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Correlation of clinical and molecular features in spinal bulbar muscular atrophy.

Fratta, P; Nirmalananthan, N; Masset, L; Skorupinska, I; Collins, T; Cortese, A; Pemble, S; ... Hanna, MG; + view all (2014) Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology , 82 (23) pp. 2077-2084. 10.1212/WNL.0000000000000507. Green open access

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Abstract

To characterize the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom.

Type: Article
Title: Correlation of clinical and molecular features in spinal bulbar muscular atrophy.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1212/WNL.0000000000000507
Publisher version: http://dx.doi.org/10.1212/WNL.0000000000000507
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 > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1430033
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