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

Targeting adenocarcinoma and enzalutamide‑resistant prostate cancer using the novel anti‑androgen inhibitor ADA‑308

使用新型抗雄激素抑制剂 ADA-308 靶向治疗腺癌和恩杂鲁胺耐药前列腺癌

Shaghayegh Nouruzi #, Fraser Johnson #, Sahil Kumar, Olena Sivak, Nakisa Tabrizian, Milla Koistinaho, Anu Muona, Amina Zoubeidi

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

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

进行性肌阵挛性癫痫-残留未解决病例具有明显的遗传异质性,包括多萜醇依赖性蛋白糖基化途径基因

Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M Dibbens, Barbara Castellotti, Patrizia R

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

由 SLC7A6OS 纯合剪接变异引起的进行性肌阵挛性癫痫

Laure Mazzola, Karen L Oliver, Audrey Labalme, Betül Baykan, Mikko Muona, Tarja H Joensuu, Carolina Courage, Nicolas Chatron, Giuseppe Borsani, Eudeline Alix, Francis Ramond, Renaud Touraine, Melanie Bahlo, Nerses Bebek, Samuel F Berkovic, Anna-Elina Lehesjoki, Gaetan Lesca

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates

RNA 结合蛋白 CELF2 的核质运输调节神经干细胞的命运

Melissa J MacPherson, Sarah L Erickson, Drayden Kopp, Pengqiang Wen, Mohamad-Reza Aghanoori, Shreeya Kedia, Kaylan M L Burns, Antonio Vitobello, Frederic Tran Mau-Them, Quentin Thomas, Nina B Gold, William Brucker, Louise Amlie-Wolf, Karen W Gripp, Olaf Bodamer, Laurence Faivre, Mikko Muona, Lara Me

An arylthiazyne derivative is a potent inhibitor of lipid peroxidation and ferroptosis providing neuroprotection in vitro and in vivo

芳基噻嗪衍生物是脂质过氧化和铁死亡的有效抑制剂,可在体外和体内提供神经保护

Meike Hedwig Keuters, Velta Keksa-Goldsteine, Hiramani Dhungana, Mikko T Huuskonen, Yuriy Pomeshchik, Ekaterina Savchenko, Paula K Korhonen, Yajuvinder Singh, Sara Wojciechowski, Šárka Lehtonen, Katja M Kanninen, Tarja Malm, Jouni Sirviö, Anu Muona, Milla Koistinaho, Gundars Goldsteins, Jari Koistin

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