Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. - Wikidata - thesis-toulmin - TriplyDB

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

http://www.wikidata.org/entity/Q34586667

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The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence Genetics in dystonia: an update Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings Distinct neurological disorders with ATP1A3 mutations Origins and functional diversification of salinity-responsive Na(+) , K(+) ATPase α1 paralogs in salmonids.Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study.Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients Genetic forms of epilepsies and other paroxysmal disorders iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.Episodic movement disorders: from phenotype to genotype and back.The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.Pediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcome.Ketogenic diet and childhood neurological disorders other than epilepsy: an overview.A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.Somatosensory system hyperexcitability in alternating hemiplegia of childhood.TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.Mosaicism in ATP1A3-related disorders: not just a theoretical risk.Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

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P2860

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

http://www.wikidata.org/entity/Q34586667

description

2013 nî lūn-bûn

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2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2013 թվականի փետրվարին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年论文

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Identification of ATP1A3 mutat ...... hildhood in Japanese patients.

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Identification of ATP1A3 mutat ...... hildhood in Japanese patients.

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Identification of ATP1A3 mutat ...... hildhood in Japanese patients.

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Identification of ATP1A3 mutat ...... hildhood in Japanese patients.

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Identification of ATP1A3 mutat ...... hildhood in Japanese patients.

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Identification of ATP1A3 mutat ...... hildhood in Japanese patients.

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JOURNAL.PONE.0056120

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Identification of ATP1A3 mutat ...... hildhood in Japanese patients.

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Atsushi Ishii

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Hidee Arai

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Hirokazu Oguni

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Hiroyuki Ishiura

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Jun Mitsui

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Jun Yoshimura

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Masayuki Sasaki

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Sadami Kimura

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Shinichi Hirose

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Shinichi Morishita

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P2860

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

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

Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

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

Fast and accurate short read alignment with Burrows-Wheeler transform

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.

The Sequence Alignment/Map format and SAMtools

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

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