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[New adult-onset ataxia in a Finnish family].
Rantamäki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B. Rantamäki M, et al. Duodecim. 2002;118(20):2115-22. Duodecim. 2002. PMID: 12463002 Finnish. No abstract available.
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Hakonen AH, et al. Among authors: rantamaki m. Am J Hum Genet. 2005 Sep;77(3):430-41. doi: 10.1086/444548. Epub 2005 Jul 27. Am J Hum Genet. 2005. PMID: 16080118 Free PMC article.
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C. Van Goethem G, et al. Among authors: rantamaki m. Neurology. 2004 Oct 12;63(7):1251-7. doi: 10.1212/01.wnl.0000140494.58732.83. Neurology. 2004. PMID: 15477547
Do carriers of POLG mutation W748S have disease manifestations?
Rantamäki M, Luoma P, Virta JJ, Rinne JO, Paetau A, Suomalainen A, Udd B. Rantamäki M, et al. Clin Genet. 2007 Dec;72(6):532-7. doi: 10.1111/j.1399-0004.2007.00908.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894835