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

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

GOLGA8A基因的重复扩增是伴有泛素阳性包涵体的非典型额颞叶变性的主要风险因素。

De Coster, Wouter; Van den Broeck, Marleen; Baker, Matt; Ghayal, Nikhil B; Wynants, Sarah; Batzler, Anthony; Pottier, Cyril; Alidadiani, Sara; Küçükali, Fahri; Jenkins, Gregory D; Policarpo, Rafaela; van Blitterswijk, Marka; DeJesus-Hernandez, Mariely; Soto-Beasley, Alexandra I; Faura, Júlia; Coopman, Elise; Hutten, Saskia; Mol, Merel O; Wallon, David; Sieben, Anne; Finger, Elizabeth C; Murray, Melissa E; Forrest, Shelley L; Tartaglia, Maria C; Troakes, Claire; van Rooij, Jeroen G J; Nguyen, Aivi T; Reichard, R Ross; Woodman, Natalie L; Nana, Alissa L; Weintraub, Sandra; Gefen, Tamar; De Vil, Bart; Bodi, Istvan; Lopez, Oscar L; Boluda, Susana; Belliard, Serge; Lebert, Florence; Marguet, Florent; Mao, Qinwen; Mesulam, Marsel M; Boxer, Adam L; Vandenbulcke, Mathieu; Suh, EunRan; Schaeverbeke, Jolien; Lambert, Jean-Charles; Scholz, Sonja W; Dalgard, Clifton L; Traynor, Bryan J; Gibbs, Raphael J; Schellenberg, Gerard D; Dormann, Dorothee; Joris, Geert; De Pooter, Tim; De Rijk, Peter; D'Hert, Svenn; Van Dongen, Jasper; van der Zee, Julie; Strazisar, Mojca; Gearing, Marla; Kukar, Thomas; Flanagan, Margaret; Engelborghs, Sebastiaan; Ghetti, Bernardino; Newell, Kathy L; King, Andrew; Roeber, Sigrun; Rosen, Howard J; Spina, Salvatore; Cras, Patrick; Ertekin-Taner, Nilüfer; Wszolek, Zbigniew K; Uitti, Ryan J; Cheshire, William P; Singer, Wolfgang; Herms, Jochen; Josephs, Keith A; Whitwell, Jennifer L; Petersen, Ronald C; Pasquier, Florence; Nicolas, Gaël; Castellani, Rudolph; Glass, Jonathan; Miller, Bruce L; Kovacs, Gabor G; Rissman, Robert A; Hiniker, Annie; Deramecourt, Vincent; Ang, Lee-Cyn; Lee-Way, Jin; Van Deerlin, Vivianna M; Dugger, Brittany N; Thal, Dietmar R; Grinberg, Lea T; Cruchaga, Carlos; Arzberger, Thomas; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Lee, Edward B; Haggarty, Stephen J; Ansorge, Olaf; Husain, Masud; Halliday, Glenda M; Al-Sarraj, Safa; Ross, Owen A; Sleegers, Kristel; Vandenberghe, Rik; Boeve, Bradley F; Graff-Radford, Neill R; Kofler, Julia; White, Charles L 3rd; Lashley, Tammaryn; Neumann, Manuela; Biernacka, Joanna M; Seeley, William W; Seelaar, Harro; van Swieten, John C; Rohrer, Jonathan D; Dickson, Dennis W; Mackenzie, Ian R A; Rademakers, Rosa

Human FUS is toxic via association with RNA polymerase II in Drosophila.

人类 FUS 通过与果蝇 RNA 聚合酶 II 结合而产生毒性。

Moens Thomas G, Biasetti Luca, Scheveneels Wendy, Smith Bradley N, Troakes Claire, Van Damme Philip, Vance Caroline, Van Den Bosch Ludo

