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.
![[thumbnail of C9orf72_amyotrophic_lateral_sclerosis_and.4.pdf]](https://discovery-pp.ucl.ac.uk/style/images/fileicons/application_pdf.png) |
PDF
C9orf72_amyotrophic_lateral_sclerosis_and.4.pdf Download (301kB) |
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-pp.ucl.ac.uk/id/eprint/1450360 |
Archive Staff Only
 |
View Item |
