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Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Komulainen-Ebrahim J, Kangas SM, López-Martín E, Feyma T, Scaglia F, Martínez-Delgado B, Kuismin O, Suo-Palosaari M, Carr L, Hinttala R, Kurian MA, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: hinttala r. Mov Disord Clin Pract. 2024 May 2. doi: 10.1002/mdc3.14051. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 38698576
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Järvelä V, Hamze M, Komulainen-Ebrahim J, Rahikkala E, Piispala J, Kallio M, Kangas SM, Nickl T, Huttula M, Hinttala R, Uusimaa J, Medina I, Immonen EV. Järvelä V, et al. Among authors: hinttala r. Front Mol Neurosci. 2024 Apr 10;17:1372662. doi: 10.3389/fnmol.2024.1372662. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38660387 Free PMC article.
ciRS-7 and miR-7 regulate ischemia-induced neuronal death via glutamatergic signaling.
Scoyni F, Sitnikova V, Giudice L, Korhonen P, Trevisan DM, Hernandez de Sande A, Gomez-Budia M, Giniatullina R, Ugidos IF, Dhungana H, Pistono C, Korvenlaita N, Välimäki NN, Kangas SM, Hiltunen AE, Gribchenko E, Kaikkonen-Määttä MU, Koistinaho J, Ylä-Herttuala S, Hinttala R, Venø MT, Su J, Stoffel M, Schaefer A, Rajewsky N, Kjems J, LaPierre MP, Piwecka M, Jolkkonen J, Giniatullin R, Hansen TB, Malm T. Scoyni F, et al. Among authors: hinttala r. Cell Rep. 2024 Mar 26;43(3):113862. doi: 10.1016/j.celrep.2024.113862. Epub 2024 Mar 5. Cell Rep. 2024. PMID: 38446664 Free article.
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK, Pelttari LM, Kiiski JI, Khan S, Nurmikolu M, Suvanto M, Aho N, Tasmuth T, Kalso E, Schleutker J, Kallioniemi A, Heikkilä P; FinnGen; Aittomäki K, Blomqvist C, Nevanlinna H. Nurmi AK, et al. Sci Rep. 2023 Nov 30;13(1):21127. doi: 10.1038/s41598-023-47441-w. Sci Rep. 2023. PMID: 38036545 Free PMC article.
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR, Widgren P, Korpelainen P, Kangas SM, Komulainen T, Vieira P, Rahikkala E, Pylkäs K, Tuominen H, Kokkonen H, Miinalainen I, Nadaf J, Majewski J, Hinttala R, Uusimaa J. Hautakangas MR, et al. Among authors: hinttala r. Clin Genet. 2023 Dec;104(6):686-693. doi: 10.1111/cge.14416. Epub 2023 Aug 13. Clin Genet. 2023. PMID: 37574199
A FinnGen pilot clinical recall study for Alzheimer's disease.
Julkunen V, Schwarz C, Kalapudas J, Hallikainen M, Piironen AK, Mannermaa A, Kujala H, Laitinen T, Kosma VM, Paajanen TI, Kälviäinen R, Hiltunen M, Herukka SK, Kärkkäinen S, Kokkola T, Urjansson M; FinnGen; Perola M, Palotie A, Vuoksimaa E, Runz H. Julkunen V, et al. Sci Rep. 2023 Aug 3;13(1):12641. doi: 10.1038/s41598-023-39835-7. Sci Rep. 2023. PMID: 37537264 Free PMC article.
High NHLRC2 expression is associated with shortened survival in lung adenocarcinoma.
Kreus MA, Lehtonen ST, Mäkinen JM, Lappi-Blanco HE, Laitakari KEM, Johnson SA, Hinttala RML, Kaarteenaho RL. Kreus MA, et al. Among authors: hinttala rml. Transl Lung Cancer Res. 2023 Jun 30;12(6):1221-1235. doi: 10.21037/tlcr-22-815. Epub 2023 Jun 9. Transl Lung Cancer Res. 2023. PMID: 37425408 Free PMC article.
79 results