(Q33857030)

29 July 2017

title

Mutations in KCND3 cause spinocerebellar ataxia type 22. (English)

1 reference

29 July 2017

main subject

spinocerebellar ataxia

1 reference

18

0 references

Yi-Chung Lee

Yi-Chung Lee

1

0 references

Margit Burmeister

Margit Burmeister

20

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Giovanni Stevanin

Giovanni Stevanin

21

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Alexandra Durr

2

Alexandra Durr

1 reference

29 July 2017

13

Emeline Mundwiller

1 reference

29 July 2017

16

Christelle Tesson

1 reference

29 July 2017

10

Marie-Lorraine Monin

1 reference

29 July 2017

8

Yaeko Ichikawa

1 reference

29 July 2017

9

Jun Goto

1 reference

29 July 2017

22

Bing-Wen Soong

1 reference

29 July 2017

Karen Majczenko

3

1 reference

29 July 2017

Yen-Hua Huang

4

1 reference

29 July 2017

Yu-Chao Liu

5

1 reference

29 July 2017

Cheng-Chang Lien

6

1 reference

29 July 2017

Pei-Chien Tsai

7

1 reference

29 July 2017

Jun Z Li

11

1 reference

29 July 2017

Ming-Yi Chung

12

1 reference

29 July 2017

Vikram Shakkottai

14

1 reference

29 July 2017

Tze-Tze Liu

15

1 reference

29 July 2017

Yi-Chun Lu

17

1 reference

29 July 2017

Shoji Tsuji

19

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29 July 2017

publication date

1 December 2012

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29 July 2017

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29 July 2017

volume

72

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29 July 2017

issue

6

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29 July 2017

page(s)

859-869

1 reference

describes a project that uses

29 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4085146/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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5 July 2018

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5 July 2018

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Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

5 July 2018

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5 July 2018

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Molecular dissection of I(A) in cortical pyramidal neurons reveals three distinct components encoded by Kv4.2, Kv4.3, and Kv1.4 alpha-subunits

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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Up-regulation of the Kv3.4 potassium channel subunit in early stages of Alzheimer's disease.

5 July 2018

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Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1

5 July 2018

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5 July 2018

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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

5 July 2018

1 reference

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Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3

5 July 2018

1 reference

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Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA)

5 July 2018

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Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function

5 July 2018

1 reference

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5 July 2018

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5 July 2018

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5 July 2018

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Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel

5 July 2018

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Cloning, expression and CNS distribution of Kv4.3, an A-type K+ channel alpha subunit

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Contrasting expression of Kv4.3, an A-type K+ channel, in migrating Purkinje cells and other post-migratory cerebellar neurons

21 January 2018

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The twisted ion-permeation pathway of a resting voltage-sensing domain

21 January 2018

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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

21 January 2018

1 reference

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.

21 January 2018

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Striatal potassium channel dysfunction in Huntington's disease transgenic mice

21 January 2018

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21 January 2018

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Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6

29 October 2018

1 reference

PubMed

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.23701

1 reference

29 July 2017

1 reference

29 July 2017

1 reference