Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System

• John F. Staropoli,

  Affiliations Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Larissa Haliw,

  Affiliation Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Sunita Biswas,

  Affiliation Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Lillian Garrett,

  Affiliation Institute of Developmental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Sabine M. Hölter,

  Affiliation Institute of Developmental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Lore Becker,

  Affiliations Department of Neurology, Friedrich-Baur-Institut, Ludwig-Maximilians-Universität München, Munich, Germany, German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Sergej Skosyrski,

  Affiliation Charité-Eye Hospital, Campus Virchow-Klinikum, Berlin, Germany

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• Patricia Da Silva-Buttkus,

  Affiliation Institute of Pathology, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Julia Calzada-Wack,

  Affiliation Institute of Pathology, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Frauke Neff,

  Affiliation Institute of Pathology, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Birgit Rathkolb,

  Affiliations German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany, Chair for Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-Universität München, Munich, Germany

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• Jan Rozman,

  Affiliations German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany, Molecular Nutritional Medicine, Else Kröner-Fresenius Center, TUM, Freising-Weihenstephan, Germany

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• Anja Schrewe,

  Affiliation German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Thure Adler,

  Affiliations German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany, Institute of Medical Microbiology, Immunology, and Hygiene, TUM, München, Germany

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• Oliver Puk,

  Affiliation Institute of Developmental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Minxuan Sun,

  Affiliation Institute of Developmental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Jack Favor,

  Affiliation Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Ildikó Racz,

  Affiliation Institute of Molecular Psychiatry, University of Bonn, Bonn, Germany

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• Raffi Bekeredjian,

  Affiliation Department of Medicine III, Division of Cardiology, University of Heidelberg, Otto-Meyerhof-Zentrum, Heidelberg, Germany

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• Dirk H. Busch,

  Affiliation Institute of Medical Microbiology, Immunology, and Hygiene, TUM, München, Germany

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• Jochen Graw,

  Affiliation Institute of Developmental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Martin Klingenspor,

  Affiliation Molecular Nutritional Medicine, Else Kröner-Fresenius Center, TUM, Freising-Weihenstephan, Germany

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• Thomas Klopstock,

  Affiliation Department of Neurology, Friedrich-Baur-Institut, Ludwig-Maximilians-Universität München, Munich, Germany

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• Eckhard Wolf,

  Affiliation Chair for Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-Universität München, Munich, Germany

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• Wolfgang Wurst,

  Affiliations Institute of Developmental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany, Lehrstuhl für Entwicklungsgenetik, TUM, Freising-Weihenstephan, Germany, Max-Planck-Institute of Psychiatry, Munich, Germany, Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. Site Munich, Munich, Germany

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• Andreas Zimmer,

  Affiliation Institute of Molecular Psychiatry, University of Bonn, Bonn, Germany

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• Edith Lopez,

  Affiliation Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Hayat Harati,

  Affiliations Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Neurogenetics Program and Division of Pediatric Neurology, Departments of Pediatrics and Biochemistry, American University of Beirut, Beirut, Lebanon

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• Eric Hill,

  Affiliation Center for Systems Biology, Program in Membrane Biology/Nephrology Division, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Daniela S. Krause,

  Affiliation Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Jolene Guide,

  Affiliation Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Ella Dragileva,

  Affiliation Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Evan Gale,

  Affiliation Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Vanessa C. Wheeler,

  Affiliation Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Rose-Mary Boustany,

  Affiliation Neurogenetics Program and Division of Pediatric Neurology, Departments of Pediatrics and Biochemistry, American University of Beirut, Beirut, Lebanon

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• Diane E. Brown,

  Affiliations Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Center for Comparative Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Sylvie Breton,

  Affiliation Center for Systems Biology, Program in Membrane Biology/Nephrology Division, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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• Klaus Ruether,

  Affiliation Augenabteilung Sankt Gertrauden Krankenhaus, Berlin, Germany

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• Valérie Gailus-Durner,

  Affiliation German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Helmut Fuchs,

  Affiliation German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany

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• Martin Hrabě de Angelis,

  Affiliations German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg/Munich, Germany, Lehrstuhl für Experimentelle Genetik, TUM, Freising-Weihenstephan, Germany

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•  [ ... ],
• Susan L. Cotman

  * E-mail: cotman@helix.mgh.harvard.edu

  Affiliation Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America

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