(Q33417896)

26 July 2017

title

High-throughput mutational analysis of TOR1A in primary dystonia (English)

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26 July 2017

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11

Ryan J Uitti

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26 July 2017

10

Zbigniew K Wszolek

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26 July 2017

3

Joel S Perlmutter

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26 July 2017

1

Jianfeng Xiao

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26 July 2017

5

Samer D Tabbal

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26 July 2017

7

Randal C Paniello

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26 July 2017

9

Sat Dev Batish

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26 July 2017

12

Peter Hedera

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26 July 2017

14

Daniel Tarsy

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26 July 2017

16

Karen P Frei

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26 July 2017

20

Mark S LeDoux

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26 July 2017

Robert W Bastian

2

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26 July 2017

Brad A Racette

4

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26 July 2017

Morvarid Karimi

6

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26 July 2017

Andrew Blitzer

8

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26 July 2017

David K Simon

13

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26 July 2017

Daniel D Truong

15

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26 July 2017

Ronald F Pfeiffer

17

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26 July 2017

Suzhen Gong

18

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26 July 2017

Yu Zhao

19

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26 July 2017

publication date

11 March 2009

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26 July 2017

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26 July 2017

volume

10

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26 July 2017

page(s)

24

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Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms.

26 July 2017

cites work

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High-resolution DNA melting analysis for simple and efficient molecular diagnostics

21 June 2018

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The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

A family study on primary blepharospasm

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Epidemiology of primary dystonia

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Dystonia genotypes, phenotypes, and classification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

High-resolution genotyping by amplicon melting analysis using LCGreen

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Inherited and de novo mutations in sporadic cases of DYT1-dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

DYT1 mutation in primary torsion dystonia in a Serbian population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

The DYT1 phenotype and guidelines for diagnostic testing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Blepharospasm: a review of 264 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Concept and classification of dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

Idiopathic cervical dystonia: clinical characteristics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

The role of DYT1 in primary torsion dystonia in Europe

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

Mutations in DYT1: extension of the phenotypic and mutational spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

DYT1 mutation in a cohort of Taiwanese primary dystonias

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

Effects of spironolactone on electrical and structural remodeling of atrium in congestive heart failure dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

Torsin A haplotype predisposes to idiopathic dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-24

A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2661056

The DYT1 GAG deletion is infrequent in sporadic and familial writer' s cramp

31 October 2018

1 reference

12 December 2020

DYT1 mutation in Japanese patients with primary torsion dystonia

1 reference

12 December 2020

Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm

1 reference

12 December 2020

Primary torsion dystonia due to the TOR1A GAG deletion in an Irish family

1 reference

12 December 2020

Focal and segmental primary dystonia in north-western Germany--a clinico-genetic study

1 reference

12 December 2020

DYT1 mutation in Korean primary dystonia patients

1 reference

12 December 2020

Spasmodic torticollis: clinical and biologic features and their implications for focal dystonia

1 reference

12 December 2020

Classification of dystonia

1 reference

12 December 2020

Phenotypic variability of the DYT1 mutation in German dystonia patients

1 reference

12 December 2020

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

1 reference

12 December 2020

Clinical and genetic evaluation in a French population presenting with primary focal dystonia

1 reference

12 December 2020

Lack of association with TorsinA haplotype in German patients with sporadic dystonia

1 reference

12 December 2020

First determination of the incidence of the uniqueTOR1A gene mutation, c.907delGAG, in a Mediterranean population

1 reference

12 December 2020

Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis.

1 reference

12 December 2020

Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report

1 reference

12 December 2020

Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations

1 reference

12 December 2020

DYT1 mutations amongst early onset primary dystonia patients in China

1 reference

12 December 2020

Frequency of the DYT1 mutation in primary torsion dystonia without family history

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-10-24

1 reference

Dimensions Publication ID

26 July 2017

0 references

1 reference

26 July 2017

1 reference