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

Cysteines are critical determinants of spontaneous and seeded tau aggregation in cells

半胱氨酸是细胞内自发性和种子诱导的tau蛋白聚集的关键决定因素。

Jayan, Parvathy; Rastogi, Simran; Bommareddy, Vaibhav; Dashnaw, Chad M; Vaquer-Alicea, Jaime; Nguyen, Binh An; Saelices, Lorena; Shahmoradian, Sarah; White, Charles L 3rd; Diamond, Marc I; Joachimiak, Lukasz A

VCP regulates early tau seed amplification via specific cofactors

VCP通过特定辅助因子调控早期tau种子扩增

Batra, Sushobhna; Vaquer-Alicea, Jaime; Valdez, Clarissa; Taylor, Skyler P; Manon, Victor A; Vega, Anthony R; Kashmer, Omar M; Kolay, Sourav; Lemoff, Andrew; Cairns, Nigel J; White, Charles L 3rd; Diamond, Marc I

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

Functional classification of tauopathy strains reveals the role of protofilament core residues

tau蛋白病菌株的功能分类揭示了原丝核心残基的作用

Vaquer-Alicea, Jaime; Manon, Victor A; Bommareddy, Vaibhav; Kunach, Peter; Gupta, Ankit; Monistrol, Jim; Perez, Valerie A; Tran, Hung Tri; Saez-Calveras, Nil; Du, Siling; Batra, Sushobhna; Stoddard, Daniel; White, Charles L 3rd; Joachimiak, Lukasz A; Shahmoradian, Sarah H; Diamond, Marc I

Cognitive and neuropsychological trajectories in patients with mixed neurodegenerative pathologies

混合型神经退行性疾病患者的认知和神经心理轨迹

Almeida, Francisco C; Marx, Gabriel A; Rohde, Susan K; Gonzales, Mitzi M; Maldonado-Díaz, Carolina; Hiya, Satomi; Clare, Kevin; Samanamud, Jorge; Slocum, Cheyanne C; Kauffman, Justin; Koenigsberg, Daniel G; Flores-Almazan, Victoria; Crary, John F; Farrell, Kurt; White, Charles L 3rd; Daoud, Elena V; Walker, Jamie M; Oliveira, Tiago Gil; Richardson, Timothy E

Essential tremor with tau pathology features seeds indistinguishable in conformation from Alzheimer's disease and primary age-related tauopathy

伴有tau蛋白病理的特发性震颤的特征性种子在形态上与阿尔茨海默病和原发性年龄相关性tau蛋白病无法区分。

Saez-Calveras, Nil; Vaquer-Alicea, Jaime; White, Charles L 3rd; Tak, Yogesh; Cosentino, Stephanie; Faust, Phyllis L; Louis, Elan D; Diamond, Marc I

Brain transcriptomics highlight abundant gene expression and splicing alterations in non-neuronal cells in aFTLD-U

脑转录组学研究揭示了aFTLD-U患者非神经元细胞中大量基因表达和剪接改变。

Alidadiani, Sara; Faura, Júlia; Wynants, Sarah; Peeters, Nele; Van den Broeck, Marleen; De Witte, Linus; Policarpo, Rafaela; Cheung, Simon; Pottier, Cyril; Ghayal, Nikhil B; Mol, Merel O; van Blitterswijk, Marka; Udine, Evan; DeJesus-Hernandez, Mariely; Baker, Matthew; Finch, NiCole A; Asmann, Yan W; van Rooij, Jeroen G J; Nguyen, Aivi T; Ross Reichard, R; Nana, Alissa L; Lopez, Oscar L; Boxer, Adam L; Rosen, Howard J; Spina, Salvatore; Herms, Jochen; Josephs, Keith A; Petersen, Ronald C; Rissman, Robert A; Hiniker, Annie; Ang, Lee-Cyn; Grinberg, Lea T; Halliday, Glenda M; Boeve, Bradley F; Graff-Radford, Neill R; Seelaar, Harro; Neumann, Manuela; Kofler, Julia; White, Charles L 3rd; Seeley, William W; van Swieten, John C; Dickson, Dennis W; Mackenzie, Ian R A; De Coster, Wouter; Rademakers, Rosa

Primary age-related tauopathy

原发性年龄相关性tau蛋白病

Richardson, Timothy E; Walker, Jamie M; Farrell, Kurt; Oliveira, Tiago Gil; White, Charles L 3rd; Crary, John F