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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens, Sandra; Barnard, Alison M; Puusepp, Sanna; Pajusalu, Sander; Õunap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R; Goodrich, Julia K; England, Eleina M; Weisburd, Ben; Ganesh, Vijay S; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G; Quinlivan, Ros; Beiraghi Toosi, Mehran; Ghayoor Karimiani, Ehsan; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C; Klee, Eric W; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisèle; Cohen, Enzo; Boland-Augé, Anne; Deleuze, Jean-François; Meng, Yao; Töpf, Ana; Vilain, Catheline.
Affiliation
  • Coppens S; Center of Human Genetics, Université Libre de Bruxelles, 1070 Brussels, Belgium.
  • Barnard AM; Department of Physical Therapy, University of Florida College of Public Health and Health Professions, Gainesville, FL 32610, USA.
  • Puusepp S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
  • Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
  • Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
  • Vargas-Franco D; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
  • Bruels CC; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, NIH, Bethesda, MD 20892, USA.
  • Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Chao KR; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Goodrich JK; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • England EM; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Division of Genetics and Gen
  • Weisburd B; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Ganesh VS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Bri
  • Gudmundsson S; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Division of Genetics and Gen
  • O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Division of Genetics and Gen
  • Nigul M; Department of Radiology, Tartu University Hospital, Tartu 50406, Estonia.
  • Ilves P; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia; Department of Radiology, Tartu University Hospital, Tartu 50406, Estonia.
  • Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, NIH, Bethesda, MD 20892, USA.
  • Siddique T; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
  • Milone M; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
  • Nicolau S; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
  • Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London WC1E 6BT, UK.
  • Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, London WC1E 6BT, UK.
  • Hanna MG; Department of Neuromuscular Disorders, University College London Institute of Neurology, London WC1E 6BT, UK.
  • Quinlivan R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London WC1E 6BT, UK.
  • Beiraghi Toosi M; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 9176999311, Iran.
  • Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad 9187147578, Iran.
  • Costagliola S; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Université Libre de Bruxelles, 1070 Brussels, Belgium.
  • Deconinck N; Centre de Référence Neuromusculaire and Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, 1020 Brussels, Belgium.
  • Kadhim H; Neuropathology Unit, Department of Anatomic Pathology and Reference Center for Neuromuscular Pathology, Brugmann University Hospital-Children's Hospital, Université Libre de Bruxelles, 1020 Brussels, Belgium.
  • Macke E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
  • Lanpher BC; 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.
  • Lusakowska A; Department of Neurology, Medical University of Warsaw, 02-091 Warsaw, Poland.
  • Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, 02-091 Warsaw, Poland.
  • Hahn A; Department of Child Neurology, Justus-Liebig-University Giessen, 35390 Giessen, Germany.
  • Schrank B; Department of Neurology, DKD HELIOS Klinik Wiesbaden, 65191 Wiesbaden, Germany.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan.
  • Ogasawara M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan.
  • El Sherif R; Myo-Care Neuromuscular Center, Myo-Care National Foundation, Cairo 11865, Egypt.
  • Stojkovic T; APHP, Nord-Est/Ile-de-France Neuromuscular Reference Center, Myology Institute, Pitié-Salpêtrière Hospital, 75013 Paris, France; Sorbonne Université, INSERM, Center of Research in Myology, UMRS974, 75651 Paris Cedex 13, France.
  • Nelson I; Sorbonne Université, INSERM, Center of Research in Myology, UMRS974, 75651 Paris Cedex 13, France.
  • Bonne G; Sorbonne Université, INSERM, Center of Research in Myology, UMRS974, 75651 Paris Cedex 13, France.
  • Cohen E; Sorbonne Université, INSERM, Center of Research in Myology, UMRS974, 75651 Paris Cedex 13, France.
  • Boland-Augé A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, 91057 Evry, France.
  • Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, 91057 Evry, France.
  • Meng Y; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK.
  • Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
  • Vilain C; Center of Human Genetics, Université Libre de Bruxelles, 1070 Brussels, Belgium.
Am J Hum Genet ; 108(5): 840-856, 2021 05 06.
Article de En | MEDLINE | ID: mdl-33861953
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéine jagged-2 / Dystrophies musculaires Type d'étude: Prognostic_studies / Risk_factors_studies Langue: En Journal: Am J Hum Genet Année: 2021 Type de document: Article Pays d'affiliation: Belgique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéine jagged-2 / Dystrophies musculaires Type d'étude: Prognostic_studies / Risk_factors_studies Langue: En Journal: Am J Hum Genet Année: 2021 Type de document: Article Pays d'affiliation: Belgique