Works matching AU Hinttala, Reetta


Results: 28
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    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
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    Secondary metabolic effects in complex I deficiency.

    Published in:
    Annals of Neurology, 2005, v. 58, n. 4, p. 544
    By:
    • Nayla Esteitie;
    • Reetta Hinttala;
    • Rolf Wibom;
    • Helene Nilsson;
    • Nicole Hance;
    • Karin Naess;
    • Kristina Teär‐Fahnehjelm;
    • Ulrika Von Döbeln;
    • Kari Majamaa;
    • Nils‐Göran Larsson
    Publication type:
    Article
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    Nhlrc2 is crucial during mouse gastrulation.

    Published in:
    Genesis: The Journal of Genetics & Development, 2022, v. 60, n. 3, p. 1, doi. 10.1002/dvg.23470
    By:
    • Hiltunen, Anniina E.;
    • Vuolteenaho, Reetta;
    • Ronkainen, Veli‐Pekka;
    • Miinalainen, Ilkka;
    • Uusimaa, Johanna;
    • Lehtonen, Siri;
    • Hinttala, Reetta
    Publication type:
    Article
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    Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

    Published in:
    Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327
    By:
    • Tallgren, Antti;
    • Kager, Leo;
    • O'Grady, Gina;
    • Tuominen, Hannu;
    • Körkkö, Jarmo;
    • Kuismin, Outi;
    • Feucht, Martha;
    • Wilson, Callum;
    • Behunova, Jana;
    • England, Eleina;
    • Kurki, Mitja I.;
    • Palotie, Aarno;
    • Hallman, Mikko;
    • Kaarteenaho, Riitta;
    • Laccone, Franco;
    • Boztug, Kaan;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
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    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
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    Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
    By:
    • Hautakangas, Milla‐Riikka;
    • Widgren, Paula;
    • Korpelainen, Paavo;
    • Kangas, Salla M.;
    • Komulainen, Tuomas;
    • Vieira, Päivi;
    • Rahikkala, Elisa;
    • Pylkäs, Katri;
    • Tuominen, Hannu;
    • Kokkonen, Hannaleena;
    • Miinalainen, Ilkka;
    • Nadaf, Javad;
    • Majewski, Jacek;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
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    Analysis of human brain tissue derived from DBS surgery.

    Published in:
    Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00297-y
    By:
    • Kangas, Salla M.;
    • Teppo, Jaakko;
    • Lahtinen, Maija J.;
    • Suoranta, Anu;
    • Ghimire, Bishwa;
    • Mattila, Pirkko;
    • Uusimaa, Johanna;
    • Varjosalo, Markku;
    • Katisko, Jani;
    • Hinttala, Reetta
    Publication type:
    Article
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    Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.

    Published in:
    Cells (2073-4409), 2021, v. 10, n. 11, p. 3158, doi. 10.3390/cells10113158
    By:
    • Zárybnický, Tomáš;
    • Heikkinen, Anne;
    • Kangas, Salla M.;
    • Karikoski, Marika;
    • Martínez-Nieto, Guillermo Antonio;
    • Salo, Miia H.;
    • Uusimaa, Johanna;
    • Vuolteenaho, Reetta;
    • Hinttala, Reetta;
    • Sipilä, Petra;
    • Kuure, Satu
    Publication type:
    Article
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    INFRAFRONTIER quality principles in systemic phenotyping.

    Published in:
    Mammalian Genome, 2022, v. 33, n. 1, p. 120, doi. 10.1007/s00335-021-09892-2
    By:
    • Ehlich, Hilke;
    • Cater, Heather L.;
    • Flenniken, Ann M.;
    • Goncalves Da Cruz, Isabelle;
    • Mura, Anne-Marie;
    • Ntafis, Vasileios;
    • Raess, Michael;
    • Selloum, Mohammed;
    • Stoeger, Claudia;
    • Suchanova, Sarka;
    • Vuolteenaho, Reetta;
    • Brown, Steve D. M.;
    • Hérault, Yann;
    • Hinttala, Reetta;
    • Hrabě de Angelis, Martin;
    • Kollias, George;
    • Kontoyiannis, Dimitris L.;
    • Malissen, Bernard;
    • McKerlie, Colin;
    • Sedláček, Radislav
    Publication type:
    Article
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