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C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?

Mizielinska, S; Isaacs, AM; (2014) C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function? Curr Opin Neurol , 27 (5) 515 - 523. 10.1097/WCO.0000000000000130. Green open access

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Abstract

The molecular mechanisms that underlie chromosome 9 open reading frame 72 (C9orf72)-associated amyotrophic lateral sclerosis and frontotemporal dementia are rapidly emerging. Two potential disease mechanisms have been postulated - gain or loss of function. We provide an overview of recent advances that support or oppose gain-of-function and loss-of-function mechanisms.

Type: Article
Title: C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/WCO.0000000000000130
Publisher version: http://dx.doi.org/10.1097/WCO.0000000000000130
Language: English
Additional information: © Lippincott Williams & Wilkins. This is an open access article distributed under the Creative Commons Attribution License 4.0, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1450360
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