Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine (Q57949967)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

familial hemiplegic migraine

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Jorge Sequeiros

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

José Pereira-Monteiro

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Maria-José Castro

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

José Barros

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Isabel Pavão Martins

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Anine H Stam

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Raquel G Gouveia

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Jan B Koenderink

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Kaate R J Vanmolkot

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Alexandre P Mendes

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Rune R Frants

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Michel D Ferrari

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Arn M J M van den Maagdenberg

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

19 October 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

9 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

990-998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10038-007-0205-7

9 January 2020

exact match

0 references

cites work

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0205-7

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0205-7

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Phylogenetic conservation of isoform-specific regions within alpha-subunit of Na(+)-K(+)-ATPase

1 reference

12 December 2020

Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2

1 reference

12 December 2020

Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity

1 reference

12 December 2020

Functional effects of Na+,K+-ATPase gene mutations linked to familial hemiplegic migraine.

1 reference

12 December 2020

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

1 reference

12 December 2020

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

1 reference

12 December 2020

Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine

1 reference

12 December 2020

A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2

1 reference

12 December 2020

ATP1A2 mutations in 11 families with familial hemiplegic migraine

1 reference

12 December 2020

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel ATP1A2 mutation in a family with FHM type II

1 reference

12 December 2020

Phosphorylation region of the yeast plasma-membrane H+-ATPase. Role in protein folding and biogenesis

1 reference

12 December 2020

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family

1 reference

12 December 2020

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

1 reference

12 December 2020

Structure-function relationships of E1-E2 transitions and cation binding in Na,K-pump protein

1 reference

12 December 2020

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

1 reference

12 December 2020

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

1 reference

12 December 2020

Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine

1 reference

12 December 2020

Structure-function studies of Na,K-ATPase. Site-directed mutagenesis of the border residues from the H1-H2 extracellular domain of the alpha subunit.

1 reference

12 December 2020

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

1 reference

12 December 2020

Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 A resolution

1 reference

12 December 2020

Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation

1 reference

12 December 2020

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation

1 reference

12 December 2020

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

1 reference

12 December 2020

The International Classification of Headache Disorders: 2nd edition

1 reference

12 December 2020

10.1007/S10038-007-0205-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17952365%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference