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Year Number of Results
2013 2
2014 2
2015 1
2016 1
2017 5
2018 1
2019 4
2020 2
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2022 4
2023 3
2024 0

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26 results

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Page 1
Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
Ylikotila P, Sipilä J, Alapirtti T, Ahmasalo R, Koshimizu E, Miyatake S, Hurme-Niiranen A, Siitonen A, Doi H, Tanaka F, Matsumoto N, Majamaa K, Kytövuori L. Ylikotila P, et al. Among authors: kytovuori l. Eur J Neurol. 2023 May;30(5):1256-1261. doi: 10.1111/ene.15717. Epub 2023 Feb 12. Eur J Neurol. 2023. PMID: 36705320
NDUFA1 p.Gly32Arg variant in early-onset dementia.
Huttula S, Väyrynen H, Helisalmi S, Kytövuori L, Luukkainen L, Hiltunen M, Remes AM, Krüger J. Huttula S, et al. Among authors: kytovuori l. Neurobiol Aging. 2022 Jun;114:113-116. doi: 10.1016/j.neurobiolaging.2021.09.026. Epub 2022 Jan 21. Neurobiol Aging. 2022. PMID: 35131137 Free article.
Molecular epidemiology of hereditary ataxia in Finland.
Lipponen J, Helisalmi S, Raivo J, Siitonen A, Doi H, Rusanen H, Lehtilahti M, Ryytty M, Laakso M, Tanaka F, Majamaa K, Kytövuori L. Lipponen J, et al. Among authors: kytovuori l. BMC Neurol. 2021 Oct 2;21(1):382. doi: 10.1186/s12883-021-02409-z. BMC Neurol. 2021. PMID: 34600502 Free PMC article.
WFS1 mutations in hearing-impaired children.
Häkli S, Kytövuori L, Luotonen M, Sorri M, Majamaa K. Häkli S, et al. Among authors: kytovuori l. 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
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. 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.
Cognitive impairment is not uncommon in patients with biallelic RFC1 AAGGG repeat expansion, but the expansion is rare in patients with cognitive disease.
Korpioja A, Krüger J, Hurme-Niiranen A, Solje E, Katisko K, Lipponen J, Lehtilahti M, Remes AM, Majamaa K, Kytövuori L. Korpioja A, et al. Among authors: kytovuori l. Parkinsonism Relat Disord. 2022 Oct;103:98-101. doi: 10.1016/j.parkreldis.2022.08.034. Epub 2022 Sep 6. Parkinsonism Relat Disord. 2022. PMID: 36088850 Free article.
26 results