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A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers

Estevez-Fraga, C; Magrinelli, F; Latorre, A; Cordivari, C; Houlden, H; Tinazzi, M; Hemingway, C; ... Bhatia, KP; + view all (2020) A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers. Parkinsonism and Related Disorders , 79 pp. 97-99. 10.1016/j.parkreldis.2020.08.016. Green open access

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Type: Article
Title: A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.parkreldis.2020.08.016
Publisher version: https://doi.org/10.1016/j.parkreldis.2020.08.016
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.
Keywords: Hyperekplexia, Glycine receptor, Chorea, Startle, Stiffness
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 > Clinical Neuroscience
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
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
URI: https://discovery.ucl.ac.uk/id/eprint/10110372
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