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

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

全基因组分析揭示了MAPT、MOBP和APOE基因位点在散发性额颞叶痴呆症中的潜在作用

Manzoni, Claudia; Kia, Demis A; Ferrari, Raffaele; Leonenko, Ganna; Costa, Beatrice; Saba, Valentina; Jabbari, Edwin; Tan, Manuela Mx; Albani, Diego; Alvarez, Victoria; Alvarez, Ignacio; Andreassen, Ole A; Angiolillo, Antonella; Arighi, Andrea; Baker, Matt; Benussi, Luisa; Bessi, Valentina; Binetti, Giuliano; Blackburn, Daniel J; Boada, Merce; Boeve, Bradley F; Borrego-Ecija, Sergi; Borroni, Barbara; Bråthen, Geir; Brooks, William S; Bruni, Amalia C; Caroppo, Paola; Bandres-Ciga, Sara; Clarimon, Jordi; Colao, Rosanna; Cruchaga, Carlos; Danek, Adrian; de Boer, Sterre Cm; de Rojas, Itziar; di Costanzo, Alfonso; Dickson, Dennis W; Diehl-Schmid, Janine; Dobson-Stone, Carol; Dols-Icardo, Oriol; Donizetti, Aldo; Dopper, Elise; Durante, Elisabetta; Ferrari, Camilla; Forloni, Gianluigi; Frangipane, Francesca; Fratiglioni, Laura; Kramberger, Milica G; Galimberti, Daniela; Gallucci, Maurizio; García-González, Pablo; Ghidoni, Roberta; Giaccone, Giorgio; Graff, Caroline; Graff-Radford, Neill R; Grafman, Jordan; Halliday, Glenda M; Hernandez, Dena G; Hjermind, Lena E; Hodges, John R; Holloway, Guy; Huey, Edward D; Illán-Gala, Ignacio; Josephs, Keith A; Knopman, David S; Kristiansen, Mark; Kwok, John B; Leber, Isabelle; Leonard, Hampton L; Libri, Ilenia; Lleo, Alberto; Mackenzie, Ian R; Madhan, Gaganjit K; Maletta, Raffaele; Marquié, Marta; Maver, Ales; Menendez-Gonzalez, Manuel; Milan, Graziella; Miller, Bruce L; Morris, Christopher M; Morris, Huw R; Nacmias, Benedetta; Newton, Judith; Nielsen, Jørgen E; Nilsson, Christer; Novelli, Valeria; Padovani, Alessandro; Pal, Suvankar; Pasquier, Florence; Pastor, Pau; Perneczky, Robert; Peterlin, Borut; Petersen, Ronald C; Piguet, Olivier; Pijnenburg, Yolande Al; Puca, Annibale A; Rademakers, Rosa; Rainero, Innocenzo; Reus, Lianne M; Richardson, Anna Mt; Riemenschneider, Matthias; Rogaeva, Ekaterina; Rogelj, Boris; Rollinson, Sara; Rosen, Howard; Rossi, Giacomina; Rowe, James B; Rubino, Elisa; Ruiz, Agustin; Salvi, Erika; Sanchez-Valle, Raquel; Sando, Sigrid Botne; Santillo, Alexander F; Saxon, Jennifer A; Schlachetzki, Johannes Cm; Scholz, Sonja W; Seelaar, Harro; Seeley, William W; Serpente, Maria; Sorbi, Sandro; Sordon, Sabrina; St George-Hyslop, Peter; Thompson, Jennifer C; Van Broeckhoven, Christine; Van Deerlin, Vivianna M; Van der Lee, Sven J; Van Swieten, John; Tagliavini, Fabrizio; van der Zee, Julie; Veronesi, Arianna; Vitale, Emilia; Waldo, Maria Landqvist; Yokoyama, Jennifer S; Nalls, Mike A; Momeni, Parastoo; Singleton, Andrew B; Hardy, John; Escott-Price, Valentina

Exploring the Role of Plasma Lipids and Statin Interventions on Multiple Sclerosis Risk and Severity: A Mendelian Randomization Study

探讨血浆脂质和他汀类药物干预对多发性硬化症风险和严重程度的影响:一项孟德尔随机化研究

Almramhi, Mona M; Finan, Chris; Storm, Catherine S; Schmidt, Amand F; Kia, Demis A; Coneys, Rachel; Chopade, Sandesh; Hingorani, Aroon D; Wood, Nick W

