A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

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A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

Efthymiou, S; Breza, M; Bourinaris, T; Maroofian, R; Athanasiou-Fragkouli, A; Tzartos, J; Velonakis, G; ... Houlden, H; + view all (2020) A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia. Brain: A Journal of Neurology , 143 (6) , Article e49. 10.1093/brain/awaa120. Green open access

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Type:	Article
Title:	A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
Open access status:	An open access version is available from UCL Discovery
DOI:	10.1093/brain/awaa120
Publisher version:	https://doi.org/10.1093/brain/awaa120
Language:	English
Additional information:	This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.
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/10094640

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