Výsledky vyhledávání - "Körner, Robert Walter"

Akademický článek

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Autor: Möller B; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Becker LL; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, 13353 Berlin, Germany.; Charité-Universitätsmedizin Berlin, Institute for Cell Biology and Neurobiology, 13353 Berlin, Germany., Saffari A; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University, 69120 Heidelberg, Germany., Afenjar A; Sorbonne University, Reference Center for Malformations and Congenital Diseases of the Cerebellum and Intellectual Disabilities of Rare Causes, Department of Genetics and Medical Embryology, Trousseau Hospital Paris, 75012 Paris, France., Coci EG; Department of Paediatrics, Otto-von-Guericke-University Magdeburg, 39120 Magdeburg, Germany.; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark., Williamson R; Akron Children's Hospital Genetic Center, Akron, 44308 OH, USA., Ward-Melver C; Service de pédiatrie, CHU de Nantes, 44000 Nantes, France., Gibaud M; Service de pédiatrie, CHU de Nantes, 44000 Nantes, France., Sedláčková L; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic., Laššuthová P; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic., Libá Z; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic., Vlčková M; Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic., William N; Center for Individualized Medicine, Mayo Clinic, Rochester, 55901 MN, USA., Klee EW; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, 55901 MN, USA., Gavrilova RH; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, 55901 MN, USA., Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France., Capri Y; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France., Scavina M; Nemours Children's Health, AI duPont Division of Neurology, Wilmington, 19803 DE, USA., Körner RW; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Valuvullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, 02142 MA, USA., Weiß C; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, 13353 Berlin, Germany., Möller GM; Berlin University of Applied Sciences and Technology, 10587 Berlin, Germany., Thiel M; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Sinnema M; Maastricht University Medical Center, Department of Clinical Genetics, 6229 Maastricht, The Netherlands., Kamsteeg EJ; Radboud University Medical Center, 6525 Nijmegen, The Netherlands., Donkervoort S; National Institute of Neurological Disorders and Stroke, Bethesda, 20892 MD, USA., Duboc V; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France., Zaafrane-Khachnaoui K; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Trust, Cambridge CB2 3EH, UK.; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt., Selim L; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt., Margot H; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France., Marin V; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France., Beneteau C; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France., Isidor B; Nantes University, CHU de Nantes, Genetics department, 44000 Nantes, France., Cogne B; Nantes University, CHU de Nantes, Genetics department, 44000 Nantes, France., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, 75013 Paris, France., Küsters B; Department of Pathology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, The Netherlands., Beggs AH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, 02445 MA, USA., Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, 02445 MA, USA., Nicolai J; Maastricht University Medical Center, Department of Neurology, 6229 Maastricht, the Netherlands., Dötsch J; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Koy A; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Bönnemann CG; National Institute of Neurological Disorders and Stroke, Bethesda, 20892 MD, USA., von der Hagen M; Department of Neuropediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., von Kleist-Retzow JC; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Voermans N; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, 6525 Nijmegen, the Netherlands., Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK., Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Jun 08. Date of Electronic Publication: 2024 Jun 08.

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