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Year Number of Results
1997 1
2000 1
2003 3
2004 1
2005 2
2006 4
2007 3
2008 2
2009 3
2010 5
2011 4
2012 3
2013 4
2014 5
2015 4
2016 5
2017 13
2018 10
2019 4
2020 6
2021 7
2022 8
2023 5
2024 10
2025 6

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100 results

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Page 1
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA. Pérez-Dueñas B, et al. Among authors: uusimaa j. Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25. Mov Disord. 2022. PMID: 36054588 Free PMC article.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: uusimaa j. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Kang Y, Hepojoki J, Maldonado RS, Mito T, Terzioglu M, Manninen T, Kant R, Singh S, Othman A, Verma R, Uusimaa J, Wartiovaara K, Kareinen L, Zamboni N, Nyman TA, Paetau A, Kipar A, Vapalahti O, Suomalainen A. Kang Y, et al. Among authors: uusimaa j. Nature. 2024 Apr;628(8009):844-853. doi: 10.1038/s41586-024-07260-z. Epub 2024 Apr 3. Nature. 2024. PMID: 38570685 Free PMC article.
Status epilepticus in POLG disease: a large multinational study.
Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA. Hikmat O, et al. Among authors: uusimaa j. J Neurol. 2024 Aug;271(8):5156-5164. doi: 10.1007/s00415-024-12463-5. Epub 2024 Jun 1. J Neurol. 2024. PMID: 38822839 Free PMC article.
Nhlrc2 is crucial during mouse gastrulation.
Hiltunen AE, Vuolteenaho R, Ronkainen VP, Miinalainen I, Uusimaa J, Lehtonen S, Hinttala R. Hiltunen AE, et al. Among authors: uusimaa j. Genesis. 2022 Mar;60(3):e23470. doi: 10.1002/dvg.23470. Epub 2022 Mar 8. Genesis. 2022. PMID: 35258166 Free PMC article.
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K, Huhtaniska S, Ellonen J, Pokka T, Kangas SM, Moilanen J, Helander H, Kallankari H, Komulainen-Ebrahim J, Vieira P, Rahikkala E, Guerrini R, Honkila M, Ruuska TS, Hinttala R, Suo-Palosaari M, Tolonen JP, Uusimaa J. Granath K, et al. Among authors: uusimaa j. Mov Disord. 2025 May 6. doi: 10.1002/mds.30210. Online ahead of print. Mov Disord. 2025. PMID: 40326640
Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.
Zárybnický T, Heikkinen A, Kangas SM, Karikoski M, Martínez-Nieto GA, Salo MH, Uusimaa J, Vuolteenaho R, Hinttala R, Sipilä P, Kuure S. Zárybnický T, et al. Among authors: uusimaa j. Cells. 2021 Nov 13;10(11):3158. doi: 10.3390/cells10113158. Cells. 2021. PMID: 34831381 Free PMC article. Review.
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. Uusimaa J, et al. Dis Model Mech. 2022 Oct 1;15(10):dmm049490. doi: 10.1242/dmm.049490. Epub 2022 Oct 26. Dis Model Mech. 2022. PMID: 36285626 Free PMC article. Review.
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andréasson S, Krüger J, Nilsson C, Kjellström U, Rahikkala E, Turkiewicz D, Karlberg M, Nilsson L, Cammenga J, Tedgård U, Davidsson J, Uusimaa J, Puschmann A. Gorcenco S, et al. Among authors: uusimaa j. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.
100 results