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A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL.
Finnilä S, Tuisku S, Herva R, Majamaa K. Finnilä S, et al. J Mol Med (Berl). 2001 Nov;79(11):641-7. doi: 10.1007/s001090100268. J Mol Med (Berl). 2001. PMID: 11715067
Therefore we determined the nucleotide sequence in the entire coding region of the patient's mtDNA by conformation-sensitive gel electrophoresis and sequencing. ...
Therefore we determined the nucleotide sequence in the entire coding region of the patient's mtDNA by conformation-sensitive gel elec …
Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region.
Finnilä S, Hassinen IE, Majamaa K. Finnilä S, et al. Mutat Res. 2001 Jun;458(1-2):31-9. doi: 10.1016/s1383-5726(01)00012-7. Mutat Res. 2001. PMID: 11406419
Five patients with a migrainous stroke belonged to subcluster U5 (P=0.006; Fisher's exact test). Many unique mutations were found among the patients with an occipital stroke including two tRNA mutations that have previously been suggested to be pathogenic. ...
Five patients with a migrainous stroke belonged to subcluster U5 (P=0.006; Fisher's exact test). Many unique mutations were found amo …
Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy.
Remes AM, Finnilä S, Mononen H, Tuominen H, Takalo R, Herva R, Majamaa K. Remes AM, et al. Neurology. 2004 Jul 27;63(2):234-40. doi: 10.1212/01.wnl.0000129988.68657.fa. Neurology. 2004. PMID: 15277614
Evidence for mtDNA admixture between the Finns and the Saami.
Meinilä M, Finnilä S, Majamaa K. Meinilä M, et al. Hum Hered. 2001;52(3):160-70. doi: 10.1159/000053372. Hum Hered. 2001. PMID: 11588400
Phylogenetic network for European mtDNA.
Finnilä S, Lehtonen MS, Majamaa K. Finnilä S, et al. Am J Hum Genet. 2001 Jun;68(6):1475-84. doi: 10.1086/320591. Epub 2001 May 10. Am J Hum Genet. 2001. PMID: 11349229 Free PMC article.
Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population.
Finnilä S, Majamaa K. Finnilä S, et al. J Hum Genet. 2001;46(2):64-9. doi: 10.1007/s100380170110. J Hum Genet. 2001. PMID: 11281414
An association between mitochondrial DNA (mtDNA) mutations 11778G>A and 14484T>C and mtDNA haplogroup J suggests that this haplogroup harbors substitutions capable of modifying the phenotype of Leber's disease. ...
An association between mitochondrial DNA (mtDNA) mutations 11778G>A and 14484T>C and mtDNA haplogroup J suggests that this haplogroup …
Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis.
Finnilä S, Hassinen IE, Ala-Kokko L, Majamaa K. Finnilä S, et al. Am J Hum Genet. 2000 Mar;66(3):1017-26. doi: 10.1086/302802. Am J Hum Genet. 2000. PMID: 10712215 Free PMC article.
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
The 8993T-->C mutation in mitochondrial DNA (mtDNA) has been described previously to be associated with infantile- or childhood-onset phenotypes, ranging from Leigh's syndrome to neurogenic weakness, ataxia, and retinitis pigmentosa syndrome. ...
The 8993T-->C mutation in mitochondrial DNA (mtDNA) has been described previously to be associated with infantile- or childhood-onset phe …
Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.
Autere J, Moilanen JS, Finnilä S, Soininen H, Mannermaa A, Hartikainen P, Hallikainen M, Majamaa K. Autere J, et al. Hum Genet. 2004 Jun;115(1):29-35. doi: 10.1007/s00439-004-1123-9. Epub 2004 Apr 24. Hum Genet. 2004. PMID: 15108120
The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinson's disease (PD), but no mutations have been identified in genes encoding complex I subunits. ...Our analysis revealed that the haplogroup clusters HV a …
The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinson's disease …
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