A new Italian FHM2 family: clinical aspects and functional analysis of the disease-associated mutation. (Q54383380)

29 May 2018

title

A new Italian FHM2 family: clinical aspects and functional analysis of the disease-associated mutation. (English)

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29 May 2018

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1

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Maria Virginia Soldovieri

4

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Paolo Ambrosino

Paolo Ambrosino

5

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Rosa Iodice

Rosa Iodice

6

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Fiore Manganelli

Fiore Manganelli

2

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Filippo Maria Santorelli

Filippo Santorelli

9

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ORCID Public Data File 2021

author name string

Maria Roberta Fortunato

3

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Chiara Pisciotta

7

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Alessandra Tessa

8

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Maurizio Taglialatela

10

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29 May 2018

language of work or name

English

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publication date

11 March 2011

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29 May 2018

published in

Cephalalgia

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29 May 2018

volume

31

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29 May 2018

issue

7

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29 May 2018

page(s)

808-819

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A gene for familial hemiplegic migraine maps to chromosome 19

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

A novel ATP1A2 mutation in a family with FHM type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Structure-function relationships in the Na,K-ATPase alpha subunit: site-directed mutagenesis of glutamine-111 to arginine and asparagine-122 to aspartic acid generates a ouabain-resistant enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Rapid colorimetric assay for cellular growth and survival: Application to proliferation and cytotoxicity assays

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Activation of pre-synaptic M-type K+ channels inhibits [3H]D-aspartate release by reducing Ca2+ entry through P/Q-type voltage-gated Ca2+ channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

SWISS-MODEL: An automated protein homology-modeling server

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Crystal structure of the sodium–potassium pump

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Roles of transmembrane segment M1 of Na+,K+-ATPase and Ca2-ATPase, the gatekeeper and the pivot.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Amino acids in the TM4-TM5 loop of Na,K-ATPase are important for biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

Recurrent Episodes of Coma: An Unusual Phenotype of Familial Hemiplegic Migraine with Linkage to Chromosome 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0333102411399351

21 January 2018

Identifiers

DOI

10.1177/0333102411399351

1 reference

29 May 2018

1 reference

29 May 2018