(Q34275865)

1 August 2017

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy (English)

1 reference

1 August 2017

1 reference

5

Sabine Scholl-Bürgi

1 reference

1 August 2017

4

Daniela Karall

1 reference

1 August 2017

Birgit Krabichler

1

1 reference

1 August 2017

Kevin Rostasy

2

1 reference

1 August 2017

Matthias Baumann

3

1 reference

1 August 2017

Christoph Schwarzer

6

1 reference

1 August 2017

Kurt Gautsch

7

1 reference

1 August 2017

Ana Spreiz

8

1 reference

1 August 2017

Dieter Kotzot

9

1 reference

1 August 2017

Johannes Zschocke

10

1 reference

1 August 2017

Christine Fauth

11

1 reference

1 August 2017

Edda Haberlandt

12

1 reference

1 August 2017

language of work or name

English

0 references

publication date

21 May 2012

1 reference

1 August 2017

Annals of Human Genetics

1 reference

1 August 2017

76

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1 August 2017

4

1 reference

1 August 2017

326-331

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Guide to Receptors and Channels (GRAC), 3rd edition

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Targeting of protein ubiquitination by BTB–Cullin 3–Roc1 ubiquitin ligases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Dramatic effect of levetiracetam on epileptic negative myoclonus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Levetiractam in the treatment of two children with myoclonic status epilepticus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in 13q14.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Scaffolding of Keap1 to the actin cytoskeleton controls the function of Nrf2 as key regulator of cytoprotective phase 2 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Neurological channelopathies: new insights into disease mechanisms and ion channel function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

In-depth mutational analysis of the promyelocytic leukemia zinc finger BTB/POZ domain reveals motifs and residues required for biological and transcriptional functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

The polar T1 interface is linked to conformational changes that open the voltage-gated potassium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

The BTB protein MEL-26 is a substrate-specific adaptor of the CUL-3 ubiquitin-ligase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Mechanisms of human inherited epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Inactivation properties of voltage-gated K+ channels altered by presence of beta-subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Potassium channel regulator KCNRG regulates surface expression of Shaker-type potassium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Design, synthesis and characterization of a peptide able to bind proteins of the KCTD family: implications for KCTD-cullin 3 recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

10.1111/J.1469-1809.2012.00710.X

21 January 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference