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

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

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

Upper motor neuron-predominant motor neuron disease presenting as atypical parkinsonism: A clinicopathological study

以非典型帕金森综合征为表现的上运动神经元疾病:一项临床病理学研究

Murakami, Aya; Koga, Shunsuke; Fujioka, Shinsuke; White, Adrianna E; Bieniek, Kevin F; Sekiya, Hiroaki; DeJesus-Hernandez, Mariely; Finch, NiCole A; van Blitterswijk, Marka; Nakamura, Masataka; Tsuboi, Yoshio; Murray, Melissa E; Wszolek, Zbigniew K; Dickson, Dennis W

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations

TDP-43 A 型额颞叶痴呆患者(伴或不伴 GRN 突变)的共同脑转录组特征

Pottier, Cyril; Mateiu, Ligia; Baker, Matthew C; DeJesus-Hernandez, Mariely; Teixeira Vicente, Cristina; Finch, NiCole A; Tian, Shulan; van Blitterswijk, Marka; Murray, Melissa E; Ren, Yingxue; Petrucelli, Leonard; Oskarsson, Björn; Biernacka, Joanna M; Graff-Radford, Neill R; Boeve, Bradley F; Petersen, Ronald C; Josephs, Keith A; Asmann, Yan W; Dickson, Dennis W; Rademakers, Rosa

Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases

长读长靶向测序揭示了C9orf72相关疾病的临床病理关联

DeJesus-Hernandez, Mariely; Aleff, Ross A; Jackson, Jazmyne L; Finch, NiCole A; Baker, Matthew C; Gendron, Tania F; Murray, Melissa E; McLaughlin, Ian J; Harting, John R; Graff-Radford, Neill R; Oskarsson, Björn; Knopman, David S; Josephs, Keith A; Boeve, Bradley F; Petersen, Ronald C; Fryer, John D; Petrucelli, Leonard; Dickson, Dennis W; Rademakers, Rosa; Ebbert, Mark T W; Wieben, Eric D; van Blitterswijk, Marka

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

广泛的转录组学研究强调了囊泡运输在C9orf72扩增携带者中的重要性

Dickson, Dennis W; Baker, Matthew C; Jackson, Jazmyne L; DeJesus-Hernandez, Mariely; Finch, NiCole A; Tian, Shulan; Heckman, Michael G; Pottier, Cyril; Gendron, Tania F; Murray, Melissa E; Ren, Yingxue; Reddy, Joseph S; Graff-Radford, Neill R; Boeve, Bradley F; Petersen, Ronald C; Knopman, David S; Josephs, Keith A; Petrucelli, Leonard; Oskarsson, Björn; Sheppard, John W; Asmann, Yan W; Rademakers, Rosa; van Blitterswijk, Marka

