Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy

Diggle, CP, Sukoff Rizzo, SJ, Popiolek, M et al. (39 more authors) (2016) Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy. American Journal of Human Genetics, 98 (4). pp. 735-743. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Diggle, CP
  • Sukoff Rizzo, SJ
  • Popiolek, M
  • Hinttala, R
  • Schulke, JP
  • Kurian, MA
  • Carr, IM
  • Markham, AF
  • Bonthron, DT
  • Watson, C
  • Malik Sharif, S
  • Reinhart, V
  • James, LC
  • Vanase-Frawley, MA
  • Charych, E
  • Allen, M
  • Harms, J
  • Schmidt, CJ
  • Ng, J
  • Pysden, K
  • Strick, C
  • Vieira, P
  • Mankinen, K
  • Kokkonen, H
  • Kallioinen, M
  • Sormunen, R
  • Rinne, JO
  • Johannsson, J
  • Alakurtti, K
  • Huilaja, L
  • Hurskainen, T
  • Tasanen, K
  • Anttila, E
  • Marques, TR
  • Howes, O
  • Politis, M
  • Fahiminiya, S
  • Nguyen, KQ
  • Majewski, J
  • Uusimaa, J
  • Sheridan, E
  • Brandon, NJ
Copyright, Publisher and Additional Information: © 2016 by The American Society of Human Genetics. All rights reserved. This is an author produced version of a paper published in American Journal of Human Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Dates:
  • Published: 7 April 2016
  • Accepted: 14 March 2016
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Translational Medicine (Leeds)
Funding Information:
FunderGrant number
Wellbeing of Women.
Jules Thorn Charitable TrustNOT GIVEN
Depositing User: Symplectic Publications
Date Deposited: 04 May 2016 08:59
Last Modified: 04 May 2016 23:19
Published Version: http://dx.doi.org/10.1016/j.ajhg.2016.03.015
Status: Published
Publisher: Elsevier (Cell Press)
Identification Number: https://doi.org/10.1016/j.ajhg.2016.03.015

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