Works by Komulainen‐Ebrahim, Jonna

Results: 7
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    3

    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.

    Published in:
    Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2125, doi. 10.1111/epi.14568
    By:
    • Hynynen, Johanna;
    • Pokka, Tytti;
    • Komulainen‐Ebrahim, Jonna;
    • Myllynen, Päivi;
    • Kärppä, Mikko;
    • Pylvänen, Laura;
    • Kälviäinen, Reetta;
    • Sokka, Arja;
    • Jyrkilä, Aino;
    • Lähdetie, Jaana;
    • Haataja, Leena;
    • Mäkitalo, Anna;
    • Ylikotila, Pauli;
    • Eriksson, Kai;
    • Haapala, Piia;
    • Ansakorpi, Hanna;
    • Hinttala, Reetta;
    • Vieira, Päivi;
    • Majamaa, Kari;
    • Rantala, Heikki
    Publication type:
    Article
    4

    Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-08262-y
    By:
    • Kurki, Mitja I.;
    • Saarentaus, Elmo;
    • Pietiläinen, Olli;
    • Gormley, Padhraig;
    • Lal, Dennis;
    • Kerminen, Sini;
    • Torniainen-Holm, Minna;
    • Hämäläinen, Eija;
    • Rahikkala, Elisa;
    • Keski-Filppula, Riikka;
    • Rauhala, Merja;
    • Korpi-Heikkilä, Satu;
    • Komulainen-Ebrahim, Jonna;
    • Helander, Heli;
    • Vieira, Päivi;
    • Männikkö, Minna;
    • Peltonen, Markku;
    • Havulinna, Aki S.;
    • Salomaa, Veikko;
    • Pirinen, Matti
    Publication type:
    Article
    5

    Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

    Published in:
    Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
    By:
    • Komulainen‐Ebrahim, Jonna;
    • Kangas, Salla M.;
    • López‐Martín, Estrella;
    • Feyma, Timothy;
    • Scaglia, Fernando;
    • Martínez‐Delgado, Beatriz;
    • Kuismin, Outi;
    • Suo‐Palosaari, Maria;
    • Carr, Lucinda;
    • Hinttala, Reetta;
    • Kurian, Manju A.;
    • Uusimaa, Johanna
    Publication type:
    Article
    6

    Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.

    Published in:
    Epilepsia Open, 2024, v. 9, n. 4, p. 1582, doi. 10.1002/epi4.12968
    By:
    • De Giorgis, Valentina;
    • Pasca, Ludovica;
    • Aznar‐Lain, Gemma;
    • Bibic, Irena;
    • Bibic, Vedrana;
    • Darra, Francesca;
    • Dianin, Alice;
    • Dressler, Anastasia;
    • Jonsson, Henna;
    • Komulainen‐Ebrahim, Jonna;
    • Kverneland, Magnhild;
    • Molteberg, Ellen;
    • Ragona, Francesca;
    • de Saint‐Martin, Anne;
    • Varesio, Costanza;
    • Cross, J. Helen;
    • Baumgartner, Tobias;
    • Bjellvi, Johan;
    • Brunklaus, Andreas;
    • Buttle, Janette
    Publication type:
    Article
    7

    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.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203
    By:
    • Kraatari‐Tiri, Minna;
    • Soikkonen, Leila;
    • Myllykoski, Matti;
    • Jamshidi, Yalda;
    • Karimiani, Ehsan G.;
    • Komulainen‐Ebrahim, Jonna;
    • Kallankari, Hanna;
    • Mignot, Cyril;
    • Depienne, Christel;
    • Keren, Boris;
    • Nougues, Marie‐Christine;
    • Alsahlawi, Zahra;
    • Romito, Antonio;
    • Martini, Javier;
    • Toosi, Mehran B.;
    • Carroll, Christopher J.;
    • Tripolszki, Kornelia;
    • Bauer, Peter;
    • Uusimaa, Johanna;
    • Bertoli‐Avella, Aida M.
    Publication type:
    Article