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Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?

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dc.contributor.authorDjarmati, Ana (6508159253)
dc.contributor.authorHedrich, Katja (6603876745)
dc.contributor.authorSvetel, Marina (6701477867)
dc.contributor.authorLohnau, Thora (8945753200)
dc.contributor.authorSchwinger, Eberhard (7007034260)
dc.contributor.authorRomac, Stanka (7003983993)
dc.contributor.authorPramstaller, Peter P. (7003683728)
dc.contributor.authorKostić, Vladimir (35239923400)
dc.contributor.authorKlein, Christine (26642933500)
dc.date.accessioned2025-07-02T12:49:43Z
dc.date.available2025-07-02T12:49:43Z
dc.date.issued2006
dc.description.abstractPINK1 mutations cause recessively inherited early-onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patients for mutations in this gene and found three heterozygous mutation carriers. Two of these patients shared mutations with their affected relatives, further suggesting that heterozygous PINK1 mutations may act as a s susceptibility factor for EOPD. © 2006 Movement Disorder Society.
dc.identifier.urihttps://doi.org/10.1002/mds.20977
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-33750282266&doi=10.1002%2fmds.20977&partnerID=40&md5=adac5be61de385a04d1adf671ede07c3
dc.identifier.urihttps://remedy.med.bg.ac.rs/handle/123456789/14327
dc.subjectEarly-onset Parkinson's disease
dc.subjectHeterozygous mutations
dc.subjectPARK6
dc.subjectPINK1
dc.subjectSerbia
dc.subjectSouth Tyrol
dc.titleHeterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?
dspace.entity.typePublication

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