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ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.

Sheerin, UM; Schneider, SA; Carr, L; Deuschl, G; Hopfner, F; Stamelou, M; Wood, NW; (2014) ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology , 82 (12) pp. 1065-1067. 10.1212/WNL.0000000000000254. Green open access

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Abstract

To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia.

Type: Article
Title: ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1212/WNL.0000000000000254
Publisher version: http://dx.doi.org/10.1212/WNL.0000000000000254
Additional information: © 2014 American Academy of Neurology. This is an open access article distributed under the Creative Commons Attribution License, 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 > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1423406
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