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci

NSL复合物对线粒体自噬的调控是16q11.2和MAPT H1基因位点帕金森病遗传风险的基础。

Marc P M Soutar,Daniela Melandri,Benjamin O'Callaghan,Emily Annuario,Amy E Monaghan,Natalie J Welsh,Karishma D'Sa,Sebastian Guelfi,David Zhang,Alan Pittman,Daniah Trabzuni,Anouk H A Verboven,Kylie S Pan,Demis A Kia,Magda Bictash,Sonia Gandhi,Henry Houlden,Mark R Cookson,Nael Nadif Kasri,Nicholas W Wood,Andrew B Singleton,John Hardy,Paul J Whiting,Cornelis Blauwendraat,Alexander J Whitworth,Claudia Manzoni,Mina Ryten,Patrick A Lewis,Hélène Plun-Favreau

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

MIR-NATs抑制MAPT翻译并帮助维持神经退行性疾病中的蛋白质稳态

Roberto Simone ,Faiza Javad ,Warren Emmett ,Oscar G Wilkins ,Filipa Lourenço Almeida ,Natalia Barahona-Torres ,Justyna Zareba-Paslawska ,Mazdak Ehteramyan ,Paola Zuccotti ,Angelika Modelska ,Kavitha Siva ,Gurvir S Virdi ,Jamie S Mitchell ,Jasmine Harley ,Victoria A Kay ,Geshanthi Hondhamuni ,Daniah Trabzuni ,Mina Ryten ,Selina Wray ,Elisavet Preza ,Demis A Kia ,Alan Pittman ,Raffaele Ferrari ,Claudia Manzoni ,Andrew Lees ,John A Hardy ,Michela A Denti ,Alessandro Quattrone ,Rickie Patani ,Per Svenningsson ,Thomas T Warner ,Vincent Plagnol ,Jernej Ule ,Rohan de Silva

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets

通过整合全基因组关联研究、表达和表观遗传数据集来识别帕金森病候选基因

Demis A Kia, David Zhang, Sebastian Guelfi, Claudia Manzoni, Leon Hubbard, Regina H Reynolds, Juan Botía, Mina Ryten, Raffaele Ferrari, Patrick A Lewis, Nigel Williams, Daniah Trabzuni, John Hardy, Nicholas W Wood; United Kingdom Brain Expression Consortium (UKBEC) and the International Parkinson’s

Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome

利用孟德尔随机化方法筛选帕金森病药物靶点

Storm, Catherine S; Kia, Demis A; Almramhi, Mona M; Bandres-Ciga, Sara; Finan, Chris; Hingorani, Aroon D; Wood, Nicholas W

