Associated Papers
PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases.
Kalampokini S et al.
Neuropediatrics, 2024
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.
Galosi S et al.
Frontiers in Neurology, 2022
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.
Esposito S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Mencacci NE et al.
American Journal of Human Genetics, 2016
Select a paper to view details