(Q34114507)

31 July 2017

title

The phenotypic spectrum of DYT24 due to ANO3 mutations (English)

1 reference

Kailash Phatechand Bhatia

31 July 2017

author

11

object named as

Kailash P Bhatia

1 reference

31 July 2017

Nicholas W Wood

10

0 references

Maria Stamelou

1

object named as

Maria Stamelou

1 reference

31 July 2017

Gavin Charlesworth

2

1 reference

31 July 2017

Carla Cordivari

3

1 reference

31 July 2017

Susanne A Schneider

4

1 reference

31 July 2017

Georg Kägi

5

1 reference

31 July 2017

Una-Marie Sheerin

6

1 reference

31 July 2017

Ignacio Rubio-Agusti

7

1 reference

31 July 2017

Amit Batla

8

1 reference

31 July 2017

Henry Houlden

9

1 reference

31 July 2017

language of work or name

English

0 references

publication date

17 January 2014

1 reference

31 July 2017

1 reference

31 July 2017

volume

29

1 reference

31 July 2017

issue

7

1 reference

31 July 2017

page(s)

928-934

1 reference

Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

Mutations in GNAL cause primary torsion dystonia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

THAP1 mutations and dystonia phenotypes: genotype phenotype correlations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

Tremor--some controversial aspects.

28 July 2018

1 reference

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

21 January 2018

1 reference

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.

21 January 2018

1 reference

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

21 January 2018

1 reference

Late onset rest-tremor in DYT1 dystonia.

21 January 2018

1 reference

Overview of primary monogenic dystonia

21 January 2018

1 reference

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

21 January 2018

1 reference

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia

21 January 2018

1 reference

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

Mutation screening of the DYT6/THAP1 gene in Italy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150528

Cortical excitability in DYT-11 positive myoclonus dystonia

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24442708

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24442708

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24442708

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MDS.25802

1 reference

31 July 2017

1 reference

31 July 2017

1 reference