Progressive myoclonus epilepsy associated with SACS gene mutations

por Nascimento, Fábio A., Canafoglia, Laura, Aljaafari, Danah, Muona, Mikko, Lehesjoki, Anna-Elina, Berkovic, Samuel F., Franceschetti, Silvana, Andrade, Danielle M.
Publicado 2016

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

por Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina
Publicado 2016

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

por Heliö, Krista, Cicerchia, Marcos, Hathaway, Julie, Tommiska, Johanna, Huusko, Johanna, Saarinen, Inka, Koskinen, Lotta, Muona, Mikko, Kytölä, Ville, Djupsjöbacka, Janica, Gentile, Massimiliano, Salmenperä, Pertteli, Alastalo, Tero-Pekka, Steinberg, Christian, Heliö, Tiina, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Publicado 2023

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

por 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
Publicado 2021

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

por 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, Koskenvuo, Juha
Publicado 2021

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

por Tuupanen, Sari, Gall, Kimberly, Sistonen, Johanna, Saarinen, Inka, Kämpjärvi, Kati, Wells, Kirsty, Merkkiniemi, Katja, von Nandelstadh, Pernilla, Sarantaus, Laura, Känsäkoski, Johanna, Mårtenson, Emma, Västinsalo, Hanna, Schleit, Jennifer, Sankila, Eeva-Marja, Kere, Annakarin, Junnila, Heidi, Siivonen, Pauli, Andreevskaya, Margarita, Kytölä, Ville, Muona, Mikko, Salmenperä, Pertteli, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Publicado 2022

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

por 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
Publicado 2021

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

por 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, Lim, Wooi Fang, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Muona, Mikko, Courage, Carolina, Lehesjoki, Anna-Elina, Berkovic, Samuel F, Fischbeck, Kenneth H, Brancati, Francesco, Morimoto, Richard I, Wood, Matthew J A, Rinaldi, Carlo
Publicado 2021

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

por van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
Publicado 2022