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

Shared Pathogenic Pathways Between REM Sleep Behavior Disorder and Neurodegenerative and Psychiatric Disorders

快速眼动睡眠行为障碍与神经退行性疾病和精神疾病的共同致病通路

Zhang, Zhao; Somerville, Emma N; Fang, Zih-Hua; Liu, Lang; Asayesh, Farnaz; Ahmad, Jamil; Amiri, Saeid; Teferra, Meron; Dodet, Pauline; Arnulf, Isabelle; Hu, Michele T M; Desautels, Alex; Dauvilliers, Yves; Aktan-Süzgün, Merve; Ibrahim, Abubaker; Stefani, Ambra; Högl, Birgit; Gaig, Carles; Montini, Angelica; Maya, Gerard; Iranzo, Alex; Serradell, Monica; Gigli, Gian Luigi; Valente, Mariarosaria; Janes, Francesco; Bernardini, Andrea; Sonka, Karel; Kemlink, David; Dusek, Petr; Sommerauer, Michael; Röttgen, Sinah; Figorilli, Michela; Puligheddu, Monica; Mollenhauer, Brit; Trenkwalder, Claudia; Sixel-Doring, Friederike; Plazzi, Giuseppe; Biscarini, Francesco; Antelmi, Elena; De Cock, Valerie Cochen; Terzaghi, Michele; Fiamingo, Giuseppe; Heidbreder, Anna; Ferini-Strambi, Luigi; Ostrozovicova, Miriam; Skorvanek, Matej; Kulcsarova, Kristina; Buskova, Jitka; Abril, Beatriz; Orso, Beatrice; Mattioli, Pietro; Arnaldi, Dario; Boeve, Bradley F; Ju, Yo-El; Ross, Owen A; Wu, Shih-Ying; Lee, Jonghun; Prilutsky, Daria; Blauwendraat, Cornelis; Leonard, Hampton; Postuma, Ronald B; Rouleau, Guy A; Gan-Or, Ziv

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Genome-wide association study of REM sleep behavior disorder in Parkinson's disease

帕金森病快速眼动睡眠行为障碍的全基因组关联研究

Sosero, Yuri L; Heilbron, Karl; Fontanillas, Pierre; Norcliffe-Kaufmann, Lucy; Yu, Eric; Rudakou, Uladzislau; Ruskey, Jennifer A; Freeman, Kathryn; Asayesh, Farnaz; Brolin, Kajsa A; Swanberg, Maria; Morris, Huw R; Wu, Lesley; Real, Raquel; Pihlstrøm, Lasse; Tan, Manuela; Gasser, Thomas; Brockmann, Kathrin; Liu, Hui; Hu, Michele T M; Grosset, Donald G; Lewis, Simon J G; Kwok, John B; Pastor, Pau; Alvarez, Ignacio; Skorvanek, Matej; Lackova, Alexandra; Ostrozovicova, Miriam; Rizig, Mie; Krohn, Lynne; Gan-Or, Ziv

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease

LRRK2 p.L1795F 变异在中欧早发性和家族性帕金森病患者中的患病率和临床特征

Ostrozovicova, Miriam; Tamas, Gertrud; Atputhavadivel, Agsha; Dusek, Petr; Grofik, Milan; Han, Vladimir; Holly, Petr; Jech, Robert; Kalinova, Katarina; Klivenyi, Peter; Kovacs, Norbert; Kulcsarova, Kristina; Kurca, Egon; Lackova, Alexandra; Lee, Hamin; Lewis, Patrick; Magocova, Veronika; Marekova, Maria; Murphy, David; Nagano, Ai; Necpal, Jan; Pinter, David; Rabajdova, Miroslava; Ruzicka, Evzen; Serranova, Tereza; Smilowska, Katarzyna; Soos, Krisztina; Straka, Igor; Svorenova, Tatiana; Valkovic, Peter; Zarubova, Katerina; Gdovinova, Zuzana; Houlden, Henry; Rizig, Mie; Skorvanek, Matej

CNV-Finder: Streamlining Copy Number Variation Discovery

CNV-Finder:简化拷贝数变异发现流程

Kuznetsov, Nicole; Daida, Kensuke; Makarious, Mary B; Al-Mubarak, Bashayer; Brolin, Kajsa Atterling; Malik, Laksh; Kouam, Cedric; Baker, Breeana; Real, Raquel; Step, Kathryn; Lange, Lara M; Wu, Lesley; Ostrozovicova, Miriam; Andersh, Katherine M; Kung, Pin-Jui; Mecheri, Yasser; Tay, Yi-Wen; Malek, Behloul Soundous; Al Tassan, Nada; Periñan, Maria Teresa; Hong, Samantha; Koretsky, Mathew J; Sargeant, Lana; Levine, Kristin; Blauwendraat, Cornelis; Billingsley, Kimberley J; Bandres-Ciga, Sara; Leonard, Hampton L; Bardien, Soraya; Morris, Huw R; Singleton, Andrew B; Nalls, Mike A; Vitale, Dan

Central European Group on Genetics of Movement Disorders

中欧运动障碍遗传学研究组

Ostrozovicova, Miriam; Dusek, Petr; Grofik, Milan; Han, Vladimir; Holly, Petr; Jech, Robert; Klivenyi, Peter; Kovacs, Norbert; Kulcsarova, Kristina; Kurca, Egon; Lackova, Alexandra; Magocova, Veronika; Necpal, Jan; Pinter, David; Ruzicka, Evzen; Serranova, Tereza; Smilowska, Katarzyna; Straka, Igor; Svorenova, Tatiana; Tamas, Gertrud; Valkovic, Peter; Zarubova, Katerina; Houlden, Henry; Rizig, Mie; Skorvanek, Matej

p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.

p.L1795F LRRK2 变异是中欧地区帕金森病的常见病因

Ostrozovicova Miriam, Tamas Gertrud, Dušek Petr, Grofik Milan, Han Vladimir, Holly Petr, Jech Robert, Kalinova Katarina, Klivenyi Peter, Kovacs Norbert, Kulcsarova Kristina, Kurca Egon, Lackova Alexandra, Lee Hamin, Lewis Patrick, Magocova Veronika, Marekova Maria, Murphy David, Necpal Jan, Pinter David, Rabajdova Miroslava, Růžička Evžen, Serranova Tereza, Smilowska Katarzyna, Soos Krisztina, Straka Igor, Svorenova Tatiana, Valkovic Peter, Zarubova Katerina, Gdovinova Zuzana, Houlden Henry, Rizig Mie, Skorvanek Matei