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

额颞叶变性及GRN基因突变患者疾病风险和发病年龄的潜在遗传修饰因子:一项全基因组关联研究

Pottier, Cyril; Zhou, Xiaolai; Perkerson, Ralph B 3rd; Baker, Matt; Jenkins, Gregory D; Serie, Daniel J; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; López de Munain, Adolfo; Zulaica, Miren; Moreno, Fermin; Le Ber, Isabelle; Pasquier, Florence; Hannequin, Didier; Sánchez-Valle, Raquel; Antonell, Anna; Lladó, Albert; Parsons, Tammee M; Finch, NiCole A; Finger, Elizabeth C; Lippa, Carol F; Huey, Edward D; Neumann, Manuela; Heutink, Peter; Synofzik, Matthis; Wilke, Carlo; Rissman, Robert A; Slawek, Jaroslaw; Sitek, Emilia; Johannsen, Peter; Nielsen, Jørgen E; Ren, Yingxue; van Blitterswijk, Marka; DeJesus-Hernandez, Mariely; Christopher, Elizabeth; Murray, Melissa E; Bieniek, Kevin F; Evers, Bret M; Ferrari, Camilla; Rollinson, Sara; Richardson, Anna; Scarpini, Elio; Fumagalli, Giorgio G; Padovani, Alessandro; Hardy, John; Momeni, Parastoo; Ferrari, Raffaele; Frangipane, Francesca; Maletta, Raffaele; Anfossi, Maria; Gallo, Maura; Petrucelli, Leonard; Suh, EunRan; Lopez, Oscar L; Wong, Tsz H; van Rooij, Jeroen G J; Seelaar, Harro; Mead, Simon; Caselli, Richard J; Reiman, Eric M; Noel Sabbagh, Marwan; Kjolby, Mads; Nykjaer, Anders; Karydas, Anna M; Boxer, Adam L; Grinberg, Lea T; Grafman, Jordan; Spina, Salvatore; Oblak, Adrian; Mesulam, M-Marsel; Weintraub, Sandra; Geula, Changiz; Hodges, John R; Piguet, Olivier; Brooks, William S; Irwin, David J; Trojanowski, John Q; Lee, Edward B; Josephs, Keith A; Parisi, Joseph E; Ertekin-Taner, Nilüfer; Knopman, David S; Nacmias, Benedetta; Piaceri, Irene; Bagnoli, Silvia; Sorbi, Sandro; Gearing, Marla; Glass, Jonathan; Beach, Thomas G; Black, Sandra E; Masellis, Mario; Rogaeva, Ekaterina; Vonsattel, Jean-Paul; Honig, Lawrence S; Kofler, Julia; Bruni, Amalia C; Snowden, Julie; Mann, David; Pickering-Brown, Stuart; Diehl-Schmid, Janine; Winkelmann, Juliane; Galimberti, Daniela; Graff, Caroline; Öijerstedt, Linn; Troakes, Claire; Al-Sarraj, Safa; Cruchaga, Carlos; Cairns, Nigel J; Rohrer, Jonathan D; Halliday, Glenda M; Kwok, John B; van Swieten, John C; White, Charles L 3rd; Ghetti, Bernardino; Murell, Jill R; Mackenzie, Ian R A; Hsiung, Ging-Yuek R; Borroni, Barbara; Rossi, Giacomina; Tagliavini, Fabrizio; Wszolek, Zbigniew K; Petersen, Ronald C; Bigio, Eileen H; Grossman, Murray; Van Deerlin, Vivianna M; Seeley, William W; Miller, Bruce L; Graff-Radford, Neill R; Boeve, Bradley F; Dickson, Dennis W; Biernacka, Joanna M; Rademakers, Rosa

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

进行性核上性麻痹症全基因组关联研究的重复实验发现SLCO1A2和DUSP10是新的易感基因位点

Sanchez-Contreras, Monica Y; Kouri, Naomi; Cook, Casey N; Serie, Daniel J; Heckman, Michael G; Finch, NiCole A; Caselli, Richard J; Uitti, Ryan J; Wszolek, Zbigniew K; Graff-Radford, Neill; Petrucelli, Leonard; Wang, Li-San; Schellenberg, Gerard D; Dickson, Dennis W; Rademakers, Rosa; Ross, Owen A

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

对一大群C9ORF72扩增携带者进行RNA病灶的深入临床病理学检查

DeJesus-Hernandez, Mariely; Finch, NiCole A; Wang, Xue; Gendron, Tania F; Bieniek, Kevin F; Heckman, Michael G; Vasilevich, Aliaksei; Murray, Melissa E; Rousseau, Linda; Weesner, Rachael; Lucido, Anthony; Parsons, Meeia; Chew, Jeannie; Josephs, Keith A; Parisi, Joseph E; Knopman, David S; Petersen, Ronald C; Boeve, Bradley F; Graff-Radford, Neill R; de Boer, Jan; Asmann, Yan W; Petrucelli, Leonard; Boylan, Kevin B; Dickson, Dennis W; van Blitterswijk, Marka; Rademakers, Rosa

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome

一种新的GRN基因突变表现为失语性痴呆,并最终发展为皮质基底节综合征。

Botha, Hugo; Finch, NiCole A; Gavrilova, Ralitza H; Machulda, Mary M; Fields, Julie A; Lowe, Val J; Petersen, Ronald C; Jack, Clifford R Jr; Dheel, Christina M; Gearhart, Debra J; Knopman, David S; Rademakers, Rosa; Boeve, Bradley F