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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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2018
2018
The prevalence of PRKRA mutations in idiopathic dystonia.
Highly Cited
2016
Highly Cited
2016
Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for 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… 
Review
2013
Review
2013
Genetics of dystonia: What's known? What's new? What's next?
Although all forms of dystonia share the core clinical features of involuntary dystonic dyskinesia, there is not only marked… 
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… 
Review
2011
Review
2011
Molecular pathways in dystonia
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… 
Highly Cited
2008
Highly Cited
2008
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
Highly Cited
2008
Highly Cited
2008
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient
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