(Q28249383)

9

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Justus L Groen

object named as

Justus L Groen

1

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Raoul Hennekam

11

object named as

Raoul C M Hennekam

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Marina A. J. Tijssen

14

object named as

Marina A J Tijssen

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author name string

Arturo Andrade

2

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Katja Ritz

3

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Hamid Jalalzadeh

4

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Martin Haagmans

5

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Ted E J Bradley

6

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Aldo Jongejan

7

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Dineke S Verbeek

8

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Sylvia Denome

10

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Diane Lipscombe

The crystal structure of a voltage-gated sodium channel

12

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language of work or name

English

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publication date

15 February 2015

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published in

Human Molecular Genetics

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volume

24

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issue

4

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page(s)

987-93

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Strong synaptic transmission impact by copy number variations in schizophrenia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Alternative splicing in the C-terminus of CaV2.2 controls expression and gating of N-type calcium channels

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Suppression of inflammatory and neuropathic pain symptoms in mice lacking the N-type Ca2+ channel

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Genetic heterogeneity in Italian families with familial hemiplegic migraine

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

N-type calcium channel alpha1B subunit (Cav2.2) knock-out mice display hyperactivity and vigilance state differences

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Control of neuronal voltage-gated calcium ion channels from RNA to protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Alternative splicing: functional diversity among voltage-gated calcium channels and behavioral consequences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Cognition and psychopathology in myoclonus-dystonia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Alternative splicing controls G protein-dependent inhibition of N-type calcium channels in nociceptors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Requirement for the synaptic protein interaction site for reconstitution of synaptic transmission by P/Q-type calcium channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Stabilization of ion selectivity filter by pore loop ion pairs in an inwardly rectifying potassium channel

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Interactions of protons with single open L-type calcium channels. pH dependence of proton-induced current fluctuations with Cs+, K+, and Na+ as permeant ions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Either N- or P-type calcium channels mediate GABA release at distinct hippocampal inhibitory synapses.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Mechanisms of interaction of permeant ions and protons with dihydropyridine-sensitive calcium channels

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817404

Conformational changes associated with ion permeation in L-type calcium channels

27 November 2018

1 reference

12 December 2020

The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population

1 reference

12 December 2020

A new familial syndrome with dystonia and lower limb action myoclonus

1 reference

12 December 2020

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

1 reference

12 December 2020

Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDU513

1 reference

1 reference

1 reference

PubMed publication ID

25296916

1 reference