Articles with "variants parkinson" as a keyword



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MIDN locus structural variants and Parkinson's Disease risk

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Published in 2020 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51012

Abstract: Funding Information This work was supported in part by the Intramural Research Programs of the National Institute of Neurological Disorders and Stroke (NINDS), the National Institute on Aging (NIA), and the National Institute of Environmental… read more here.

Keywords: national institute; midn locus; locus structural; variants parkinson ... See more keywords
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GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes

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Published in 2020 at "Movement Disorders"

DOI: 10.1002/mds.28225

Abstract: Alterations in the GBA gene (NM_000157.3) are the most important genetic risk factor for Parkinson's disease (PD). Biallelic GBA mutations cause the lysosomal storage disorder Gaucher's disease. The GBA variants p.E365K and p.T408M are associated… read more here.

Keywords: disease clinical; variants parkinson; clinical metabolomic; gba variants ... See more keywords
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No Association Between Rare TWNK Variants and Parkinson's Disease in European Cohorts

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Published in 2022 at "Movement Disorders"

DOI: 10.1002/mds.29216

Abstract: and colleagues 1 reporting variants in TWNK and their association with Parkinson ’ s disease (PD). The authors studied the frequency of rare TWNK variants in an Italian cohort of patients with PD, reporting six… read more here.

Keywords: twnk variants; twnk; rare twnk; parkinson disease ... See more keywords