The prevalence of PRKRA mutations in idiopathic dystonia

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Michel Satya Naslavsky, Guilherme Lopes Yamamoto, Tatiana Ferreira de Almeida et al. · Human Mutation · 2017 · 289 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Sarah Camargos, Sonja W. Scholz, Javier Simón‐Sánchez et al. · The Lancet Neurology · 2008 · 228 citations

Life Sciences, Neurology, Neuroscience +12

Altered Activation of Protein Kinase PKR and Enhanced Apoptosis in Dystonia Cells Carrying a Mutation in PKR Activator Protein PACT

Lauren S. Vaughn, D. Cristopher Bragg, Nutan Sharma et al. · Journal of Biological Chemistry · 2015 · 60 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +17

DYT16 revisited: Exome sequencing identifies <i>PRKRA</i> mutations in a European dystonia family

Michael Zech, Florian Castrop, Barbara Schormair et al. · Movement Disorders · 2014 · 53 citations

Life Sciences, Genetics, Molecular Genetics +12

A novel presentation of DYT 16: Acute onset in infancy and association with MRI abnormalities

Monica E. Lemmon, Bennett Lavenstein, Carolyn Applegate et al. · Movement Disorders · 2013 · 33 citations

Medicine, Pediatrics, Radiology +14