A novel ATP1A3 mutation with unique clinical presentation
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference8 articles.
1. Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism;de Carvalho;Neuron,2004
2. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene;Brashear;Brain,2007
3. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study;Rosewich;Lancet Neurol,2012
4. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood;Heinzen;Nat Genet,2012
5. Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation;Anselm;Neurology,2009
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1. ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis;Frontiers in Aging Neuroscience;2022-08-01
2. Genetically altered animal models for ATP1A3-related disorders;Disease Models & Mechanisms;2021-10-01
3. Combined dystonias: clinical and genetic updates;Journal of Neural Transmission;2020-10-24
4. D-DEMØ, a distinct phenotype caused byATP1A3mutations;Neurology Genetics;2020-08-04
5. Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases;Gene;2020-07
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