(Q77615046)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11835464%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

Late-onset axial jerky dystonia due to the DYT1 deletion (English)

1 reference

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7 December 2019

5

1 reference

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7 December 2019

1

Patrick F Chinnery

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11835464%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

author name string

Paul J Reading

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11835464%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Emma L McCarthy

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11835464%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Ann Curtis

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11835464%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

publication date

1 January 2002

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7 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11835464%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

volume

17

1 reference

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7 December 2019

issue

1

1 reference

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7 December 2019

page(s)

196-198

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11835464%20AND%20SRC:MED&resulttype=core&format=json

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

7 December 2019

cites work

1 reference

The role of DYT1 in primary torsion dystonia in Europe.

21 January 2018

1 reference

The DYT1 phenotype and guidelines for diagnostic testing

21 January 2018

1 reference

DYT1 mutation in French families with idiopathic torsion dystonia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.10021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11835464%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference