medical Center, Mainz, Germany., Lutz B; Institute for Physiological Chemistry, University Medical Center, Mainz, Germany., Dötsch J; Pediatric Endocrinology, Children's Hospital, University of Cologne, Cologne, Germany., Zimmer A; Molecular Psychiatry, University Hospital Bonn, Bonn, Germany., Woelfle J; Pediatric Endocrinology, Children's Hospital, University of Bonn, Bonn, Germany., Fischer HS; Department of Neonatology, Charité University Medical Center, Berlin, Germany., Ullrich TL; Department of Neonatology, Charité University Medical Center, Berlin, Germany., Bührer C; Department of Neonatology, Charité University Medical Center, Berlin, Germany., Czernik C; Department of Neonatology, Charité University Medical Center, Berlin, Germany., Schmalisch G; Department of Neonatology, Charité University Medical Center, Berlin, Germany., Stein R; Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, TU Dresden, Dresden, Germany., Hofmann SR; Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, TU Dresden, Dresden, Germany., Hagenbuchner J; Department of Pediatrics II, Innsbruck, Austria., Kiechl-Kohlendorfer U; Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria., Obexer P; Department of Pediatrics II, Innsbruck, Austria.; Tyrolean Cancer Research Institute, Innsbruck, Austria., Ausserlechner MJ; Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria., Loges NT; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Frommer AT; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Wallmeier J; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Omran H; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Öner-Sieben S; Experimental Pediatrics, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Gimpfl M; Research Center, University Children's Hospital, Ludwig-Maximilians-Universität (LMU) München, München, Germany., Rozman J; Institute of Experimental Genetics, Helmholtz Zentrum München, München, Germany., Irmler M; Institute of Experimental Genetics, Helmholtz Zentrum München, München, Germany., Beckers J; Institute of Experimental Genetics, Helmholtz Zentrum München, München, Germany., De Angelis MH; Institute of Experimental Genetics, Helmholtz Zentrum München, München, Germany., Roscher A; Research Center, University Children's Hospital, Ludwig-Maximilians-Universität (LMU) München, München, Germany., Wolf E; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, LMU München, München, Germany., Ensenauer R; Experimental Pediatrics, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Research Center, University Children's Hospital, Ludwig-Maximilians-Universität (LMU) München, München, Germany., Nemes K; Children's Hospital Augsburg, Swabian Children's Cancer Center, Stenglinstr. 2, 86156, Augsburg, Germany., Frühwald M; Children's Hospital Augsburg, Swabian Children's Cancer Center, Stenglinstr. 2, 86156, Augsburg, Germany., Hasselblatt M; Institute of Neuropathology, University Hospital Münster, Pottkamp 2, 48149, Münster, Germany., Siebert R; Department of Human Genetics, Institute of Human Genetics, University of Ulm, Ulm, Germany., Kordes U; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Kool M; Division of Pediatric Neurooncology (B062), German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany., Wang H; Uniklinik Köln, Klinik für Kinderheilkunde und Jugendmedizin, Köln, Germany., Hardy H; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK., Refai O; University of Calgary, Calgary, Canada., Barwick KES; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK., Zimmerman HH; University of Mississippi, Medical Center of Jackson, Jackson, MS, USA., Weis J; Uniklinik Aachen, Institut für Neuropathologie, Aachen, Germany., Baple EL; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK., Crosby AH; RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK., Cirak S; Uniklinik Köln, Klinik für Kinderheilkunde und Jugendmedizin, Köln, Germany., Hellmuth C; Ludwig-Maximilian-Universität Munich, Div. Metabolic and Nutritional Medicine, Dr. von Hauner Children's Hospital, University of Munich Medical Center, Munich, Germany., Uhl O; Ludwig-Maximilian-Universität Munich, Div. Metabolic and Nutritional Medicine, Dr. von Hauner Children's Hospital, University of Munich Medical Center, Munich, Germany., Standl M; Institute of Epidemiology I, Helmholtz Zentrum München- German Research Center for Environmental Health, Neuherberg, Germany., Heinrich J; Institute of Epidemiology I, Helmholtz Zentrum München- German Research Center for Environmental Health, Neuherberg, Germany.; Institute and Outpatient Clinic for Occupational, Social and Environmental Medicine, Inner City Clinic, University Hospital Munich, Ludwig Maximilian University of Munich, Munich, Germany., Thiering E; Institute of Epidemiology I, Helmholtz Zentrum München- German Research Center for Environmental Health, Neuherberg, Germany., Koletzko B; Ludwig-Maximilian-Universität Munich, Div. Metabolic and Nutritional Medicine, Dr. von Hauner Children's Hospital, University of Munich Medical Center, Munich, Germany., Blümel L; Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Division of Pediatric Neuro-Oncogenomics, German Cancer Consortium and German Cancer Research Center - partner site Essen/Düsseldorf, Düsseldorf, Germany.; Institute of Neuropathology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Kerl K; Department of Pediatric Hematology and Oncology, University Hospital Münster, Münster, Germany., Picard D; Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Division of Pediatric Neuro-Oncogenomics, German Cancer Consortium and German Cancer Research Center - partner site Essen/Düsseldorf, Düsseldorf, Germany.; Institute of Neuropathology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Frühwald MC; Swabian Childrens' Cancer Center, Children's Hospital Augsburg, Augsburg, Germany., Liebau MC; Department of Pediatrics and Center for Molecular Medicine, University Hospital Cologne, Cologne, Germany., Reifenberger G; Institute of Neuropathology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Borkhardt A; Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Hasselblatt M; Institute of Neuropathology, University Hospital Münster, Münster, Germany., Remke M; Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Division of Pediatric Neuro-Oncogenomics, German Cancer Consortium and German Cancer Research Center - partner site Essen/Düsseldorf, Düsseldorf, Germany.; Institute of Neuropathology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Tews D; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Wabitsch M; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Fischer-Posovszky P; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Westhoff MA; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Nonnenmacher L; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Langhans J; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Schneele L; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Trenkler N; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Debatin KM; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
Publikováno v:
Molecular and cellular pediatrics [Mol Cell Pediatr] 2017 May; Vol. 4 (Suppl 1), pp. 5.