Germline C1GALT1C1 Mutation Causes a Multisystemic Chaperonopathy with Global Deficiency of Core 1-derived O-Glycosylation

Research Square

Authors 23

1. Florian Erger

   University of Cologne · University Hospital Cologne

   Affiliation as printed

   Institute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne

2. Rajindra P. Aryal

   Harvard University

   Affiliation as printed

   Harvard University

3. Björn Reusch

   University of Cologne · University Hospital Cologne

   Affiliation as printed

   Institute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne

4. Yasuyuki Matsumoto

   Beth Israel Deaconess Medical Center

   Affiliation as printed

   Beth Israel Deaconess Medical Center, HMS

5. Robert Meyer Aachen Institute of Human Genetics Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Institute of Human Genetics, Medical Faculty, RWTH Aachen University

6. Cordula Knopp Aachen Institute of Human Genetics Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Institute of Human Genetics, Medical Faculty, RWTH Aachen University, 52074 Aachen, Germany

7. Maxence Noël

   Beth Israel Deaconess Medical Center · Harvard University

   Affiliation as printed

   Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School

8. Andrea Wenzel

   University of Cologne

   Affiliation as printed

   Center for Molecular Medicine Cologne (CMMC), University of Cologne

9. Stefan Kohl

   University of Cologne · University Hospital Cologne

   Affiliation as printed

   Children’s and Adolescents’ Hospital, University Hospital Cologne, Faculty of Medicine, University of Cologne

10. Nikolai Tschernoster

    University of Cologne

    Affiliation as printed

    Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne

11. Gunter Rappl

    University of Cologne

    Affiliation as printed

    Center for Molecular Medicine Cologne (CMMC), University of Cologne

12. Jutta Schröder–Braunstein

    Heidelberg University

    Affiliation as printed

    Institute of Immunology, University of Heidelberg

13. Felix Sebastian Seibert

    Universitätsklinik Marien Hospital Herne · Ruhr University Bochum

    Affiliation as printed

    Medical Department I, University Hospital Marien Hospital Herne, Ruhr-University Bochum

14. Holger Thiele

    University of Cologne

    Affiliation as printed

    University of Cologne

15. Martin Häusler Aachen Division of Neuropediatrics and Social Pediatrics Medical Faculty

    RWTH Aachen University

    Affiliation as printed

    Division of Neuropediatrics and Social Pediatrics, Medical Faculty, RWTH Aachen University

16. Lutz Thorsten Weber

    University Hospital Cologne

    Affiliation as printed

    University Hospital Cologne

17. Maike J. Büttner-Herold

    Friedrich-Alexander-Universität Erlangen-Nürnberg

    Affiliation as printed

    Friedrich-Alexander-University Erlangen-Nürnberg (FAU)

18. Miriam Elbracht

    Beth Israel Deaconess Medical Center · Harvard University

    Affiliation as printed

    Harvard Medical School , Beth Israel Deaconess Medical Center

19. Sandra F. Cummings

    Beth Israel Deaconess Medical Center

    Affiliation as printed

    Harvard Medical School, Beth Israel Deaconess Medical Center

20. Janine Altmüller
    Affiliation as printed

    BIH

21. Sandra Habbig

    University Hospital Cologne

    Affiliation as printed

    Department of Pediatrics, University Hospital Cologne

22. Richard D. Cummings

    Beth Israel Deaconess Medical Center

    Affiliation as printed

    Beth Israel Deaconess Medical Center, Harvard Medical School

23. Bodo Bernhard Beck

    University Hospital Cologne

    Affiliation as printed

    Institute of Human Genetics, University Hospital Cologne