KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients (Q24324107)

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English	KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients	scientific article

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instance of

scholarly article

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title

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients (English)

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main subject

biophysics

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patient

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Potassium voltage-gated channel subfamily C member 3

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stated in

GOA release 2020-03-11

potassium ion transmembrane transport

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stated in

GOA release 2020-03-11

phenotype

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based on heuristic

inferred from title

author

Alexis Brice

series ordinal

9

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Adam Strzelczyk

object named as

Adam Strzelczyk

series ordinal

7

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Giovanni Stevanin

object named as

Giovanni Stevanin

series ordinal

3

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Alexandra Durr

series ordinal

10

object named as

Alexandra Dürr

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Sylvie Forlani

series ordinal

6

object named as

Sylvie Forlani

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Karla P Figueroa

series ordinal

1

object named as

Karla P Figueroa

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Natali A Minassian

series ordinal

2

object named as

Natali A Minassian

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Katrin Bürk

series ordinal

8

object named as

Katrin Bürk

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Diane M Papazian

series ordinal

11

object named as

Diane M Papazian

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author name string

Michael Waters

series ordinal

4

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Vartan Garibyan

series ordinal

5

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Stefan M Pulst

series ordinal

12

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language of work or name

English

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publication date

February 2010

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published in

Human Mutation

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volume

31

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issue

2

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page(s)

191-6

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cites work

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

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19 March 2017

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

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19 March 2017

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

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19 March 2017

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

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An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

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Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

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19 March 2017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 April 2017

Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis

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Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

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27 September 2017

Protein kinase C modulates inactivation of Kv3.3 channels

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27 September 2017

Spectrin mutations cause spinocerebellar ataxia type 5.

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27 September 2017

Kv3.3 potassium channels in lens epithelium and corneal endothelium

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27 September 2017

Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence

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27 September 2017

Contribution of the S4 segment to gating charge in the Shaker K+ channel.

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30 May 2018

Gating pore current in an inherited ion channelopathy

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29 November 2018

Voltage sensor of Kv1.2: structural basis of electromechanical coupling

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Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma

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29 November 2018

Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel

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reference URL

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retrieved

29 November 2018

Identifiers

DOI

10.1002/HUMU.21165

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4845036

OpenCitations bibliographic resource ID

4845036

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4845036

PMC publication ID

2814913

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4845036

PubMed publication ID

19953606

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4845036

ResearchGate publication ID

40046607

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