Share

June 2017; 3 (3) Clinical/Scientific NotesOpen Access

Biallelic TOR1A variants in an infant with severe arthrogryposis

Sara Chadwick Reichert, Pedro Gonzalez-Alegre, Gunter H. Scharer
First published May 9, 2017, DOI: https://doi.org/10.1212/NXG.0000000000000154
Full PDF
Citation
Permissions

Make Comment

See Comments

Downloads
402

Share

Article Information

vol. 3 no. 3 e154
DOI: 
https://doi.org/10.1212/NXG.0000000000000154
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received February 13, 2017
  • Accepted in final form April 5, 2017
  • First Published May 9, 2017.
Copyright & Usage: 
Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Author Disclosures

    1. Sara Chadwick Reichert, MS, MPH,
    2. Pedro Gonzalez-Alegre, MD, PhD and
    3. Gunter H. Scharer, MD
  1. Sara Chadwick Reichert, MS, MPH,
    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

  2. Pedro Gonzalez-Alegre, MD, PhD and
    3. Scientific Advisory Boards:

    1. Teva Huntington's Disease Advisory Board. Spark Therapeutics Huntington's Disease Advisory Board.

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Academic Editor, PLoS One

    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. I received research grants from the US Department of Defense and the NIH unrelated to this work.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Research Grant for the Dystonia Medical Research Foundation

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License fee payments, Technology or Inventions:

    1. Licensing fees from Spark Therapeutics for “Allele- specific silencing for neurological diseases”

    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. Gunter H. Scharer, 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

  1. From the Department of Medical Genetics and Genomics (S.C.R., G.H.S.), Children's Minnesota, Minneapolis; Department of Neurology (P.G.-A.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; and Raymond G. Perelman Center for Cellular & Molecular Therapeutics (P.G.-A.), The Children's Hospital of Philadelphia, PA.
  1. Correspondence to Ms. Reichert: sara.reichert{at}childrensmn.org
View Full Text

Article usage

Article usage: May 2017 to April 2022

AbstractFullPdfSource
May 201712711218Highwire
Jun 20171085420Highwire
Jul 20172765Highwire
Aug 2017731Highwire
Sep 20171543Highwire
Oct 2017424Highwire
Nov 201715136Highwire
Dec 2017490Highwire
Jan 2018572Highwire
Feb 20185109Highwire
Mar 2018662Highwire
Apr 2018684Highwire
May 2018365Highwire
Jun 20185102Highwire
Jul 2018473Highwire
Aug 2018490Highwire
Sep 2018581Highwire
Oct 20187113Highwire
Nov 2018472Highwire
Dec 20184103Highwire
Jan 2019631Highwire
Feb 20196152Highwire
Mar 20199137Highwire
Apr 20198197Highwire
May 20194147Highwire
Jun 201991411Highwire
Jul 20197136Highwire
Aug 20196113Highwire
Sep 201910205Highwire
Oct 20199267Highwire
Nov 201953016Highwire
Dec 20194165Highwire
Jan 20206103Highwire
Feb 202041812Highwire
Mar 20203207Highwire
Apr 20201198Highwire
May 20201169Highwire
Jun 20201146Highwire
Jul 20201179Highwire
Aug 20200156Highwire
Sep 20203194Highwire
Oct 202002110Highwire
Nov 20200156Highwire
Dec 20201193Highwire
Jan 20210133Highwire
Feb 202111511Highwire
Mar 202111825Highwire
Apr 20210123Highwire
May 20211137Highwire
Jun 202101111Highwire
Jul 20211611Highwire
Aug 2021074Highwire
Sep 2021053Highwire
Oct 202111425Highwire
Nov 202101116Highwire
Dec 20210102Highwire
Jan 2022078Highwire
Feb 20220174Highwire
Mar 20220147Highwire
Apr 2022169Highwire

Cited By...

Letters: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org

Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.

If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.

Submission specifications:

  • Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
  • Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
  • Submit only on articles published within 6 months of issue date.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top

Related Articles

  • No related articles found.

Topics Discussed

Alert Me

Advertisement