(Q42678271)

4 November 2017

title

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family (English)

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4 November 2017

Konrad Oexle

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Juliane Winkelmann

object named as

Juliane Winkelmann

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Peter Lichtner

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object named as

Peter Lichtner

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4 November 2017

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Annette Peters

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4 November 2017

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Nadine Gross

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4 November 2017

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Thomas Wieland

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4 November 2017

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Tim M Strom

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4 November 2017

2

Florian Castrop

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4 November 2017

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Angela Jochim

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4 November 2017

Michael Zech

1

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4 November 2017

Barbara Schormair

3

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4 November 2017

Bernhard Haslinger

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4 November 2017

language of work or name

English

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publication date

20 August 2014

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4 November 2017

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4 November 2017

volume

29

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4 November 2017

issue

12

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4 November 2017

page(s)

1504-1510

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The genetics of dystonia: new twists in an old tale

4 November 2017

cites work

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Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis.

21 January 2018

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Genetic and clinical features of primary torsion dystonia

21 January 2018

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DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

21 January 2018

1 reference

Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp

21 January 2018

1 reference

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

21 January 2018

1 reference

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner

21 January 2018

1 reference

The role of titin in muscular disorders

21 January 2018

1 reference

Titin mutation segregates with hereditary myopathy with early respiratory failure

21 January 2018

1 reference

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

21 January 2018

1 reference

The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment

21 January 2018

1 reference

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

21 January 2018

1 reference

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations

21 January 2018

1 reference

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

21 January 2018

1 reference

Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity

21 January 2018

1 reference

Increased interaction between PACT molecules in response to stress signals is required for PKR activation.

21 January 2018

1 reference

Double-strand RNA dependent protein kinase (PKR) is involved in the extrastriatal degeneration in Parkinson's disease and Huntington's disease

21 January 2018

1 reference

Neuronal phosphorylated RNA-dependent protein kinase in Creutzfeldt-Jakob disease.

21 January 2018

1 reference

The PKR activator PACT is induced by Aβ: involvement in Alzheimer's disease

21 January 2018

1 reference

The role of PACT in the RNA silencing pathway

21 January 2018

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Functions of noncoding RNAs in neural development and neurological diseases

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.25981

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4 November 2017

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