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DYSTONIA 16 (disorder)

Known as: DYSTONIA 16, DYT16 
National Institutes of Health

Related topics

Related topics

14 relations
Abnormal pyramidal signsAutosomal recessive inheritanceBradykinesiaDeglutition Disorders

Broader (1)

Dystonia Disorders

Papers overview

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2019
2019
A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis
Protein Activator (PACT) activates the interferon (IFN)‐induced double‐stranded (ds) RNA‐activated protein kinase (PKR) in… 
2018
2018
[A rare early-onset dystonia (DYT16) in a Portuguese girl].
Distonia temprana poco frecuente (DYT16) en una niña portuguesa.  
2017
2017
The prevalence of PRKRA mutations in idiopathic dystonia.
2016
2016
PRKRA Mutation Causing Early‐Onset Generalized Dystonia‐Parkinsonism (DYT16) in an Italian Family
Dystonia syndromes are clinically and genetically heterogeneous. DYT16 is caused by mutations in the PRKRA gene, with 1 missense… 
2016
2016
Thiamine and dystonia 16
Primary torsion dystonia is a movement disorder characterised by sustained or intermittent involuntary muscle contractions… 
2012
2012
DYT16: the original cases
Objective DYT16 is an autosomal recessive dystonia-parkinsonism due to putative mutations at PRKRA gene. The aim of this study… 
Highly Cited
2011
Highly Cited
2011
Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
The designation, DYT4, was assigned to an Australian family with whispering dysphonia. The role of known causes of dystonia has… 
Review
2010
Review
2010
Dystonia‐plus syndromes
Dystonia‐plus syndromes represent a heterogeneous group of diseases, where dystonia is accompanied by other neurological features… 
2009
2009
[Genetics of dystonia].
The dystonias comprise a heterogeneous group of movement disorders. In contrast to the frequent sporadic forms, a variety of rare… 
2008
2008
DYT16: a new twist to familial dystonia
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