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

Tekijä Rossi, Mari, Kilpinen, Helena, Muona, Mikko, Surakka, Ida, Ingle, Catherine, Lahtinen, Jenni, Hennah, William, Ripatti, Samuli, Hovatta, Iiris
Julkaistu 2014

Progressive myoclonus epilepsy associated with SACS gene mutations

Tekijä Nascimento, Fábio A., Canafoglia, Laura, Aljaafari, Danah, Muona, Mikko, Lehesjoki, Anna-Elina, Berkovic, Samuel F., Franceschetti, Silvana, Andrade, Danielle M.
Julkaisussa Neurol Genet (2016)

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Tekijä Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina
Julkaisussa Neurol Genet (2016)

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

Tekijä 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, Koskenvuo, Juha
Julkaisussa BMC Cardiovasc Disord (2021)

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

Tekijä 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.
Julkaisussa Hum Mol Genet (2015)

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

Tekijä 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, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero-Pekka, Heliö, Tiina
Julkaisussa PLoS One (2021)

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Tekijä Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsu, Masaaki
Julkaisussa Am J Hum Genet (2016)

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Tekijä Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina
Julkaisussa Am J Hum Genet (2021)

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Tekijä Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Julkaisussa Nat Genet (2014)

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Tekijä 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, Freilinger, Tobias M, Ran, Caroline, Gordon, Scott G, Stam, Anine H, Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab HH, Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A, Buring, Julie E, Schürks, Markus, Ridker, Paul M, Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M, Hottenga, Jouke-Jan, Penninx, Brenda WJH, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C, Madden, Pamela A F, Martin, Nicholas G, Montgomery, Grant W, Kurki, Mitja I, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E, Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H, Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G, Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Cherkas, Lynn, Pedersen, Linda M., Stubhaug, Audun, Nielsen, Christopher S, Männikkä, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Christensen, Anne Francke, Hansen, Thomas Folkmann, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J, Raitakari, Olli, Ikram, M Arfan, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P, Ferrari, Michel D, Belin, Andrea C, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn MJM, Zwart, John-Anker, Boomsma, Dorret I, Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J, Neale, Benjamin M, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, Palotie, Aarno
Julkaisussa Nat Genet (2016)