(Q48229743)

9 February 2018

title

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. (English)

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9 February 2018

main subject

spinocerebellar ataxia

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14

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9 February 2018

Anna Duarri

object named as

Anna Duarri

1

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Harm H Kampinga

object named as

Harm H Kampinga

17

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Morris A Swertz

16

object named as

Morris A Swertz

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9 February 2018

Justyna Jezierska

2

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9 February 2018

Michiel Fokkens

3

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9 February 2018

Michel Meijer

4

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9 February 2018

Helenius J Schelhaas

5

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9 February 2018

Wilfred F A den Dunnen

6

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9 February 2018

Freerk van Dijk

7

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9 February 2018

Corien Verschuuren-Bemelmans

8

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9 February 2018

Gerard Hageman

9

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9 February 2018

Pieter van de Vlies

10

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9 February 2018

Benno Küsters

11

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9 February 2018

Bart P van de Warrenburg

12

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9 February 2018

Berry Kremer

13

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9 February 2018

Richard J Sinke

15

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9 February 2018

Erik Boddeke

18

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9 February 2018

Dineke S Verbeek

19

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9 February 2018

publication date

1 December 2012

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9 February 2018

published in

Annals of Neurology

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9 February 2018

volume

72

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9 February 2018

issue

6

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9 February 2018

page(s)

870-880

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9 February 2018

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

cites work

1 reference

Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

21 January 2018

1 reference

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement

21 January 2018

1 reference

Emerging pathogenic pathways in the spinocerebellar ataxias

21 January 2018

1 reference

Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias

21 January 2018

1 reference

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

21 January 2018

1 reference

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

21 January 2018

1 reference

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

21 January 2018

1 reference

SCA19 and SCA22: evidence for one locus with a worldwide distribution.

21 January 2018

1 reference

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia.

21 January 2018

1 reference

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

21 January 2018

1 reference

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

21 January 2018

1 reference

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

21 January 2018

1 reference

Palmitoylation of KChIP splicing variants is required for efficient cell surface expression of Kv4.3 channels

21 January 2018

1 reference

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

21 January 2018

1 reference

Light and electron microscopic analysis of KChIP and Kv4 localization in rat cerebellar granule cells

21 January 2018

1 reference

A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels.

21 January 2018

1 reference

Modulation of A-type potassium channels by a family of calcium sensors

21 January 2018

1 reference

Structural basis for modulation of Kv4 K+ channels by auxiliary KChIP subunits

21 January 2018

1 reference

Regulation of ion channel expression by cytoplasmic subunits

21 January 2018

1 reference

A fundamental role for KChIPs in determining the molecular properties and trafficking of Kv4.2 potassium channels

21 January 2018

1 reference

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

21 January 2018

1 reference

The compartmentalization of the cerebellum

21 January 2018

1 reference

The neuronal Kv4 channel complex

21 January 2018

1 reference

KChIPs and Kv4 alpha subunits as integral components of A-type potassium channels in mammalian brain

21 January 2018

1 reference

Funding for malaria genome sequencing

21 January 2018

1 reference

Structure and function of Kv4-family transient potassium channels

21 January 2018

1 reference

Regulation of dendritic excitability by activity-dependent trafficking of the A-type K+ channel subunit Kv4.2 in hippocampal neurons

21 January 2018

1 reference

Molecular physiology and modulation of somatodendritic A-type potassium channels

21 January 2018

1 reference

Deletion of Kv4.2 gene eliminates dendritic A-type K+ current and enhances induction of long-term potentiation in hippocampal CA1 pyramidal neurons.

21 January 2018

1 reference

Kv4.3 is not required for the generation of functional Ito,f channels in adult mouse ventricles

21 January 2018

1 reference

Electrical activity in early neuronal development

21 January 2018

1 reference

Time and tide in cerebellar memory formation

21 January 2018

1 reference

Synaptic memories upside down: bidirectional plasticity at cerebellar parallel fiber-Purkinje cell synapses

21 January 2018

1 reference

Unfolded proteins and endoplasmic reticulum stress in neurodegenerative disorders

21 January 2018

1 reference

Pharmacological treatment of the ion transport defect in cystic fibrosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.23700

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9 February 2018

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9 February 2018