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December 15, 2015; 85 (24) Article

Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats

Jeffrey M. Statland, Colleen M. Donlin-Smith, Stephen J. Tapscott, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Rabi Tawil
First published November 11, 2015, DOI: https://doi.org/10.1212/WNL.0000000000002217
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Article Information

vol. 85 no. 24 2147-2150
DOI: 
https://doi.org/10.1212/WNL.0000000000002217
PubMed: 
26561289
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 8, 2015
  • Accepted in final form August 24, 2015
  • First Published November 11, 2015.

Article Versions

Copyright & Usage: 
© 2015 American Academy of Neurology

Author Disclosures

    1. Jeffrey M. Statland, MD,
    2. Colleen M. Donlin-Smith, MA,
    3. Stephen J. Tapscott, MD, PhD,
    4. Richard J.L.F. Lemmers, PhD,
    5. Silvère M. van der Maarel, PhD and
    6. Rabi Tawil, MD
  1. Jeffrey M. Statland, MD,
    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. 1) Cytokinetics 2) Regeneron

    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. NCATS grant awarded to the University of Kansas Medical Center for Frontiers: The Heartland Institute for Clinical and Translational Research # KL2TR000119; KL2 scholar; 2014-2016.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. FSH Society Research Grant (FSHS-22013-01), Statland (PI), 07/2013-01/2015. FSH Society Research Grant(FSHS-82012-02), Statland (PI), 02/2013-01/2015.

    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

  2. Colleen M. Donlin-Smith, MA,
    3. 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. Stephen J. Tapscott, MD, PhD,
    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

  4. Richard J.L.F. Lemmers, PhD,
    5. 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. the Fields Center for FSHD Research the FSH Society

    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. Silvère M. van der Maarel, PhD and
    6. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Neuromuscular Disorders, editorial advisory board member, since 2010

    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. 1) NWO, 2) NIH, 3) EU

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. 1) Muscular Dystrophy Association, 2) FSH Society, 3) Association Francaise contre les myopathies, 4) Stichting FSHD, 5) Prinses Beatrix Spierfonds

    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

  6. Rabi Tawil, MD
    7. Scientific Advisory Boards:

    1. 1. Novartis (safety monitoring board)

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Journal of Neuromuscular Diseases (Editorial board)

    Patents:

    1. NONE

    Publishing Royalties:

    1. Neuromuscular Disorders, Rabi N Tawil & Shannon Venance (Editors), Neurology in Practice Series, Wiley-Blackwell, 2011

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. 1. Acceleron 2. Regeneron Sanofi 3. Third Rock Ventures 4. aTyr Pharma

    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. FDA:7R01FD003710, PI: Benatar, co-investigator, 11/22/10-6/30/15 2. NIH: R01 NS061795-01A2, co-PIs: McDermott/Tawil,1/1/10- 1/1/15. 3. NIH: 1P01 NS069539-01, PI: Tapscott, co-investigator, 04/15/10-03/31/15 4. NIH: 1U54 AR065139-01A1, co_PI, PI: Jeff Chamberlain 3/1/14-3/1/18

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. SMA foundation, investigator FSH Society, co-investigator FSHD Global, co-investigator

    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 Neurology (J.M.S.), University of Kansas Medical Center, Kansas City; the Department of Neurology (C.M.D., R.T.), University of Rochester Medical Center, NY; the Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and the Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands.
  1. Correspondence to Dr. Statland: jstatland{at}kumc.edu
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