<p>A novel optineurin truncation mutation identified in a consanguineous Palestinian family with Amyotrophic Lateral Sclerosis confirms loss of function as a disease mechanism</p>

Marc Gotkine; Martina  De Majo; Wong  Chun Hao; Simon  Topp; Moein  Kanaan; Rachel  Michaelson-Cohen; Silvina  Epsztejn Litman; Rachel  Eigess; Agnes   L. Nishimura; Bradley N. Smith; Christopher E. Shaw

doi:10.7490/f1000research.1113439.1

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Gotkine M, De Majo M, Chun Hao W et al. A novel optineurin truncation mutation identified in a consanguineous Palestinian family with Amyotrophic Lateral Sclerosis confirms loss of function as a disease mechanism [version 1; not peer reviewed]. F1000Research 2016, 5:2754 (poster) (https://doi.org/10.7490/f1000research.1113439.1)

NOTE: it is important to ensure the information in square brackets after the title is included in this citation.

A novel optineurin truncation mutation identified in a consanguineous Palestinian family with Amyotrophic Lateral Sclerosis confirms loss of function as a disease mechanism

Marc Gotkine¹, Martina De Majo, Wong Chun Hao, Simon Topp, Moein Kanaan, Rachel Michaelson-Cohen, Silvina Epsztejn Litman, Rachel Eigess, Agnes L. Nishimura, Bradley N. Smith, Christopher E. Shaw

Published 24 Nov 2016 (https://doi.org/10.7490/f1000research.1113439.1)

Author Affiliations

¹ Hadassah University Hospital, Jerusalem, Israel

Copyright © 2016 Gotkine M et al. This is an open access work distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Published 24 Nov 2016

A novel optineurin truncation mutation identified in a consanguineous Palestinian family with Amyotrophic Lateral Sclerosis confirms loss of function as a disease mechanism
[version 1; not peer reviewed]

Marc Gotkine¹, Martina De Majo, Wong Chun Hao, Simon Topp, Moein Kanaan, Rachel Michaelson-Cohen, Silvina Epsztejn Litman, Rachel Eigess, Agnes L. Nishimura, Bradley N. Smith, Christopher E. Shaw

Author Affiliations

¹ Hadassah University Hospital, Jerusalem, Israel

Presented at

27th International Symposium on ALS/MND 2016

Abstract

Competing Interests

No competing interests were disclosed

Keywords

optineurin, ALS, genetics, hereditary, fALS, recessive, loss of function

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