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Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
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.
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
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Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
Rantamäki MT, Soini HK, Finnilä SM, Majamaa K, Udd B.
Rantamäki MT, et al.
Ann Neurol. 2005 Aug;58(2):337-40. doi: 10.1002/ana.20555.
Ann Neurol. 2005.
PMID: 16049925
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[Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity].
Hakonen AH, Isohanni P, Rantamäki M, Kälviäinen R, Nordin A, Uusimaa J, Paetau A, Udd B, Pihko H, Wartiovaara A.
Hakonen AH, et al. Among authors: rantamaki m.
Duodecim. 2010;126(13):1552-9.
Duodecim. 2010.
PMID: 20695297
Finnish.
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Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.
Rantamäki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B.
Rantamäki M, et al.
Neurology. 2001 Sep 25;57(6):1043-9. doi: 10.1212/wnl.57.6.1043.
Neurology. 2001.
PMID: 11571332
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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
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Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.
Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, Vierimaa O, Penttinen M, Savontaus ML.
Juvonen V, et al. Among authors: rantamaki m.
Ann Neurol. 2000 Sep;48(3):354-61.
Ann Neurol. 2000.
PMID: 10976642
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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.
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