Found: 19

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  • Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

    Published in:
    2022
    By:
    • Knoop, Marieke M van der;
    • Maroofian, Reza;
    • Fukata, Yuko;
    • Ierland, Yvette van;
    • Karimiani, Ehsan G;
    • Lehesjoki, Anna Elina;
    • Muona, Mikko;
    • Paetau, Anders;
    • Miyazaki, Yuri;
    • Hirano, Yoko;
    • Selim, Laila;
    • França, Marina de;
    • Fock, Rodrigo Ambrosio;
    • Beetz, Christian;
    • Ruivenkamp, Claudia A L;
    • Eaton, Alison J;
    • Morneau-Jacob, Francois D;
    • Sagi-Dain, Lena;
    • Shemer-Meiri, Lilach;
    • Peleg, Amir
    Publication type:
    journal article

  • ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

    Published in:
    Brain: A Journal of Neurology, 2017, v. 140, n. 5, p. 1267, doi. 10.1093/brain/awx040
    By:
    • Anttonen, Anna-Kaisa;
    • Laari, Anni;
    • Kousi, Maria;
    • Yang, Yawei J.;
    • Jääskeläinen, Tiina;
    • Somer, Mirja;
    • Siintola, Eija;
    • Jakkula, Eveliina;
    • Muona, Mikko;
    • Tegelberg, Saara;
    • nnqvist, Tuula Lö;
    • Pihko, Helena;
    • Valanne, Leena;
    • Paetau, Anders;
    • Lun, Melody P.;
    • Hästbacka, Johanna;
    • Kopra, Outi;
    • Joensuu, Tarja;
    • Katsanis, Nicholas;
    • Lehtinen, Maria K.
    Publication type:
    Article

  • ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

    Published in:
    2017
    By:
    • Anttonen, Anna-Kaisa;
    • Laari, Anni;
    • Kousi, Maria;
    • Yang, Yawei J;
    • Jääskeläinen, Tiina;
    • Somer, Mirja;
    • Siintola, Eija;
    • Jakkula, Eveliina;
    • Muona, Mikko;
    • Tegelberg, Saara;
    • Lönnqvist, Tuula;
    • Pihko, Helena;
    • Valanne, Leena;
    • Paetau, Anders;
    • Lun, Melody P;
    • Hästbacka, Johanna;
    • Kopra, Outi;
    • Joensuu, Tarja;
    • Katsanis, Nicholas;
    • Lehtinen, Maria K
    Publication type:
    journal article

  • Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings.

    Published in:
    Epilepsia (Series 4), 2013, v. 54, n. 9, p. 1577, doi. 10.1111/epi.12256
    By:
    • Gaily, Eija;
    • Anttonen, Anna‐Kaisa;
    • Valanne, Leena;
    • Liukkonen, Elina;
    • Träskelin, Ann‐Liz;
    • Polvi, Anne;
    • Lommi, Markus;
    • Muona, Mikko;
    • Eriksson, Kai;
    • Lehesjoki, Anna‐Elina
    Publication type:
    Article

  • Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case.

    Published in:
    Turkish Journal of Neurology / Turk Noroloji Dergisi, 2016, v. 22, n. 2, p. 84, doi. 10.4274/tnd.32650
    By:
    • Vanlı Yavuz, Ebru Nur;
    • Altıokka, Güneş;
    • Matur, Zeliha;
    • Muona, Mikko;
    • Bebek, Nerses;
    • Gürses, Candan;
    • Lehesjoki, Anna Elina;
    • Gökyiğit, Ayşen;
    • Baykan, Betül
    Publication type:
    Article

  • A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

    Published in:
    Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
    By:
    • Muona, Mikko;
    • Tinuper, Paolo;
    • Licchetta, Laura;
    • Scheffer, Ingrid E;
    • Criscuolo, Chiara;
    • Filla, Alessandro;
    • Ferlazzo, Edoardo;
    • Ahmad, Jamil;
    • Ahmad, Adeel;
    • Baykan, Betul;
    • Said, Edith;
    • Topcu, Meral;
    • King, Mary D;
    • Berkovic, Samuel F;
    • Oliver, Karen L;
    • Hildebrand, Michael S;
    • Ozkara, Cigdem;
    • Andrade, Danielle M;
    • Engelsen, Bernt A;
    • Crespel, Arielle
    Publication type:
    Article

  • Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

    Published in:
    2021
    By:
    • Hathaway, Julie;
    • Heliö, Krista;
    • Saarinen, Inka;
    • Tallila, Jonna;
    • Seppälä, Eija H;
    • Tuupanen, Sari;
    • Turpeinen, Hannu;
    • Kangas-Kontio, Tiia;
    • Schleit, Jennifer;
    • Tommiska, Johanna;
    • Kytölä, Ville;
    • Valori, Miko;
    • Muona, Mikko;
    • Sistonen, Johanna;
    • Gentile, Massimiliano;
    • Salmenperä, Pertteli;
    • Myllykangas, Samuel;
    • Paananen, Jussi;
    • Alastalo, Tero-Pekka;
    • Heliö, Tiina
    Publication type:
    journal article

  • Allele-specific regulation of DISC1 expression by miR-135b-5p.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 6, p. 840, doi. 10.1038/ejhg.2013.246
    By:
    • Rossi, Mari;
    • Kilpinen, Helena;
    • Muona, Mikko;
    • Surakka, Ida;
    • Ingle, Catherine;
    • Lahtinen, Jenni;
    • Hennah, William;
    • Ripatti, Samuli;
    • Hovatta, Iiris
    Publication type:
    Article

  • Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

    Published in:
    PLoS ONE, 2021, v. 16, n. 2, p. 1, doi. 10.1371/journal.pone.0245681
    By:
    • Koskenvuo, Juha W.;
    • Saarinen, Inka;
    • Ahonen, Saija;
    • Tommiska, Johanna;
    • Weckström, Sini;
    • Seppälä, Eija H.;
    • Tuupanen, Sari;
    • Kangas-Kontio, Tiia;
    • Schleit, Jennifer;
    • Heliö, Krista;
    • Hathaway, Julie;
    • Gummesson, Anders;
    • Dahlberg, Pia;
    • Ojala, Tiina H.;
    • Vepsäläinen, Ville;
    • Kytölä, Ville;
    • Muona, Mikko;
    • Sistonen, Johanna;
    • Salmenperä, Pertteli;
    • Gentile, Massimiliano
    Publication type:
    Article

  • Habitual sleep disturbances and migraine: a Mendelian randomization study.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2370, doi. 10.1002/acn3.51228
    By:
    • Daghlas, Iyas;
    • Vgontzas, Angeliki;
    • Guo, Yanjun;
    • Chasman, Daniel I.;
    • Saxena, Richa;
    • Gormley, Padhraig;
    • Anttila, Verneri;
    • Winsvold, Bendik S.;
    • Palta, Priit;
    • Esko, Tonu;
    • Pers, Tune H.;
    • Farh, Kai‐How;
    • Cuenca‐Leon, Ester;
    • Muona, Mikko;
    • Furlotte, Nicholas A.;
    • Kurth, Tobias;
    • Ingason, Andres;
    • McMahon, George;
    • Ligthart, Lannie;
    • Terwindt, Gisela M.
    Publication type:
    Article

  • Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.

    Published in:
    Acta Dermato-Venereologica, 2019, v. 99, n. 9, p. 789, doi. 10.2340/00015555-3203
    By:
    • VAKKILAINEN, Svetlana;
    • PUHAKKA, Laura;
    • KLEMETTI, Paula;
    • HEISKANEN, Kaarina;
    • SEPPÄNEN, Mikko;
    • MUONA, Mikko;
    • POSSEME, Celine;
    • DUFFY, Darragh;
    • VÄISÄNEN, Timo;
    • ELOMAA, Outi;
    • PALOMÄKI, Maarit;
    • SAXÉN, Harri;
    • RANKI, Annamari;
    • HANNULA-JOUPPI, Katariina
    Publication type:
    Article

  • Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.

    Published in:
    Annals of Neurology, 2021, v. 89, n. 2, p. 402, doi. 10.1002/ana.25941
    By:
    • Mazzola, Laure;
    • Oliver, Karen L.;
    • Labalme, Audrey;
    • Baykan, Betül;
    • Muona, Mikko;
    • Joensuu, Tarja H.;
    • Courage, Carolina;
    • Chatron, Nicolas;
    • Borsani, Giuseppe;
    • Alix, Eudeline;
    • Ramond, Francis;
    • Touraine, Renaud;
    • Bahlo, Melanie;
    • Bebek, Nerses;
    • Berkovic, Samuel F.;
    • Lehesjoki, Anna‐Elina;
    • Lesca, Gaetan
    Publication type:
    Article

  • Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel properties.

    Published in:
    2017
    By:
    • Oliver, Karen L.;
    • Franceschetti, Silvana;
    • Milligan, Carol J.;
    • Muona, Mikko;
    • Mandelstam, Simone A.;
    • Canafoglia, Laura;
    • Boguszewska‐Chachulska, Anna M.;
    • Korczyn, Amos D.;
    • Bisulli, Francesca;
    • Bonaventura, Carlo;
    • Ragona, Francesca;
    • Michelucci, Roberto;
    • Ben‐Zeev, Bruria;
    • Straussberg, Rachel;
    • Panzica, Ferruccio;
    • Massano, João;
    • Friedman, Daniel;
    • Crespel, Arielle;
    • Engelsen, Bernt A.;
    • Andermann, Frederick
    Publication type:
    journal article

  • Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.

