(Q34398504)

1 August 2017

title

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel (English)

1 reference

1 August 2017

1 reference

Stuart Pickering-Brown

7

1 reference

1 August 2017

Daniah Trabzuni

3

0 references

Kin Y Mok

Kin Y Mok

1

0 references

Monty Silverdale

Monty Silverdale

Kailash Phatechand Bhatia

8

0 references

Kailash P Bhatia

10

0 references

Mark J Edwards

Mark Edwards

5

0 references

John Anthony Hardy

9

John Hardy

1 reference

1 August 2017

4

Maria Stamelou

1 reference

1 August 2017

2

Susanne A Schneider

1 reference

1 August 2017

Dalia Kasperaviciute

6

1 reference

1 August 2017

language of work or name

English

0 references

publication date

13 November 2013

1 reference

1 August 2017

1 reference

1 August 2017

volume

29

1 reference

1 August 2017

issue

2

1 reference

1 August 2017

page(s)

245-251

1 reference

Mutations in GNAL cause primary torsion dystonia

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

An anatomically comprehensive atlas of the adult human brain transcriptome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Landscape of transcription in human cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Mutations in CIZ1 cause adult onset primary cervical dystonia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

LocusZoom: regional visualization of genome-wide association scan results

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Mathematical properties of the r2 measure of linkage disequilibrium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

PLINK: a tool set for whole-genome association and population-based linkage analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Prevalence of cervical dystonia and spasmodic torticollis in the United States general population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Complement factor H polymorphism in age-related macular degeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Epidemiology of primary dystonia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

A prevalence study of primary dystonia in eight European countries

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

G(olf) and Gs in rat basal ganglia: possible involvement of G(olf) in the coupling of dopamine D1 receptor with adenylyl cyclase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

6 July 2018

Genetics of dystonia.

1 reference

Quality control for genome-wide association studies

21 January 2018

1 reference

Genetic analysis of three patients with an 18p- syndrome and dystonia

21 January 2018

1 reference

Allele frequencies and the r2 measure of linkage disequilibrium: impact on design and interpretation of association studies.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208301

Phenotypes and genetic architecture of focal primary torsion dystonia

27 October 2018

1 reference

Classification of dystonia

21 January 2018

1 reference

12 December 2020

Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution

1 reference

12 December 2020

An epidemiologic survey of dystonia within the entire population of northeast England over the past nine years

1 reference

12 December 2020

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable

1 reference

12 December 2020

Identifiers

DOI

10.1002/MDS.25732

1 reference

1 August 2017

1 reference

1 August 2017

1 reference