Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms
Author:
Affiliation:
1. ; Molecular Neurosciences, Developmental Neuroscience; UCL Institute of Child Health; London UK
2. ; Developmental Neurosciences Programme; UCL GOS - Institute of Child Health; 30 Guilford Street London WC1N 1EH UK
Funder
University College London
NIHR Research Professorship
Wellcome Trust Wellcome Trust
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-018-0205-0/fulltext.html
Reference134 articles.
1. G olf mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-Dihydroxyphenylalanine-induced dyskinesia;Alcacer;J Neurosci,2012
2. Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities;Alkufri;Neurol Genet,2016
3. Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder;Ananth;Pediatr Neurol,2016
4. GNAO1-associated epileptic encephalopathy and movement disorders: c.607G> a variant represents a probable mutation hotspot with a distinct phenotype;Arya;Epileptic Disord,2017
5. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling;Baker;J Clin Invest,2015
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