Associated Papers
ATP1A3 dysfunction causes motor hyperexcitability and afterhyperpolarization loss in a dystonia model.
Akkuratov EE et al.
Brain : a Journal of Neurology, 2025
ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.
Yu L et al.
Frontiers in Aging Neuroscience, 2022
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Smith RS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Capuano A et al.
The Application of Clinical Genetics, 2020
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Arystarkhova E et al.
Neurobiology of Disease, 2019
The expanding spectrum of ATP1A3 related disease.
Fernandes C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
Stagnaro M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.
Jaffer F et al.
Neurology. Genetics, 2017
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N et al.
Cold Spring Harbor Molecular Case Studies, 2016
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Dard R et al.
Developmental Medicine and Child Neurology, 2015
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT et al.
Pediatric Neurology, 2015
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
Termsarasab P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H et al.
Neurology, 2014
Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.
Toustrup-Jensen MS et al.
The Journal of Biological Chemistry, 2014
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X et al.
Plos One, 2014
Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans.
Bøttger P et al.
Neuroscience and Biobehavioral Reviews, 2012
Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.
Ashmore LJ et al.
Human Genetics, 2009
The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.
Morth JP et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2009
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brashear A et al.
Brain : a Journal of Neurology, 2007
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
de Carvalho Aguiar P et al.
Neuron, 2004