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

Increased TMEM106B levels lead to lysosomal dysfunction which affects synaptic signaling and neuronal health.

TMEM106B 水平升高会导致溶酶体功能障碍,从而影响突触信号传导和神经元健康

Perneel Jolien, Lastra Osua Miranda, Alidadiani Sara, Peeters Nele, De Witte Linus, Heeman Bavo, Manzella Simona, De Rycke Riet, Brooks Mieu, Perkerson Ralph B, Calus Elke, De Coster Wouter, Neumann Manuela, Mackenzie Ian R A, Van Dam Debby, Asselbergh Bob, Ellender Tommas, Zhou Xiaolai, Rademakers Rosa

Loss of Tmem106b leads to cerebellum Purkinje cell death and motor deficits

Tmem106b的缺失会导致小脑浦肯野细胞死亡和运动功能障碍。

Rademakers, Rosa; Nicholson, Alexandra M; Ren, Yingxue; Koga, Shunsuke; Nguyen, Hung Phuoc; Brooks, Mieu; Qiao, Wenhui; Quicksall, Zachary S; Matchett, Billie; Perkerson, Ralph B; Kurti, Aishe; Castanedes-Casey, Monica; Phillips, Virginia; Librero, Ariston L; Fernandez De Castro, Cristhoper H; Baker, Matthew C; Roemer, Shanu F; Murray, Melissa E; Asmann, Yan; Fryer, John D; Bu, Guojun; Dickson, Dennis W; Zhou, Xiaolai

Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains

病理学、影像学和遗传学特征支持非FTLD脑组织中存在不同的TDP-43类型。

Josephs, Keith A; Murray, Melissa E; Tosakulwong, Nirubol; Weigand, Stephen D; Serie, Amanda M; Perkerson, Ralph B; Matchett, Billie J; Jack, Clifford R Jr; Knopman, David S; Petersen, Ronald C; Parisi, Joseph E; Petrucelli, Leonard; Baker, Matthew; Rademakers, Rosa; Whitwell, Jennifer L; Dickson, Dennis W

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis

TBK1 基因突变家族中原发性进行性失语症和原发性侧索硬化症的临床病理相关性研究

Hirsch-Reinshagen, Veronica; Alfaify, Omar A; Hsiung, Ging-Yuek R; Pottier, Cyril; Baker, Matt; Perkerson, Ralph B 3rd; Rademakers, Rosa; Briemberg, Hanna; Foti, Dean J; Mackenzie, Ian R

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

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

C9orf72相关ALS和散发性ALS的脑转录组谱存在显著差异。

Prudencio, Mercedes; Belzil, Veronique V; Batra, Ranjan; Ross, Christian A; Gendron, Tania F; Pregent, Luc J; Murray, Melissa E; Overstreet, Karen K; Piazza-Johnston, Amelia E; Desaro, Pamela; Bieniek, Kevin F; DeTure, Michael; Lee, Wing C; Biendarra, Sherri M; Davis, Mary D; Baker, Matthew C; Perkerson, Ralph B; van Blitterswijk, Marka; Stetler, Caroline T; Rademakers, Rosa; Link, Christopher D; Dickson, Dennis W; Boylan, Kevin B; Li, Hu; Petrucelli, Leonard

Clinical and neuroimaging biomarkers of amyloid-negative logopenic primary progressive aphasia

淀粉样蛋白阴性语词缺失型原发性进行性失语症的临床和神经影像学生物标志物

Whitwell, Jennifer L; Duffy, Joseph R; Strand, Edythe A; Machulda, Mary M; Senjem, Matthew L; Schwarz, Christopher G; Reid, Robert; Baker, Matthew C; Perkerson, Ralph B; Lowe, Val J; Rademakers, Rosa; Jack, Clifford R Jr; Josephs, Keith A