C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

C9orf72基因型、发病年龄和祖籍有助于区分FTLD患者群体中的行为变异和语言变异。

Costa, Beatrice; Manzoni, Claudia; Bernal-Quiros, Manuel; Kia, Demis A; Aguilar, Miquel; Alvarez, Ignacio; Alvarez, Victoria; Andreassen, Ole; Anfossi, Maria; Bagnoli, Silvia; Benussi, Luisa; Bernardi, Livia; Binetti, Giuliano; Blackburn, Daniel; Boada, Mercè; Borroni, Barbara; Bowns, Lucy; Bråthen, Geir; Bruni, Amalia C; Chiang, Huei-Hsin; Clarimon, Jordi; Colville, Shuna; Conidi, Maria E; Cope, Tom E; Cruchaga, Carlos; Cupidi, Chiara; Di Battista, Maria Elena; Diehl-Schmid, Janine; Diez-Fairen, Monica; Dols-Icardo, Oriol; Durante, Elisabetta; Flisar, Dušan; Frangipane, Francesca; Galimberti, Daniela; Gallo, Maura; Gallucci, Maurizio; Ghidoni, Roberta; Graff, Caroline; Grafman, Jordan H; Grossman, Murray; Hardy, John; Hernández, Isabel; Holloway, Guy J T; Huey, Edward D; Illán-Gala, Ignacio; Karydas, Anna; Khoshnood, Behzad; Kramberger, Milica G; Kristiansen, Mark; Lewis, Patrick A; Lleó, Alberto; Madhan, Gaganjit K; Maletta, Raffaele; Maver, Aleš; Menendez-Gonzalez, Manuel; Milan, Graziella; Miller, Bruce; Mol, Merel O; Momeni, Parastoo; Moreno-Grau, Sonia; Morris, Chris M; Nacmias, Benedetta; Nilsson, Christer; Novelli, Valeria; Öijerstedt, Linn; Padovani, Alessandro; Pal, Suvankar; Panchbhaya, Yasmin; Pastor, Pau; Peterlin, Borut; Piaceri, Irene; Pickering-Brown, Stuart; Pijnenburg, Yolande A L; Puca, Annibale A; Rainero, Innocenzo; Rendina, Antonella; Richardson, Anna M T; Rogaeva, Ekaterina; Rogelj, Boris; Rollinson, Sara; Rossi, Giacomina; Rossmeier, Carola; Rowe, James B; Rubino, Elisa; Ruiz, Agustín; Sanchez-Valle, Raquel; Sando, Sigrid B; Santillo, Alexander F; Saxon, Jennifer; Scarpini, Elio; Serpente, Maria; Smirne, Nicoletta; Sorbi, Sandro; Suh, EunRan; Tagliavini, Fabrizio; Thompson, Jennifer C; Trojanowski, John Q; Van Deerlin, Vivianna M; Van der Zee, Julie; Van Broeckhoven, Christine; van Rooij, Jeroen; Van Swieten, John C; Veronesi, Arianna; Vitale, Emilia; Waldö, Maria L; Woodward, Cathy; Yokoyama, Jennifer; Escott-Price, Valentina; Polke, James M; Ferrari, Raffaele

Using Mendelian randomization to understand and develop treatments for neurodegenerative disease

利用孟德尔随机化来理解和开发神经退行性疾病的治疗方法

Storm, Catherine S; Kia, Demis A; Almramhi, Mona; Wood, Nicholas W

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

帕金森病新风险位点、因果关系及遗传风险的鉴定:全基因组关联研究的荟萃分析

Nalls, Mike A; Blauwendraat, Cornelis; Vallerga, Costanza L; Heilbron, Karl; Bandres-Ciga, Sara; Chang, Diana; Tan, Manuela; Kia, Demis A; Noyce, Alastair J; Xue, Angli; Bras, Jose; Young, Emily; von Coelln, Rainer; Simón-Sánchez, Javier; Schulte, Claudia; Sharma, Manu; Krohn, Lynne; Pihlstrøm, Lasse; Siitonen, Ari; Iwaki, Hirotaka; Leonard, Hampton; Faghri, Faraz; Gibbs, J Raphael; Hernandez, Dena G; Scholz, Sonja W; Botia, Juan A; Martinez, Maria; Corvol, Jean-Christophe; Lesage, Suzanne; Jankovic, Joseph; Shulman, Lisa M; Sutherland, Margaret; Tienari, Pentti; Majamaa, Kari; Toft, Mathias; Andreassen, Ole A; Bangale, Tushar; Brice, Alexis; Yang, Jian; Gan-Or, Ziv; Gasser, Thomas; Heutink, Peter; Shulman, Joshua M; Wood, Nicholas W; Hinds, David A; Hardy, John A; Morris, Huw R; Gratten, Jacob; Visscher, Peter M; Graham, Robert R; Singleton, Andrew B

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

帕金森病中LRRK2功能丧失变异的频率

Blauwendraat, Cornelis; Reed, Xylena; Kia, Demis A; Gan-Or, Ziv; Lesage, Suzanne; Pihlstrøm, Lasse; Guerreiro, Rita; Gibbs, J Raphael; Sabir, Marya; Ahmed, Sarah; Ding, Jinhui; Alcalay, Roy N; Hassin-Baer, Sharon; Pittman, Alan M; Brooks, Janet; Edsall, Connor; Hernandez, Dena G; Chung, Sun Ju; Goldwurm, Stefano; Toft, Mathias; Schulte, Claudia; Bras, Jose; Wood, Nicholas W; Brice, Alexis; Morris, Huw R; Scholz, Sonja W; Nalls, Mike A; Singleton, Andrew B; Cookson, Mark R