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Article

SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease

20 Feb 2019

Abstract excerpt

BACKGROUND: SMPD1 (acid-sphingomyelinase) variants have been associated with Parkinson's disease in recent studies. The objective of this study was to further investigate the role of SMPD1 mutations in PD. METHODS: SMPD1 was sequenced in 3 cohorts (Israel Ashkenazi Jewish cohort, Montreal/Montpellier, and New York), including 1592 PD patients and 975 controls. Additional data were available for 10,709 Ashkenazi...

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PMID: 30788890
DOI: 10.1002/mds.27642

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