Associated Papers
Preliminary study on pathogenic mechanism of first Chinese family with PNKD.
Chen F et al.
Translational Neuroscience, 2022
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Garone G et al.
International Journal of Molecular Sciences, 2020
Progressive nonparoxysmal chorea and dystonia due to myofibrillogenesis regulator-1 gene mutation.
Pandey S et al.
Parkinsonism & Related Disorders, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.
Sun N et al.
Molecular Psychiatry, 2018
Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Tian WT et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland.
Liang S et al.
Brain Research, 2015
[Dystonia genes and elucidation of their roles in dystonia pathogenesis].
Kawarai T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families.
Pons R et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2012
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.
Shen Y et al.
Human Molecular Genetics, 2011
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
Ghezzi D et al.
Human Molecular Genetics, 2009