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About 6 results

ALLMedicine™ Adult-onset Dystonia-parkinsonism Center

Research & Reviews  3 results

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures wi...
https://doi.org/10.1016/j.braindev.2018.05.008
Brain & Development; Marzin P, Mignot C et. al.

Jun 4th, 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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535303
Journal of Medical Genetics; Davids M, Kane MS et. al.

Dec 16th, 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 ...

Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration ...
https://doi.org/10.1016/j.parkreldis.2015.01.010
Parkinsonism & Related Disorders; Kim YJ, Lyoo CH et. al.

Jan 30th, 2015 - PLA2G6-associated neurodegeneration (PLAN) encompasses infantile- or atypical neuroaxonal dystrophy, and adult-onset dystonia-parkinsonism. Examination of the intrafamilial phenotypic variability of PLAN by neuroimaging data and background genetic...

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Clinicaltrials.gov  3 results

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures wi...
https://doi.org/10.1016/j.braindev.2018.05.008
Brain & Development; Marzin P, Mignot C et. al.

Jun 4th, 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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535303
Journal of Medical Genetics; Davids M, Kane MS et. al.

Dec 16th, 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 ...

Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration ...
https://doi.org/10.1016/j.parkreldis.2015.01.010
Parkinsonism & Related Disorders; Kim YJ, Lyoo CH et. al.

Jan 30th, 2015 - PLA2G6-associated neurodegeneration (PLAN) encompasses infantile- or atypical neuroaxonal dystrophy, and adult-onset dystonia-parkinsonism. Examination of the intrafamilial phenotypic variability of PLAN by neuroimaging data and background genetic...

see more →