The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
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| Title: | The expanding clinical and genetic spectrum of DYNC1H1-related disorders. |
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| Authors: | Möller B; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Becker LL; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Institute for Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany., Saffari A; Heidelberg University, Medical Faculty Heidelberg, University Hospital Heidelberg, Center for Pediatrics and Adolescent Medicine, Department of Pediatrics I, Division of Child Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Afenjar A; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Intellectual Disabilities of Rare Causes, Department of Genetics and Medical Embryology, Sorbonne University, 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, OH 44308, USA., Ward-Melver C; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA., 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; Department of 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, MN 55901, USA., Klee EW; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA., Gavrilova RH; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, 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; Division of Neurology, Nemours Children's Health, Wilmington, Delaware 19803, USA., Körner RW; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA., Weiß C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany., Möller GM; Berlin University of Applied Sciences and Technology, 10587 Berlin, Germany., Frazier Z; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Roberts A; Center for Cardiovascular Genetics, Boston Children's Hospital, Boston, MA 02115, USA., Gener B; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Barakaldo 48903, Spain., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Thiel M; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Kamsteeg EJ; Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, 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; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France., Cogne B; Genetics Department, Nantes University, CHU de Nantes, 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 GA Nijmegen, The Netherlands., Beggs AH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA., Sveden A; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA., Nicolai J; Department of Neurology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Dötsch J; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Koy A; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA., von der Hagen M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., von Kleist-Retzow JC; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University 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, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, 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. |
| Source: | Brain : a journal of neurology [Brain] 2025 Feb 03; Vol. 148 (2), pp. 597-612. |
| Publication Type: | Journal Article |
| 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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