A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3. (Q83387667)

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21 January 2020

title

A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3. (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21301909%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

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Nina Norgren

1

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21 January 2020

Emma Mattson

series ordinal

2

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21 January 2020

Lars Forsgren

series ordinal

3

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21 January 2020

Monica Holmberg

series ordinal

4

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21 January 2020

publication date

8 February 2011

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21 January 2020

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21 January 2020

volume

12

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21 January 2020

issue

2

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21 January 2020

page(s)

137-143

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https://scigraph.springernature.com/pub.10.1007/s10048-011-0274-9

21 January 2020

exact match

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cites work

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

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12 December 2020

Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope

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12 December 2020

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

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12 December 2020

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton

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12 December 2020

LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation

1 reference

12 December 2020

Autosomal dominant torsion dystonia in a Swedish family

1 reference

12 December 2020

Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family

1 reference

12 December 2020

The epidemiology of primary dystonia: current evidence and perspectives

1 reference

12 December 2020

Amphiphysin, a novel protein associated with synaptic vesicles

1 reference

12 December 2020

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope

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12 December 2020

EFNS guidelines on diagnosis and treatment of primary dystonias

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12 December 2020

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

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12 December 2020

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

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12 December 2020

The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes

1 reference

12 December 2020

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

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12 December 2020

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

1 reference

12 December 2020

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

1 reference

12 December 2020

Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

1 reference

12 December 2020

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews

1 reference

12 December 2020

TorsinA and dystonia: from nuclear envelope to synapse.

1 reference

12 December 2020

A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation

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12 December 2020

Epidemiology of focal and generalized dystonia in Rochester, Minnesota

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12 December 2020

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

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12 December 2020

TorsinA in the nuclear envelope

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12 December 2020

Concept and classification of dystonia

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12 December 2020

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

1 reference

12 December 2020

The monogenic primary dystonias

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12 December 2020

10.1007/S10048-011-0274-9

Identifiers

DOI

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21 January 2020

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