(Q50792593)

English

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

scientific article published on 30 July 2012

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scholarly article

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

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

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

alternating hemiplegia of childhood

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inferred from title

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based on heuristic

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6

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Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Peter Nürnberg

10

object named as

Peter Nürnberg

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Europe PubMed Central

19 March 2018

Janine Altmüller

5

object named as

Janine Altmüller

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Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

2

object named as

Holger Thiele

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

author name string

Hendrik Rosewich

1

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Andreas Ohlenbusch

3

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Ulrike Maschke

4

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Birgit Zirn

7

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Friedrich Ebinger

8

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Hartmut Siemes

9

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Knut Brockmann

11

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Jutta Gärtner

12

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

publication date

30 July 2012

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Lancet Neurology

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

11

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Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

9

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Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

764-773

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

Alternating hemiplegia of childhood

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Alternating hemiplegia in infants: report of five cases.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

The treatment and management of alternating hemiplegia of childhood

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

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Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Glut1 deficiency and alternating hemiplegia of childhood

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Variation in genome-wide mutation rates within and between human families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid-onset dystonia-parkinsonism: case report.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid-onset dystonia-parkinsonism in a second family.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Variable phenotype of rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid onset dystonia parkinsonism in a 14-year-old girl

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in EZH2 cause Weaver syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial basilar migraine associated with a new mutation in the ATP1A2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuronal function and alpha3 isoform of the Na/K-ATPase.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid-onset dystonia-parkinsonism: A clinical and genetic analysis of a new kindred

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970182-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1474-4422(12)70182-5

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

1 reference

Europe PubMed Central

19 March 2018

http://europepmc.org/abstract/MED/22850527

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