Works by Kurki, Mitja I.

Results: 13
    1
    2

    Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

    Published in:
    Epilepsia (Series 4), 2015, v. 56, n. 9, p. e129, doi. 10.1111/epi.13076
    By:
    • Lal, Dennis;
    • Pernhorst, Katharina;
    • Klein, Karl Martin;
    • Reif, Philipp;
    • Tozzi, Rossana;
    • Toliat, Mohammad R.;
    • Winterer, Georg;
    • Neubauer, Bernd;
    • Nürnberg, Peter;
    • Rosenow, Felix;
    • Becker, Felicitas;
    • Lerche, Holger;
    • Kunz, Wolfram S.;
    • Kurki, Mitja I.;
    • Hoffmann, Per;
    • Becker, Albert J.;
    • Perucca, Emilio;
    • Zara, Federico;
    • Sander, Thomas;
    • Weber, Yvonne G.
    Publication type:
    Article
    3

    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
    4

    Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case–control comparison with family members.

    Published in:
    Fluids & Barriers of the CNS, 2020, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12987-020-00217-0
    By:
    • Räsänen, Joel;
    • Huovinen, Joel;
    • Korhonen, Ville E.;
    • Junkkari, Antti;
    • Kastinen, Sami;
    • Komulainen, Simo;
    • Oinas, Minna;
    • Avellan, Cecilia;
    • Frantzen, Janek;
    • Rinne, Jaakko;
    • Ronkainen, Antti;
    • Kauppinen, Mikko;
    • Lönnrot, Kimmo;
    • Perola, Markus;
    • Koivisto, Anne M.;
    • Remes, Anne M.;
    • Soininen, Hilkka;
    • Hiltunen, Mikko;
    • Helisalmi, Seppo;
    • Kurki, Mitja I.
    Publication type:
    Article
    5
    6

    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
    7

    TAFFEL: Independent Enrichment Analysis of gene sets.

    Published in:
    BMC Bioinformatics, 2011, v. 12, n. 1, p. 171, doi. 10.1186/1471-2105-12-171
    By:
    • Kurki, Mitja I.;
    • Paananen, Jussi;
    • Storvik, Markus;
    • Ylä-Herttuala, Seppo;
    • Jääskeläinen, Juha E.;
    • von und zu Fraunberg, Mikael;
    • Garry Wong;
    • Pehkonen, Petri
    Publication type:
    Article
    8

    Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

    Published in:
    Nature Communications, 2016, v. 7, n. 9, p. 12869, doi. 10.1038/ncomms12869
    By:
    • Rivas, Manuel A.;
    • Graham, Daniel;
    • Sulem, Patrick;
    • Stevens, Christine;
    • Desch, A. Nicole;
    • Goyette, Philippe;
    • Gudbjartsson, Daniel;
    • Jonsdottir, Ingileif;
    • Thorsteinsdottir, Unnur;
    • Degenhardt, Frauke;
    • Mucha, Sören;
    • Kurki, Mitja I.;
    • Li, Dalin;
    • D'Amato, Mauro;
    • Annese, Vito;
    • Vermeire, Severine;
    • Weersma, Rinse K.;
    • Halfvarson, Jonas;
    • Paavola-Sakki, Paulina;
    • Lappalainen, Maarit
    Publication type:
    Article
    9

    A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

    Published in:
    Nature Communications, 2016, v. 7, n. 8, p. 12342, doi. 10.1038/ncomms12342
    By:
    • Rivas, Manuel A.;
    • Graham, Daniel;
    • Sulem, Patrick;
    • Stevens, Christine;
    • Desch, A. Nicole;
    • Goyette, Philippe;
    • Gudbjartsson, Daniel;
    • Jonsdottir, Ingileif;
    • Thorsteinsdottir, Unnur;
    • Degenhardt, Frauke;
    • Mucha, Sören;
    • Kurki, Mitja I.;
    • Li, Dalin;
    • D'Amato, Mauro;
    • Annese, Vito;
    • Vermeire, Severine;
    • Weersma, Rinse K.;
    • Halfvarson, Jonas;
    • Paavola-Sakki, Paulina;
    • Lappalainen, Maarit
    Publication type:
    Article
    10

    High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms.

    Published in:
    PLoS Genetics, 2014, v. 10, n. 1, p. 1, doi. 10.1371/journal.pgen.1004134
    By:
    • Kurki, Mitja I.;
    • Gaál, Emília Ilona;
    • Kettunen, Johannes;
    • Lappalainen, Tuuli;
    • Menelaou, Androniki;
    • Anttila, Verneri;
    • van 't Hof, Femke N. G.;
    • von und zu Fraunberg, Mikael;
    • Helisalmi, Seppo;
    • Hiltunen, Mikko;
    • Lehto, Hanna;
    • Laakso, Aki;
    • Kivisaari, Riku;
    • Koivisto, Timo;
    • Ronkainen, Antti;
    • Rinne, Jaakko;
    • Kiemeney, Lambertus A. L.;
    • Vermeulen, Sita H.;
    • Kaunisto, Mari A.;
    • Eriksson, Johan G.
    Publication type:
    Article
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