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Page 1
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Hynynen J, Pokka T, Komulainen-Ebrahim J, Myllynen P, Kärppä M, Pylvänen L, Kälviäinen R, Sokka A, Jyrkilä A, Lähdetie J, Haataja L, Mäkitalo A, Ylikotila P, Eriksson K, Haapala P, Ansakorpi H, Hinttala R, Vieira P, Majamaa K, Rantala H, Uusimaa J. Hynynen J, et al. Epilepsia. 2018 Nov;59(11):2125-2136. doi: 10.1111/epi.14568. Epub 2018 Sep 26. Epilepsia. 2018. PMID: 30255931
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. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Kraatari-Tiri M, Soikkonen L, Myllykoski M, Jamshidi Y, Karimiani EG, Komulainen-Ebrahim J, Kallankari H, Mignot C, Depienne C, Keren B, Nougues MC, Alsahlawi Z, Romito A, Martini J, Toosi MB, Carroll CJ, Tripolszki K, Bauer P, Uusimaa J, Bertoli-Avella AM, Koivunen P, Rahikkala E. Kraatari-Tiri M, et al. Among authors: komulainen ebrahim j. Clin Genet. 2022 Nov;102(5):444-450. doi: 10.1111/cge.14203. Epub 2022 Aug 19. Clin Genet. 2022. PMID: 35908151 Free PMC article. Review.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Kurki MI, Saarentaus E, Pietiläinen O, Gormley P, Lal D, Kerminen S, Torniainen-Holm M, Hämäläinen E, Rahikkala E, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, Männikkö M, Peltonen M, Havulinna AS, Salomaa V, Pirinen M, Suvisaari J, Moilanen JS, Körkkö J, Kuismin O, Daly MJ, Palotie A. Kurki MI, et al. Nat Commun. 2019 Jan 24;10(1):410. doi: 10.1038/s41467-018-08262-y. Nat Commun. 2019. PMID: 30679432 Free PMC article.
Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care Professionals.
Keikhosrokiani P, Annunen J, Komulainen-Ebrahim J, Kortelainen J, Kallio M, Vieira P, Isomursu M, Uusimaa J. Keikhosrokiani P, et al. Among authors: komulainen ebrahim j. JMIR Hum Factors. 2025 May 30;12:e59558. doi: 10.2196/59558. JMIR Hum Factors. 2025. PMID: 40446306 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: komulainen ebrahim j. Mov Disord. 2025 May 6. doi: 10.1002/mds.30210. Online ahead of print. Mov Disord. 2025. PMID: 40326640
Epilepsy care pathway: The Finnish model.
Kälviäinen R, Hadj-Allal Z, Kirjavainen J, Roivainen R, Linnankivi T, Peltola J, Eriksson K, Lamusuo S, Lähdesmäki T, Annunen J, Vieira P, Tarkiainen V, Jutila L, Saarela A, Kämppi L, Metsähonkala L, Gaily E, Lähde N, Antinmaa J, Erme S, Pirttisalo AL, Virolainen J, Ylijoki M, Kela L, Komulainen-Ebrahim J, Sorjonen P; Finnish Severe Epilepsy Coordination Group. Kälviäinen R, et al. Among authors: komulainen ebrahim j. Epilepsia Open. 2025 Feb;10(1):177-185. doi: 10.1002/epi4.13093. Epub 2024 Nov 9. Epilepsia Open. 2025. PMID: 39520410 Free PMC article.
15 results