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November 22, 2016; 87 (21) Article

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement

Andreas Unger, Gabriele Dekomien, Anne Güttsches, Thomas Dreps, Rudolf Kley, Martin Tegenthoff, Andreas Ferbert, Joachim Weis, Christoph Heyer, Wolfgang A. Linke, Lilian Martinez-Carrera, Markus Storbeck, Brunhilde Wirth, Sabine Hoffjan, Matthias Vorgerd
First published October 26, 2016, DOI: https://doi.org/10.1212/WNL.0000000000003360
Andreas Unger
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Gabriele Dekomien
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Anne Güttsches
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Thomas Dreps
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Rudolf Kley
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Martin Tegenthoff
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Andreas Ferbert
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Joachim Weis
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Christoph Heyer
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Wolfgang A. Linke
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Lilian Martinez-Carrera
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Markus Storbeck
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Brunhilde Wirth
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Sabine Hoffjan
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Matthias Vorgerd
From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
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Full PDF
Citation
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement
Andreas Unger, Gabriele Dekomien, Anne Güttsches, Thomas Dreps, Rudolf Kley, Martin Tegenthoff, Andreas Ferbert, Joachim Weis, Christoph Heyer, Wolfgang A. Linke, Lilian Martinez-Carrera, Markus Storbeck, Brunhilde Wirth, Sabine Hoffjan, Matthias Vorgerd
Neurology Nov 2016, 87 (21) 2235-2243; DOI: 10.1212/WNL.0000000000003360

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Article Information

vol. 87 no. 21 2235-2243
DOI: 
https://doi.org/10.1212/WNL.0000000000003360
PubMed: 
27784775

Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received May 3, 2016
  • Accepted in final form August 12, 2016
  • First Published October 26, 2016.

Article Versions

  • Previous version (October 26, 2016 - 13:00).
  • You are viewing the most recent version of this article.
Copyright & Usage: 
© 2016 American Academy of Neurology

Author Disclosures

    1. Andreas Unger, PhD,
    2. Gabriele Dekomien, MD,
    3. Anne Güttsches, MD,
    4. Thomas Dreps,
    5. Rudolf Kley, MD,
    6. Martin Tegenthoff, MD,
    7. Andreas Ferbert, MD,
    8. Joachim Weis, MD,
    9. Christoph Heyer, MD, PhD,
    10. Wolfgang A. Linke, Phd,
    11. Lilian Martinez-Carrera,
    12. Markus Storbeck, MD,
    13. Brunhilde Wirth, PhD,
    14. Sabine Hoffjan, MD and
    15. Matthias Vorgerd, MD
  1. Andreas Unger, PhD,
  2. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  3. Gabriele Dekomien, MD,
  4. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  5. Anne Güttsches, MD,
  6. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  7. Thomas Dreps,
  8. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  9. Rudolf Kley, MD,
  10. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. (1) German Research Foundation (KL2487/2-2)

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  11. Martin Tegenthoff, MD,
  12. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. 1. Device for influencing brain functions of a human being US patent No 8046083

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. DFG

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. Heimer Stiftung f?r Muskelforschung

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License fee payments, Technology or Inventions:
    1. see No 5

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  13. Andreas Ferbert, MD,
  14. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for travel or speaker honoraria:
    1. Speakers honorarium from Daiichi Sankyo

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  15. Joachim Weis, MD,
  16. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. Editorial board member Acta Neuropathologica, Aktuelle Neurologie

    Patents:
    1. NONE

    Publishing Royalties:
    1. Book editor “Peripheral nerve disorders: Pathology and genetics”, Wiley Blackwell

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. (1) German Ministry of Science and Education, MD-Net, DLR 360240, 2006-2012, (2) European Union, MEST-CT-2005-120589, 2005-2010, (3) Belgian Science Policy, R/uapa/P6/I/ WEIS, 2007-2012, (4) German Ministry of Science and Education, ID 40 2010-2014, (5) German Research Foundation (DFG), WE 1406/13-1, 2010-2016 (6) German Ministry of Science and Education, MND-Net, 2012-2015 (7) DFG; AK 469/1 (8) German Ministry of Science and Education, CMT-Net, 2015-2018, (9) EU Joint Program Neurodegenerative Disease Research (JPND), 2015-2018

    Research Support, Academic Entities:
    1. (1) JARA Brain

    Research Support, Foundations and Societies:
    1. (1) German Research Foundation, WE 1406/13-1, (2) German Society for Muscle Diseases, (3) Jackstaedt Foundation, (4)German Research Foundation, BiMEA

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  17. Christoph Heyer, MD, PhD,
  18. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for travel or speaker honoraria:
    1. Speaker honoraria provided by Bayer Healthcare and Bracco

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  19. Wolfgang A. Linke, Phd,
  20. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  21. Lilian Martinez-Carrera,
  22. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NeurOmics project has received funding from the European Union?s Seventh Framework Programme for research, technological development and demonstration under grant agreement no 2012-305121.

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  23. Markus Storbeck, MD,
  24. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. The NeurOmics project has received funding from the European Union?s Seventh Framework Programme for research, technological development and demonstration under grant agreement no 2012-305121

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  25. Brunhilde Wirth, PhD,
  26. Scientific Advisory Boards:
    1. non profit entity; SMA Europe

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. European Community's Seventh Framework Program EFP7/2007-2013 under grant agreement no 2012-305121 (Project acronym NeurOmics)

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  27. Sabine Hoffjan, MD and
  28. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. Associate Editor MCP Journal (Elsevier) since 2015

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  29. Matthias Vorgerd, MD
  30. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  1. From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
  1. Correspondence to Dr. Unger: unger.andreas{at}rub.de or Dr. Vorgerd: matthias.vorgerd{at}bergmannsheil.de
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