Majamaa K - Search Results

1

Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.

Kytövuori L, Sipilä J, Doi H, Hurme-Niiranen A, Siitonen A, Koshimizu E, Miyatake S, Matsumoto N, Tanaka F, Majamaa K. Kytövuori L, et al. Among authors: majamaa k. NPJ Parkinsons Dis. 2022 Jan 10;8(1):6. doi: 10.1038/s41531-021-00275-7. NPJ Parkinsons Dis. 2022. PMID: 35013364 Free PMC article.

2

Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.

Martikainen MH, Kytövuori L, Majamaa K. Martikainen MH, et al. Among authors: majamaa k. Mitochondrion. 2013 Mar;13(2):83-6. doi: 10.1016/j.mito.2013.01.012. Epub 2013 Feb 7. Mitochondrion. 2013. PMID: 23395828

3

Mutations in EIF4G1 are not a common cause of Parkinson's disease.

Siitonen A, Majounie E, Federoff M, Ding J, Majamaa K, Singleton AB. Siitonen A, et al. Among authors: majamaa k. Eur J Neurol. 2013 Apr;20(4):e59. doi: 10.1111/ene.12051. Eur J Neurol. 2013. PMID: 23490116 No abstract available.

4

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.

Kytövuori L, Seppänen A, Martikainen MH, Moilanen JS, Kamppari S, Särkioja T, Remes AM, Räsänen P, Rönnemaa T, Majamaa K. Kytövuori L, et al. Among authors: majamaa k. J Hum Genet. 2013 Aug;58(8):495-500. doi: 10.1038/jhg.2013.29. Epub 2013 Apr 18. J Hum Genet. 2013. PMID: 23595122

5

Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease.

Ylönen S, Ylikotila P, Siitonen A, Finnilä S, Autere J, Majamaa K. Ylönen S, et al. Among authors: majamaa k. J Neurol. 2013 Dec;260(12):3144-9. doi: 10.1007/s00415-013-7132-7. J Neurol. 2013. PMID: 24122062

6

Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.

Martikainen MH, Kytövuori L, Majamaa K. Martikainen MH, et al. Among authors: majamaa k. Neuromuscul Disord. 2014 Apr;24(4):360-4. doi: 10.1016/j.nmd.2014.01.007. Epub 2014 Jan 27. Neuromuscul Disord. 2014. PMID: 24530046

7

WFS1 mutations in hearing-impaired children.

Häkli S, Kytövuori L, Luotonen M, Sorri M, Majamaa K. Häkli S, et al. Among authors: majamaa k. Int J Audiol. 2014 Jul;53(7):446-51. doi: 10.3109/14992027.2014.887230. Epub 2014 Mar 10. Int J Audiol. 2014. PMID: 24909696

8

Epidemiology of Huntington's disease in Finland.

Sipilä JO, Hietala M, Siitonen A, Päivärinta M, Majamaa K. Sipilä JO, et al. Among authors: majamaa k. Parkinsonism Relat Disord. 2015 Jan;21(1):46-9. doi: 10.1016/j.parkreldis.2014.10.025. Epub 2014 Nov 3. Parkinsonism Relat Disord. 2015. PMID: 25466405 Free article.

9

Effects of pathogenic mutations in membrane subunits of mitochondrial Complex I on redox activity and proton translocation studied by modeling in Escherichia coli.

Pätsi J, Kervinen M, Kytövuori L, Majamaa K, Hassinen IE. Pätsi J, et al. Among authors: majamaa k. Mitochondrion. 2015 May;22:23-30. doi: 10.1016/j.mito.2015.02.007. Epub 2015 Mar 5. Mitochondrion. 2015. PMID: 25747201

10

Epidemiology of stroke in Finnish patients with Huntington's disease.

Sipilä JO, Majamaa K. Sipilä JO, et al. Among authors: majamaa k. Acta Neurol Scand. 2016 Jul;134(1):61-6. doi: 10.1111/ane.12512. Epub 2015 Sep 25. Acta Neurol Scand. 2016. PMID: 26403692

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