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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME; DDD Study; Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE, Komatsu M. Muona M, et al. Among authors: poyhonen m. Am J Hum Genet. 2016 Sep 1;99(3):683-694. doi: 10.1016/j.ajhg.2016.06.020. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545674 Free PMC article.
Loss of SUFU function in familial multiple meningioma.
Aavikko M, Li SP, Saarinen S, Alhopuro P, Kaasinen E, Morgunova E, Li Y, Vesanen K, Smith MJ, Evans DG, Pöyhönen M, Kiuru A, Auvinen A, Aaltonen LA, Taipale J, Vahteristo P. Aavikko M, et al. Among authors: poyhonen m. Am J Hum Genet. 2012 Sep 7;91(3):520-6. doi: 10.1016/j.ajhg.2012.07.015. Am J Hum Genet. 2012. PMID: 22958902 Free PMC article.
SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population.
Pasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, Paetau A, Suomalainen A, Myllykangas L. Pasanen P, et al. Among authors: poyhonen m. Neurobiol Aging. 2017 Feb;50:168.e5-168.e8. doi: 10.1016/j.neurobiolaging.2016.10.014. Epub 2016 Oct 19. Neurobiol Aging. 2017. PMID: 27838048
The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients.
Luukkonen TM, Kiiski V, Ahola M, Mandelin J, Virtanen H, Pöyhönen M, Kivirikko S, Surakka I, Reitamo S, Palotie A, Heliövaara M, Jakkula E, Remitz A. Luukkonen TM, et al. Among authors: poyhonen m. Acta Derm Venereol. 2017 Apr 6;97(4):456-463. doi: 10.2340/00015555-2578. Acta Derm Venereol. 2017. PMID: 27840886 Free article.
Genetics of dementia in a Finnish cohort.
Pasanen P, Myllykangas L, Pöyhönen M, Kiviharju A, Siitonen M, Hardy J, Bras J, Paetau A, Tienari PJ, Guerreiro R, Verkkoniemi-Ahola A. Pasanen P, et al. Among authors: poyhonen m. Eur J Hum Genet. 2018 Jun;26(6):827-837. doi: 10.1038/s41431-018-0117-3. Epub 2018 Feb 23. Eur J Hum Genet. 2018. PMID: 29476165 Free PMC article.
Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation.
Kuuluvainen L, Kaivola K, Mönkäre S, Laaksovirta H, Jokela M, Udd B, Valori M, Pasanen P, Paetau A, Traynor BJ, Stone DJ, Schleutker J, Pöyhönen M, Tienari PJ, Myllykangas L. Kuuluvainen L, et al. Among authors: poyhonen m. Neurol Genet. 2019 Apr 23;5(3):e335. doi: 10.1212/NXG.0000000000000335. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31086828 Free PMC article.
107 results