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Distinct neurological disorders with ATP1A3 mutations

Distinct neurological disorders with ATP1A3 mutations

http://www.wikidata.org/entity/Q34546995

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Effects of Age on Na(+),K(+)-ATPase Expression in Human and Rodent Skeletal Muscle Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models Parkinson's Disease: The Mitochondria-Iron Link Insights into the Pathology of the α2-Na(+)/K(+)-ATPase in Neurological Disorders; Lessons from Animal Models.Managing Brain Extracellular K(+) during Neuronal Activity: The Physiological Role of the Na(+)/K(+)-ATPase Subunit Isoforms Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.ATP1A3 Mutation in Adult Rapid-Onset Ataxia Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.Converging roles of ion channels, calcium, metabolic stress, and activity pattern of Substantia nigra dopaminergic neurons in health and Parkinson's disease Parkinson's disease: animal models and dopaminergic cell vulnerability Molecular mechanisms of epilepsy In Vivo Modelling of ATP1A3 G316S-Induced Ataxia in C. elegans Using CRISPR/Cas9-Mediated Homologous Recombination Reveals Dominant Loss of Function Defects Na, K-ATPase α3 is a death target of Alzheimer patient amyloid-β assembly.Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry Modeling mania in preclinical settings: A comprehensive review.Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.The Structure and Function of the Na,K-ATPase Isoforms in Health and Disease.Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study.Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients Aberrant Purkinje cell activity is the cause of dystonia in a shRNA-based mouse model of Rapid Onset Dystonia-Parkinsonism.Identification of a VxP Targeting Signal in the Flagellar Na+ /K+ -ATPase Pathway-driven discovery of epilepsy genes.Sodium pump organization in dendritic spines.De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.Movement disorders in 2014. Genetic advances spark a revolution in dystonia phenotyping.P2C-Type ATPases and Their Regulation.The genetics of the dystonias--a review based on the new classification of the dystonias.A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).Src-independent ERK signaling through the rat α3 isoform of Na/K-ATPase.Quantitative sodium MR imaging: A review of its evolving role in medicine.Diagnosis and Treatment of Alternating Hemiplegia of Childhood.Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314.Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.Cellular Taxonomy of the Mouse Striatum as Revealed by Single-Cell RNA-Seq.Importance of a Potential Protein Kinase A Phosphorylation Site of Na+,K+-ATPase and Its Interaction Network for Na+ Binding

P2860

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P2860

Distinct neurological disorders with ATP1A3 mutations

http://www.wikidata.org/entity/Q34546995

description

2014 nî lūn-bûn

@nan

2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2014 թվականի մայիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

@zh-hk

2014年論文

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2014年論文

@zh-tw

2014年论文

@wuu

name

Distinct neurological disorders with ATP1A3 mutations

@ast

Distinct neurological disorders with ATP1A3 mutations

@en

Distinct neurological disorders with ATP1A3 mutations

@nl

type

label

Distinct neurological disorders with ATP1A3 mutations

@ast

Distinct neurological disorders with ATP1A3 mutations

@en

Distinct neurological disorders with ATP1A3 mutations

@nl

prefLabel

Distinct neurological disorders with ATP1A3 mutations

@ast

Distinct neurological disorders with ATP1A3 mutations

@en

Distinct neurological disorders with ATP1A3 mutations

@nl

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S1474-4422(14)70011-0

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Lancet Neurology

P1476

Distinct neurological disorders with ATP1A3 mutations

@en

P2093

ATP1A3 Working Group

http://www.w3.org/2001/XMLSchema#string

Allison Brashear

http://www.w3.org/2001/XMLSchema#string

Arn van den Maagdenberg

http://www.w3.org/2001/XMLSchema#string

Bente Vilsen

http://www.w3.org/2001/XMLSchema#string

Brian Neville

http://www.w3.org/2001/XMLSchema#string

David B Goldstein

http://www.w3.org/2001/XMLSchema#string

Erin L Heinzen

http://www.w3.org/2001/XMLSchema#string

Hanne Poulsen

http://www.w3.org/2001/XMLSchema#string

Kathleen J Sweadner

http://www.w3.org/2001/XMLSchema#string

Laurie J Ozelius

http://www.w3.org/2001/XMLSchema#string

P2860

Transport and pharmacological properties of nine different human Na, K-ATPase isozymes

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

The neural substrates of rapid-onset Dystonia-Parkinsonism.

Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.

A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice.

Crystal structure of the sodium-potassium pump (Na+,K+-ATPase) with bound potassium and ouabain

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

P304

503-514

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scholarly article

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10.1016/S1474-4422(14)70011-0

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5

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13

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Mohamad A. Mikati

Fiorella Gurrieri

Alexis Arzimanoglou

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2014-05-01T00:00:00Z

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24739246

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4238309

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