Pathology and genetics in a global cohort of Parkinsonian Disorders

全球帕金森病患者队列的病理学和遗传学研究

Wu, Lesley Y; du Toit, Tessa; Georgiades, Tatiana; Stafford, Eleanor J; Levine, Kristin; Fang, Zih-Hua; Jasaityte, Simona; Martinez, Ana-Luisa Gil; Cullinane, Patrick; De Pablo Fernandez, Eduardo; Blauwendraat, Cornelis; Singleton, Andrew B; Scholz, Sonja W; Traynor, Bryan J; Wood, Nicholas; Hardy, John; Chinnery, Patrick; Houlden, Henry; Cain, Richard; Troakes, Claire; Chelban, Viorica; Serrano, Geidy E; Gveric, Djordje; McLean, Catriona; Love, Seth; King, Andrew; Robinson, Andrew C; Roncaroli, Federico; Shepherd, Claire; Halliday, Glenda; Parkkinen, Laura; Morris, Christopher M; Smith, Colin; Beach, Thomas G; Gentleman, Steve; Warner, Thomas T; Lashley, Tammaryn; Jaunmuktane, Zane; Real, Raquel; Morris, Huw R

Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes.

对具有 TDP-43 病理的 FTLD 患者进行甲基化组分析,可识别出病理亚型特有的表观遗传特征

Vicente Cristina T, Niranjan Tejasvi, Coopman Elise, Faura Júlia, Alidadiani Sara, Schrauwen Claudia, Matchett Billie J, Heeman Bavo, Van den Broeck Marleen, De Coster Wouter, Nguyen Thuy, Lau Julie S, Baheti Saurabh, de Pooter Tim, De Rijk Peter, Strazisar Mojca, Baker Matt, DeJesus-Hernandez Mariely, Finch NiCole A, Pottier Cyril, van Blitterswijk Marka, Asmann Yan, Murray Melissa E, Petrucelli Leonard, King Andrew, Troakes Claire, Al-Sarraj Safa, Rissman Robert A, Hiniker Annie, Flanagan Margaret, Evers Bret M, White Charles L 3rd, Cruchaga Carlos, Castellani Rudolph, van Rooij Jeroen G J, Mol Merel O, Seelaar Harro, van Swieten John C, Oskarsson Björn, Reichard Robert Ross, Nguyen Aivi T, Josephs Keith A, Petersen Ronald C, Ertekin-Taner Nilüfer, Boeve Bradley F, Graff-Radford Neill R, Weckhuysen Sarah, Dickson Dennis W, Rademakers Rosa

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

通过全基因组测序解析FTLD-TDP病理亚型的不同遗传风险因素

Pottier, Cyril; Küçükali, Fahri; Baker, Matt; Batzler, Anthony; Jenkins, Gregory D; van Blitterswijk, Marka; Vicente, Cristina T; De Coster, Wouter; Wynants, Sarah; Van de Walle, Pieter; Ross, Owen A; Murray, Melissa E; Faura, Júlia; Haggarty, Stephen J; van Rooij, Jeroen Gj; Mol, Merel O; Hsiung, Ging-Yuek R; Graff, Caroline; Öijerstedt, Linn; Neumann, Manuela; Asmann, Yan; McDonnell, Shannon K; Baheti, Saurabh; Josephs, Keith A; Whitwell, Jennifer L; Bieniek, Kevin F; Forsberg, Leah; Heuer, Hilary; Lago, Argentina Lario; Geier, Ethan G; Yokoyama, Jennifer S; Oddi, Alexis P; Flanagan, Margaret; Mao, Qinwen; Hodges, John R; Kwok, John B; Domoto-Reilly, Kimiko; Synofzik, Matthis; Wilke, Carlo; Onyike, Chiadi; Dickerson, Bradford C; Evers, Bret M; Dugger, Brittany N; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Suh, EunRan; Gefen, Tamar; Geula, Changiz; Weintraub, Sandra; Diehl-Schmid, Janine; Farlow, Martin R; Edbauer, Dieter; Woodruff, Bryan K; Caselli, Richard J; Donker Kaat, Laura L; Huey, Edward D; Reiman, Eric M; Mead, Simon; King, Andrew; Roeber, Sigrun; Nana, Alissa L; Ertekin-Taner, Nilufer; Knopman, David S; Petersen, Ronald C; Petrucelli, Leonard; Uitti, Ryan J; Wszolek, Zbigniew K; Ramos, Eliana Marisa; Grinberg, Lea T; Tempini, Maria Luisa Gorno; Rosen, Howard J; Spina, Salvatore; Piguet, Olivier; Grossman, Murray; Trojanowski, John Q; Keene, C Dirk; Jin, Lee-Way; Prudlo, Johannes; Geschwind, Daniel H; Rissman, Robert A; Cruchaga, Carlos; Ghetti, Bernardino; Halliday, Glenda M; Beach, Thomas G; Serrano, Geidy E; Arzberger, Thomas; Herms, Jochen; Boxer, Adam L; Honig, Lawrence S; Vonsattel, Jean P; Lopez, Oscar L; Kofler, Julia; White, Charles L 3rd; Gearing, Marla; Glass, Jonathan; Rohrer, Jonathan D; Irwin, David J; Lee, Edward B; Van Deerlin, Vivianna; Castellani, Rudolph; Mesulam, Marsel M; Tartaglia, Maria C; Finger, Elizabeth C; Troakes, Claire; Al-Sarraj, Safa; Dalgard, Clifton L; Miller, Bruce L; Seelaar, Harro; Graff-Radford, Neill R; Boeve, Bradley F; Mackenzie, Ian Ra; van Swieten, John C; Seeley, William W; Sleegers, Kristel; Dickson, Dennis W; Biernacka, Joanna M; Rademakers, Rosa

Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissues

Annexin A11 突变与体内和人体组织中的核膜功能障碍有关。

Valentina Marchica ,Luca Biasetti ,Jodi Barnard ,Shujing Li ,Nikolas Nikolaou ,Matthew P Frosch ,Diane E Lucente ,Mark Eldaief ,Andrew King ,Manolis Fanto ,Claire Troakes ,Corinne Houart ,Bradley N Smith

Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells

17q21.31拷贝数变异和单倍型分析揭示了进行性核上性麻痹风险增加以及神经元细胞基因表达变化。

Wang, Hui; Chang, Timothy S; Dombroski, Beth A; Cheng, Po-Liang; Si, Ya-Qin; Tucci, Albert; Patil, Vishakha; Valiente-Banuet, Leopoldo; Li, Chong; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Donker Kaat, Laura; Van Swieten, John C; Dopper, Elise; Ghetti, Bernardino F; Newell, Kathy L; Troakes, Claire; de Yébenes, Justo G; Rábano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Müller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G; Serrano, Geidy E; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A; Galasko, Douglas; Boxer, Adam L; Miller, Bruce L; Seeley, Willian W; Van Deerlin, Vivianna M; Lee, Edward B; White, Charles L 3rd; Morris, Huw R; de Silva, Rohan; Crary, John F; Goate, Alison M; Friedman, Jeffrey S; Compta, Yaroslau; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W; Höglinger, Günter U; Tzeng, Jung-Ying; Geschwind, Daniel H; Schellenberg, Gerard D; Lee, Wan-Ping

Alzheimer's disease brain-derived tau extracts show differential processing and transcriptional effects in human astrocytes.

阿尔茨海默病脑源性 tau 蛋白提取物在人类星形胶质细胞中表现出不同的加工和转录效应

Reid Matthew J, Salazar Melissa Leija, Troakes Claire, Lynham Steven, Srivastava Deepak P, Perez-Nievas Beatriz Gomez, Noble Wendy

Increased Incidence of Epilepsy in a Brain Bank Alzheimer's Disease Cohort and Its Association With TDP-43 Pathology

脑库阿尔茨海默病队列中癫痫发病率增加及其与TDP-43病理的关系

Federica Rocca,Jaimee Kennedy,Shamis Osman,Zita Reisz,Andrew King,Istvan Bodi,Safa Al-Sarraj,Claire Troakes

Aberrant NSUN1 activity connects m5C-RNA modification to TDP-43 neurotoxicity in ALS/FTD

NSUN1活性异常将m5C-RNA修饰与ALS/FTD中的TDP-43神经毒性联系起来

Melissa Parra-Torres ,Kumara Dissanayake ,James A Gray ,Alistair J Langlands ,Ridvan Kucuk ,Marek Gierlinski ,Claire Troakes ,Andrew King ,Leeanne McGurk