ALLMedicine™ Adult-onset Dystonia-parkinsonism Center
Research & Reviews 2 results
Brain & Development; Marzin P, Mignot C et. al.
Jun 5th, 2018 - Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation sequencing allowed the description of ...
Journal of Medical Genetics; Davids M, Kane MS et. al.
Dec 17th, 2015 - Mutations in PLA2G6, which encodes the calcium-independent phospholipase A2 group VI, cause neurodegeneration and diffuse cortical Lewy body formation by a yet undefined mechanism. We assessed whether altered protein glycosylation due to abnormal ...