    Published in:
    Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab245
    By:
    • Bott, Laura C.;
    • Forouhan, Mitra;
    • Lieto, Maria;
    • Sala, Ambre J.;
    • Ellerington, Ruth;
    • Johnson, Janel O.;
    • Speciale, Alfina A.;
    • Criscuolo, Chiara;
    • Filla, Alessandro;
    • Chitayat, David;
    • Alkhunaizi, Ebba;
    • Shannon, Patrick;
    • Nemeth, Andrea H.;
    • Angelucci, Francesco;
    • Wooi Fang Lim;
    • Striano, Pasquale;
    • Zara, Federico;
    • Helbig, Ingo;
    • Muona, Mikko;
    • Courage, Carolina
    Publication type:
    Article

  • Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 16, p. 4483, doi. 10.1093/hmg/ddv171
    By:
    • Damiano, John A.;
    • Afawi, Zaid;
    • Bahlo, Melanie;
    • Mauermann, Monika;
    • Misk, Adel;
    • Arsov, Todor;
    • Oliver, Karen L.;
    • Dahl, Hans-Henrik M.;
    • Shearer, A. Eliot;
    • Smith, Richard J. H.;
    • Hall, Nathan E.;
    • Mahmood, Khalid;
    • Leventer, Richard J.;
    • Scheffer, Ingrid E.;
    • Muona, Mikko;
    • Lehesjoki, Anna-Elina;
    • Korczyn, Amos D.;
    • Herrmann, Harald;
    • Berkovic, Samuel F.;
    • Hildebrand, Michael S.
    Publication type:
    Article

  • Migraine, inflammatory bowel disease and celiac disease: A Mendelian randomization study.

    Published in:
    Headache: The Journal of Head & Face Pain, 2023, v. 63, n. 5, p. 642, doi. 10.1111/head.14470
    By:
    • Welander, Nike Zoe;
    • Rukh, Gull;
    • Rask‐Andersen, Mathias;
    • Harder, Aster V. E.;
    • Gormley, Padhraig;
    • Anttila, Verneri;
    • Winsvold, Bendik S.;
    • Palta, Priit;
    • Esko, Tonu;
    • Pers, Tune H.;
    • Farh, Kai‐How;
    • Cuenca‐Leon, Ester;
    • Muona, Mikko;
    • Furlotte, Nicholas A.;
    • Kurth, Tobias;
    • Ingason, Andres;
    • McMahon, George;
    • Ligthart, Lannie;
    • Terwindt, Gisela M.;
    • Kallela, Mikko
    Publication type:
    Article

  • GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.786705
    By:
    • Heliö, Krista;
    • Mäyränpää, Mikko I.;
    • Saarinen, Inka;
    • Ahonen, Saija;
    • Junnila, Heidi;
    • Tommiska, Johanna;
    • Weckström, Sini;
    • Holmström, Miia;
    • Toivonen, Mia;
    • Nikus, Kjell;
    • Hathaway, Julie;
    • Siivonen, Pauli;
    • Muona, Mikko;
    • Sistonen, Johanna;
    • Salmenperä, Pertteli;
    • Gentile, Massimiliano;
    • Paananen, Jussi;
    • Myllykangas, Samuel;
    • Alastalo, Tero-Pekka;
    • Heliö, Tiina
    Publication type:
    Article

  • Segmental Isotopic Labelling of a Multidomain Protein by Protein Ligation by Protein Trans-Splicing.

    Published in:
    ChemBioChem, 2008, v. 9, n. 18, p. 2958, doi. 10.1002/cbic.200800604
    By:
    • Muona, Mikko;
    • Aranko, A. Sesilja;
    • Iwai, Hideo
    Publication type:
    Article

  • A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17002-0
    By:
    • Guo, Yanjun;
    • Rist, Pamela M.;
    • Daghlas, Iyas;
    • Giulianini, Franco;
    • The International Headache Genetics Consortium;
    • Gormley, Padhraig;
    • Anttila, Verneri;
    • Winsvold, Bendik S.;
    • Palta, Priit;
    • Esko, Tonu;
    • Pers, Tune H.;
    • Farh, Kai-How;
    • Cuenca-Leon, Ester;
    • Muona, Mikko;
    • Furlotte, Nicholas A.;
    • Kurth, Tobias;
    • Ingason, Andres;
    • McMahon, George;
    • Ligthart, Lannie;
    • Terwindt, Gisela M.
    Publication type:
    Article