日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

基因检测在包含 2088 名扩张型心肌病患者的多国异质性队列中的诊断率

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

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

ADAM22双等位基因致病变异会导致进行性脑病和婴儿期发病的难治性癫痫。

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

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

在超过5000名未经筛选的患者队列中,RPGR介导的视网膜营养不良的患病率

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

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

包含 GCOM1、MYZAP 和 POLR2M 基因的 GRINL1A 复合转录单元与完全外显的隐性扩张型心肌病相关

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

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

在1376例HCM患者异质性队列中,基因检测的诊断率

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

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

对 375,000 名个体进行的荟萃分析确定了 38 个偏头痛易感基因位点

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 H H; 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 W J H; 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; Männikkö, 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 M J M; 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

Progressive myoclonus epilepsy associated with SACS gene mutations

与SACS基因突变相关的进行性肌阵挛性癫痫

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

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

KCNC1基因的复发性新生突变会导致进行性肌阵挛性癫痫

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

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

进行性肌阵挛性癫痫伴早期共济失调与核纤层蛋白基因LMNB2突变有关。

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

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

miR-135b-5p 对 DISC1 表达的等位基因特异性调控

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