(Q77840758)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11921121%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

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

1 reference

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8 December 2019

1 reference

Xandra O. Breakefield

5

object named as

Xandra O Breakefield

1 reference

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8 December 2019

7

Laurie Ozelius

1 reference

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8 December 2019

author name string

Puneet Opal

1

1 reference

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8 December 2019

Ron Tintner

2

1 reference

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8 December 2019

Joseph Jankovic

3

1 reference

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8 December 2019

Joanne Leung

4

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8 December 2019

Jennifer Friedman

6

1 reference

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8 December 2019

publication date

1 March 2002

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8 December 2019

1 reference

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8 December 2019

volume

17

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8 December 2019

issue

2

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8 December 2019

page(s)

339-345

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Tolcapone: COMT inhibition for the treatment of Parkinson's disease

8 December 2019

cites work

1 reference

The DYT1 phenotype and guidelines for diagnostic testing

21 January 2018

1 reference

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 January 2018

1 reference

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

21 January 2018

1 reference

The role of DYT1 in primary torsion dystonia in Europe.

21 January 2018

1 reference

DYT1 mutation in French families with idiopathic torsion dystonia

21 January 2018

1 reference

DYT1 mutation in Japanese patients with primary torsion dystonia

21 January 2018

1 reference

Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations

21 January 2018

1 reference

Phenotypic variability of the DYT1 mutation in German dystonia patients

21 January 2018

1 reference

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

21 January 2018

1 reference

Ethnic variation in the clinical expression of idiopathic torsion dystonia

21 January 2018

1 reference

Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration

21 January 2018

1 reference

A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia

21 January 2018

1 reference

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

21 January 2018

1 reference

Status dystonicus: the syndrome and its management.

21 January 2018

1 reference

Rhabdomyolysis due to hereditary torsion dystonia

21 January 2018

1 reference

Dystonic storms: a practical management problem

21 January 2018

1 reference

Intrathecal baclofen in the treatment of dystonic storm

21 January 2018

1 reference

Severe dystonia and myoglobinuria

21 January 2018

1 reference

Post-traumatic movement disorders: central and peripheral mechanisms

21 January 2018

1 reference

Posttraumatic movement disorders: a review

21 January 2018

1 reference

Can peripheral trauma induce dystonia and other movement disorders? Yes!

21 January 2018

1 reference

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

21 January 2018

1 reference

Dopa-responsive dystonia: recent advances and remaining issues to be addressed.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.10096

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11921121%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference