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

Genome-wide association study of copy number variations in Parkinson's disease

帕金森病拷贝数变异的全基因组关联研究

Landoulsi, Zied; Sreelatha, Ashwin Ashok Kumar; Kuznetsov, Nicole; Schulte, Claudia; Bobbili, Dheeraj Reddy; Montanucci, Ludovica; Leu, Costin; Niestroj, Lisa-Marie; Hassanin, Emadeldin; Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Portugal, Berta; Edsall, Connor; Kru Ger, Jens; Hernandez, Dena G; Blauwendraat, Cornelis; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Tan, Manuela; Rogaeva, Ekaterina; Lang, Anthony; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugenie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Burbulla, Lena F; Matsuo, Hirotaka; Nakayama, Akiyoshi; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Pavelka, Lukas; Kolber, Pierre; van de Warrenburg, Bart Pc; Bloem, Bastiaan R; Singleton, Andrew B; Vitale, Dan; Toft, Mathias; Pihlstrom, Lasse; Guedes, Leonor Correia; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Clarke, Carl E; Morrison, Karen E; Krainc, Dimitri; Farrer, Matt J; Lal, Dennis; Elbaz, Alexis; Gasser, Thomas; Krüger, Rejko; Sharma, Manu; May, Patrick

Association of Body Mass Index and Parkinson Disease: A Bidirectional Mendelian Randomization Study

体重指数与帕金森病的相关性:一项双向孟德尔随机化研究

Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Ashok Kumar Sreelatha, Ashwin; Schulte, Claudia; Grover, Sandeep; Portugal, Berta; Lee, Pei-Chen; May, Patrick; Bobbili, Dheeraj; Radivojkov Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B; Hernandez, Dena; Edsall, Connor; Mellick, George D; Zimprich, Alexander A; Pirker, Walter; Rogaeva, Ekaterina A; Lang, Anthony E; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugenie; Brockmann, Kathrin; Deutschlander, Angela B; Hadjigeorgiou, Georgios M; Dardiotis, Efthimios; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Straniero, Letizia; Zecchinelli, Anna L; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Matsuo, Hirotaka; Nakayama, Akiyoshi; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Kolber, Pierre; Van De Warrenburg, Bart P C; Bloem, Bastiaan R; Toft, Mathias; Pihlstrøm, Lasse; Correia Guedes, Leonor; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez-Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Hellberg, Clara; Clarke, Carl E; Morrison, Karen E; Tan, Manuela M; Krainc, Dimitri; Burbulla, Lena F; Farrer, Matthew; Kruger, Rejko; Gasser, Thomas; Sharma, Manu; Elbaz, Alexis

Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

帕金森病与癌症共同遗传风险因素的研究

Sugier, Pierre-Emmanuel; Lucotte, Elise A; Domenighetti, Cloé; Law, Matthew H; Iles, Mark M; Brown, Kevin; Amos, Christopher; McKay, James D; Hung, Rayjean J; Karimi, Mojgan; Bacq-Daian, Delphine; Boland-Augé, Anne; Olaso, Robert; Deleuze, Jean-François; Lesueur, Fabienne; Ostroumova, Evgenia; Kesminiene, Ausrele; de Vathaire, Florent; Guénel, Pascal; Sreelatha, Ashwin Ashok Kumar; Schulte, Claudia; Grover, Sandeep; May, Patrick; Bobbili, Dheeraj R; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B; Hernandez, Dena G; Edsall, Connor; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Rogaeva, Ekaterina; Lang, Anthony E; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugénie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimios; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Matsuo, Hirotaka; Nakayama, Akiyoshi; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Kolber, Pierre; van de Warrenburg, Bart P C; Bloem, Bastiaan R; Aasly, Jan; Toft, Mathias; Pihlstrøm, Lasse; Guedes, Leonor Correia; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez-Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Rödström, Emil Ygland; Clarke, Carl E; Morrison, Karen E; Tan, Manuela; Krainc, Dimitri; Burbulla, Lena F; Farrer, Matt J; Kruger, Rejko; Gasser, Thomas; Sharma, Manu; Truong, Thérèse; Elbaz, Alexis

PAK6-mediated phosphorylation of PPP2R2C regulates LRRK2-PP2A complex formation

PAK6 介导的 PPP2R2C 磷酸化调节 LRRK2-PP2A 复合物的形成

Lucia Iannotta, Marco Emanuele, Giulia Favetta, Giulia Tombesi, Laurine Vandewynckel, Antonio Jesús Lara Ordóñez, Jean-Michel Saliou, Matthieu Drouyer, William Sibran, Laura Civiero, R Jeremy Nichols, Panagiotis S Athanasopoulos, Arjan Kortholt, Marie-Christine Chartier-Harlin, Elisa Greggio, Jean-M

Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium

帕金森病发病年龄的全基因组关联分析和荟萃分析:来自 COURAGE-PD 联盟的证据

Grover, Sandeep; Kumar Sreelatha, Ashwin Ashok; Pihlstrom, Lasse; Domenighetti, Cloé; Schulte, Claudia; Sugier, Pierre-Emmanuel; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Mohamed, Océane; Portugal, Berta; Landoulsi, Zied; May, Patrick; Bobbili, Dheeraj; Edsall, Connor; Bartusch, Felix; Hanussek, Maximilian; Krüger, Jens; Hernandez, Dena G; Blauwendraat, Cornelis; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Tan, Manuela; Rogaeva, Ekaterina; Lang, Anthony; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugenie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Burbulla, Lena F; Matsuo, Hirotaka; Kawamura, Yusuke; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Pavelka, Lukas; van de Warrenburg, Bart P C; Bloem, Bastiaan R; Singleton, Andrew B; Aasly, Jan; Toft, Mathias; Guedes, Leonor Correia; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez-Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Hellberg, Clara; Clarke, Carl E; Morrison, Karen E; Krainc, Dimitri; Farrer, Matt J; Kruger, Rejko; Elbaz, Alexis; Gasser, Thomas; Sharma, Manu

The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited

帕金森病中HLA-DRB1与吸烟相互作用的再探讨

Domenighetti, Cloé; Douillard, Venceslas; Sugier, Pierre-Emmanuel; Sreelatha, Ashwin Ashok Kumar; Schulte, Claudia; Grover, Sandeep; May, Patrick; Bobbili, Dheeraj R; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B; Hernandez, Dena G; Edsall, Connor; Gourraud, Pierre-Antoine; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Rogaeva, Ekaterina; Lang, Anthony E; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugénie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Duga, Stefano; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Matsuo, Hirotaka; Nakayama, Akiyoshi; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Kolber, Pierre; van de Warrenburg, Bart P C; Bloem, Bastiaan R; Aasly, Jan; Toft, Mathias; Pihlstrøm, Lasse; Correia Guedes, Leonor; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez-Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Ygland Rödström, Emil; Clarke, Carl E; Morrison, Karen E; Tan, Manuela; Krainc, Dimitri; Burbulla, Lena F; Farrer, Matt J; Krüger, Rejko; Gasser, Thomas; Sharma, Manu; Vince, Nicolas; Elbaz, Alexis

Evaluation of Current Methods to Detect Cellular Leucine-Rich Repeat Kinase 2 (LRRK2) Kinase Activity

评估当前检测细胞富含亮氨酸重复激酶 2 (LRRK2) 激酶活性的方法

Belén Fernández, Vinita G Chittoor-Vinod, Jillian H Kluss, Kaela Kelly, Nicole Bryant, An Phu Tran Nguyen, Syed A Bukhari, Nathan Smith, Antonio Jesús Lara Ordóñez, Elena Fdez, Marie-Christine Chartier-Harlin, Thomas J Montine, Mark A Wilson, Darren J Moore, Andrew B West, Mark R Cookson, R Jeremy N

A Phosphosite Mutant Approach on LRRK2 Links Phosphorylation and Dephosphorylation to Protective and Deleterious Markers, Respectively

LRRK2磷酸化位点突变方法将磷酸化和去磷酸化分别与保护性和有害性标记联系起来

Marchand, Antoine; Sarchione, Alessia; Athanasopoulos, Panagiotis S; Roy, Hélène Bauderlique-Le; Goveas, Liesel; Magnez, Romain; Drouyer, Matthieu; Emanuele, Marco; Ho, Franz Y; Liberelle, Maxime; Melnyk, Patricia; Lebègue, Nicolas; Thuru, Xavier; Nichols, R Jeremy; Greggio, Elisa; Kortholt, Arjan; Galli, Thierry; Chartier-Harlin, Marie-Christine; Taymans, Jean-Marc

Abstracts from the 24th Annual Meeting of the Irish Society of Human Genetics: Virtual Conference, 17(th) September 2021

爱尔兰人类遗传学会第24届年会(线上会议,2021年9月17日)摘要

Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Sreelatha, Ashwin Ashok Kumar; Schulte, Claudia; Grover, Sandeep; Mohamed, Océane; Portugal, Berta; May, Patrick; Bobbili, Dheeraj R; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B; Hernandez, Dena G; Edsall, Connor; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Rogaeva, Ekaterina; Lang, Anthony E; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugénie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Duga, Stefano; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Matsuo, Hirotaka; Kawamura, Yusuke; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Kolber, Pierre; van de Warrenburg, Bart Pc; Bloem, Bastiaan R; Aasly, Jan; Toft, Mathias; Pihlstrøm, Lasse; Guedes, Leonor Correia; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez-Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Hellberg, Clara; Clarke, Carl E; Morrison, Karen E; Tan, Manuela; Krainc, Dimitri; Burbulla, Lena F; Farrer, Matt J; Krüger, Rejko; Gasser, Thomas; Sharma, Manu; Elbaz, Alexis

The Roc domain of LRRK2 as a hub for protein-protein interactions: a focus on PAK6 and its impact on RAB phosphorylation

LRRK2 的 Roc 结构域作为蛋白质-蛋白质相互作用的枢纽:重点关注 PAK6 及其对 RAB 磷酸化的影响

Susanna Cogo, Franz Y Ho, Elena Tosoni, James E Tomkins, Isabella Tessari, Lucia Iannotta, Thomas J Montine, Claudia Manzoni, Patrick A Lewis, Luigi Bubacco, Marie-Christine Chartier Harlin, Jean-Marc Taymans, Arjan Kortholt, Jeremy Nichols, Laura Cendron, Laura Civiero, Elisa Greggio