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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: hurme niiranen a. 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: hurme niiranen a. 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.
DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
Harju T, Hurme-Niiranen A, Suo-Palosaari M, Nygaard Nielsen S, Hinttala R, Schmiegelow K, Uusimaa J, Harila A, Niinimäki R. Harju T, et al. Among authors: hurme niiranen a. Pharmacogenomics J. 2023 Sep;23(5):105-111. doi: 10.1038/s41397-023-00303-0. Epub 2023 May 3. Pharmacogenomics J. 2023. PMID: 37138020 Free PMC article.
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: hurme niiranen a. Eur J Neurol. 2023 May;30(5):1256-1261. doi: 10.1111/ene.15717. Epub 2023 Feb 12. Eur J Neurol. 2023. PMID: 36705320