Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Farhan, S.M.K., Howrigan, D.P., Abbott, L.E. et al. (32 more authors) (2019) Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience, 22 (12). pp. 1966-1974. ISSN 1097-6256

Abstract

Metadata

Authors/Creators:
  • Farhan, S.M.K.
  • Howrigan, D.P.
  • Abbott, L.E.
  • Klim, J.R.
  • Topp, S.D.
  • Byrnes, A.E.
  • Churchhouse, C.
  • Phatnani, H.
  • Smith, B.N.
  • Rampersaud, E.
  • Wu, G.
  • Wuu, J.
  • Shatunov, A.
  • Iacoangeli, A.
  • Al Khleifat, A.
  • Mordes, D.A.
  • Ghosh, S.
  • Eggan, K.
  • Rademakers, R.
  • McCauley, J.L.
  • Schüle, R.
  • Züchner, S.
  • Benatar, M.
  • Taylor, J.P.
  • Nalls, M.
  • Gotkine, M.
  • Shaw, P.J. ORCID logo https://orcid.org/0000-0002-8925-2567
  • Morrison, K.E.
  • Al-Chalabi, A.
  • Traynor, B.
  • Shaw, C.E.
  • Goldstein, D.B.
  • Harms, M.B.
  • Daly, M.J.
  • Neale, B.M.
Copyright, Publisher and Additional Information: © 2019 The Authors. This is an author-produced version of a paper subsequently published in Nature Neuroscience. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: Amyotrophic lateral sclerosis; protein truncating variants; neurodegeneration; rare variants; DNAJC7
Dates:
  • Accepted: 2 October 2019
  • Published (online): 25 November 2019
  • Published: December 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Sheffield Teaching Hospitals
Funding Information:
FunderGrant number
Medical Research CouncilMR/L501529/1; MR/R024804/1
Economic and Social Research CouncilES/L008238/1
Motor Neurone Disease AssociationN/A
National Institute for Health Research (NIHR)N/A
Depositing User: Symplectic Sheffield
Date Deposited: 06 Jan 2020 15:08
Last Modified: 25 May 2020 00:41
Status: Published
Publisher: Springer Nature
Refereed: Yes
Identification Number: https://doi.org/10.1038/s41593-019-0530-0
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