(Q38431638)

3 September 2017

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene (English)

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sensorineural hearing loss

3 September 2017

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7

Stephen W Scherer

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3 September 2017

Alessandra Ruggieri

5

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author name string

Gali Heimer

1

1 reference

3 September 2017

Yair Sadaka

2

1 reference

3 September 2017

Lori Israelian

3

1 reference

3 September 2017

Ariel Feiglin

4

1 reference

3 September 2017

Christian R Marshall

6

1 reference

3 September 2017

Esther Ganelin-Cohen

8

1 reference

3 September 2017

Dina Marek-Yagel

9

1 reference

3 September 2017

Michal Tzadok

10

1 reference

3 September 2017

Andreea Nissenkorn

11

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3 September 2017

Yair Anikster

12

1 reference

3 September 2017

Berge A Minassian

13

1 reference

3 September 2017

Bruria Ben Zeev

14

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3 September 2017

20 April 2015

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Journal of Child Neurology

3 September 2017

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3 September 2017

30

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3 September 2017

13

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3 September 2017

1749-1756

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Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome

3 September 2017

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Multi-system neurological disease is common in patients with OPA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

BFAST: an alignment tool for large scale genome resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Satisfying hydrogen bonding potential in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

The FoldX web server: an online force field

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Crystal structure of the sodium-potassium pump at 2.4 A resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Variable phenotype of rapid-onset dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Interventions for the prevention and treatment of pes cavus

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3-deficient heterozygous mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Distribution of the Na,K-ATPase alpha subunit in the rat spiral ganglion and organ of corti.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Stretch receptor-associated expression of alpha 3 isoform of the Na+, K+-ATPase in rat peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

The multiple faces of the ATP1A3-related dystonic movement disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

Effect of Ouabain on Cochlear Potentials and Endolymph Composition in Guinea Pigs

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073815579708

21 January 2018

Identifiers

DOI

10.1177/0883073815579708

1 reference

3 September 2017

1 reference