About 8 results

ALLMedicine™ Adult-onset Dystonia-parkinsonism Center

Research & Reviews  3 results

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures wi...
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 ...

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated n...
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 ...

Characterization of PLA2G6 as a locus for dystonia-parkinsonism.
Annals of Neurology; Paisan-Ruiz C, Bhatia KP et. al.

Jun 24th, 2008 - Although many recessive loci causing parkinsonism dystonia have been identified, these do not explain all cases of the disorder. We used homozygosity mapping and mutational analysis in three individuals from two unrelated families who presented wi...

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