24 results for author:"Majamaa K." in Literature citations
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| Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus. Soini H.K., Moilanen J.S., Finnila S., Majamaa K. BMC Res Notes 5:350-350(2012) · UniProtKB (69) |
| Molecular genetic analysis of the APP, PSEN1, and PSEN2 genes in Finnish patients with early-onset Alzheimer disease and frontotemporal lobar degeneration. Kruger J., Moilanen V., Majamaa K., Remes A.M. Alzheimer Dis Assoc Disord 26:272-276(2012) · Mapped (13) |
| POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype. Komulainen T., Hinttala R., Karppa M., Pajunen L., Finnila S., Tuominen H., Rantala H., Hassinen I., Majamaa K., Uusimaa J. BMC Neurol 10:29-29(2010) · Mapped (7) |
| Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients. Kaivorinne A.L., Kruger J., Udd B., Majamaa K., Remes A.M. Eur. J. Neurol. 17:1393-1395(2010) · Mapped (3) |
| Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration. Kruger J., Hinttala R., Majamaa K., Remes A.M. Mol Neurodegener 5:8-8(2010) · Mapped (11) |
| Epidemiology and characteristics of occipital brain infarcts in young adults in southwestern Finland. Martikainen M.H., Majamaa K. J. Neurol. 257:259-263(2010) · Mapped (7) |
| Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland. Kaivorinne A.L., Kruger J., Kuivaniemi K., Tuominen H., Moilanen V., Majamaa K., Remes A.M. BMC Neurol 8:48-48(2008) · Mapped (8) |
| Expression of collagen XVII and ubiquitin-binding protein p62 in motor neuron disease. Seppanen A., Pikkarainen M., Hartikainen P., Hofmann S.C., Majamaa K., Alafuzoff I. Brain Res. 1247:171-177(2009) · Mapped (3) |
| Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene. Remes A.M., Hinttala R., Karppa M., Soini H., Takalo R., Uusimaa J., Majamaa K. Parkinsonism Relat. Disord. 14:652-654(2008) · Mapped (7) |
| Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Uusimaa J., Hinttala R., Rantala H., Paivarinta M., Herva R., Roytta M., Soini H., Moilanen J.S., Remes A.M., Hassinen I.E. et al. Epilepsia 49:1038-1045(2008) · Mapped (7) |
| APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. Rovelet-Lecrux A., Frebourg T., Tuominen H., Majamaa K., Campion D., Remes A.M. J. Neurol. Neurosurg. Psychiatr. 78:1158-1159(2007) · Mapped (10) |
| The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I. Kervinen M., Hinttala R., Helander H.M., Kurki S., Uusimaa J., Finel M., Majamaa K., Hassinen I.E. Hum. Mol. Genet. 15:2543-2552(2006) · Mapped (3) |
| Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. Annunen-Rasila J., Finnila S., Mykkanen K., Moilanen J.S., Veijola J., Poyhonen M., Viitanen M., Kalimo H., Majamaa K. |
| Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. Hinttala R., Smeets R., Moilanen J.S., Ugalde C., Uusimaa J., Smeitink J.A., Majamaa K. J. Med. Genet. 43:881-886(2006) · UniProtKB (54) |
| The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event. Behar D.M., Metspalu E., Kivisild T., Achilli A., Hadid Y., Tzur S., Pereira L., Amorim A., Quintana-Murci L., Majamaa K. et al. Am. J. Hum. Genet. 78:487-497(2006) · UniProtKB (38) |
| Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Hakonen A.H., Heiskanen S., Juvonen V., Lappalainen I., Luoma P.T., Rantamaeki M., Van Goethem G., Loefgren A., Hackman P., Paetau A. et al. Am. J. Hum. Genet. 77:430-441(2005) · UniProtKB (1) · Mapped (6) |
| Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Niemi A.K., Majamaa K. Eur. J. Hum. Genet. 13:965-969(2005) · Mapped (5) |
| Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Luoma P., Melberg A., Rinne J.O., Kaukonen J.A., Nupponen N.N., Chalmers R.M., Oldfors A., Rautakorpi I., Peltonen L., Majamaa K. et al. |
| Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ugalde C., Triepels R.H., Coenen M.J., van den Heuvel L.P., Smeets R., Uusimaa J., Briones P., Campistol J., Majamaa K., Smeitink J.A. et al. Ann. Neurol. 54:665-669(2003) · UniProtKB (1) |
| Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Moilanen J.S., Finnila S., Majamaa K. Mol. Biol. Evol. 20:2132-2142(2003) · UniProtKB (100) |
| Molecular genetic analysis of the alpha-synuclein and the parkin gene in Parkinson's disease in Finland. Autere J.M., Hiltunen M.J., Mannermaa A.J., Jakala P.A., Hartikainen P.H., Majamaa K., Alafuzoff I., Soininen H.S. Eur. J. Neurol. 9:479-483(2002) · Mapped (7) |
| Phylogenetic network for European mtDNA. Finnila S., Lehtonen M.S., Majamaa K. Am. J. Hum. Genet. 68:1475-1484(2001) · UniProtKB (89) |
| Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. Tromp G., Wu Y., Prockop D.J., Madhatheri S.L., Kleinert C., Earley J.J., Zhuang J., Noerrgaard O., Darling R.C., Abbott W.M. et al. J. Clin. Invest. 91:2539-2545(1993) · UniProtKB (1) |
| Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Kuivaniemi H., Prockop D.J., Wu Y., Madhatheri S.L., Kleinert C., Earley J.J., Jokinen A., Stolle C.A., Majamaa K., Mylllylae V.V. et al. Neurology 43:2652-2658(1993) · UniProtKB (1) |