(Q24600468)

42

Arn M J M van den Maagdenberg

0 references

Boukje de Vries

6

Boukje de Vries

0 references

Emanuela Abiusi

Emanuela Abiusi

16

0 references

Fiorella Gurrieri

Fiorella Gurrieri

4

0 references

Ingrid Scheffer

Ingrid E Scheffer

39

0 references

Mohamad A. Mikati

Mohamad A Mikati

44

0 references

Latasha Little

27

Latasha Little

0 references

Sophie Nicole

Sophie Nicole

5

0 references

Alexis Arzimanoglou

Alexis Arzimanoglou

41

0 references

Michel Ferrari

31

Michel D Ferrari

0 references

Kathryn J Swoboda

2

Kathryn J Swoboda

0 references

Lynn Jorde

22

Lynn B Jorde

0 references

Kevin V Shianna

25

Kevin V Shianna

0 references

Erin L Heinzen

1

Erin L Heinzen

0 references

David B. Goldstein

45

David B Goldstein

0 references

Curtis Gumbs

26

Curtis E Gumbs

0 references

author name string

Yuki Hitomi

3

0 references

F Danilo Tiziano

7

0 references

Bertrand Fontaine

8

0 references

Nicole M Walley

9

0 references

Sinéad Heavin

10

0 references

Eleni Panagiotakaki

11

0 references

Stefania Fiori

15

0 references

Lorena Di Pietro

17

0 references

Matthew T Sweney

18

0 references

Tara M Newcomb

19

0 references

Louis Viollet

20

0 references

Chad Huff

21

0 references

Sandra P Reyna

23

0 references

Kelley J Murphy

24

0 references

Kenneth Silver

28

0 references

Louis J Ptáček

29

0 references

Joost Haan

30

0 references

Ann M Bye

32

0 references

Geoffrey K Herkes

33

0 references

Charlotte M Whitelaw

34

0 references

David Webb

35

0 references

Bryan J Lynch

36

0 references

Peter Uldall

37

0 references

Mary D King

38

0 references

Giovanni Neri

40

0 references

Sanjay M Sisodiya

Using ERDS to infer copy-number variants in high-coverage genomes

43

0 references

language of work or name

English

0 references

publication date

September 2012

0 references

published in

Nature Genetics

0 references

volume

44

0 references

issue

9

0 references

page(s)

1030-4

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

Fast and accurate short read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

The Sequence Alignment/Map format and SAMtools

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

The treatment and management of alternating hemiplegia of childhood

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

The CpG dinucleotide and human genetic disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

Infrastructure for the life sciences: design and implementation of the UniProt website

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

SVA: software for annotating and visualizing sequenced human genomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

GeneCards: integrating information about genes, proteins and diseases.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

Achondroplasia is defined by recurrent G380R mutations of FGFR3

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442240

Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

27 September 2017

1 reference

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

21 January 2018

1 reference

Alternating hemiplegia of childhood: insights into its pathophysiology.

21 January 2018

1 reference

Rapid-onset dystonia-parkinsonism: case report.

21 January 2018

1 reference

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

21 January 2018

1 reference

Human Gene Mutation Database (HGMD): 2003 update.

21 January 2018

1 reference

Alternating hemiplegia of childhood

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22842232

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22842232

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2358

1 reference

Dimensions Publication ID

640176

1013004519

0 references

640176

1 reference

1 reference

1 reference