Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Paroxysmal dystonia results from the loss of RIM4 in Purkinje cells.
Kim H et al.
Brain : a Journal of Neurology, 2024
Sertraline treatment for paroxysmal nonkinesigenic dyskinesia comorbid with anxiety and depression.
Hara M et al.
Eneurologicalsci, 2024
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
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
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR et al.
Brain : a Journal of Neurology, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland.
Liang S et al.
Brain Research, 2015
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.
Ghezzi D et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Genetic animal models of dystonia: common features and diversities.
Richter F et al.
Progress in Neurobiology, 2014
Paroxysmal nonkinesigenic dyskinesia with tremor.
Fekete R
Case Reports in Neurological Medicine, 2013
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
Lee HY et al.
The Journal of Clinical Investigation, 2012
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
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.
Szczałuba K et al.
Pediatric Neurology, 2009
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
Ghezzi D et al.
Human Molecular Genetics, 2009
Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia.
Hempelmann A et al.
Neuroscience Letters, 2006
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Lee HY et al.
Human Molecular Genetics, 2004