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

Distinct TAF15 amyloid filament folds define multiple subtypes of FTLD-TAF15

不同的TAF15淀粉样蛋白丝折叠定义了FTLD-TAF15的多种亚型

Tetter, Stephan; Varghese, Nikhil R; Murzin, Alexey G; De Coster, Wouter; Van den Broeck, Marleen; Roeber, Sigrun; Joseph, Jeffrey T; Newell, Kathy; Castellani, Rudolf; Das, Sumit; Ang, Lee-Cyn; Synofzik, Matthis; Herms, Jochen; Rademakers, Rosa; Ghetti, Bernardino; Lashley, Tammaryn; Mackenzie, Ian R A; Neumann, Manuela; Ryskeldi-Falcon, Benjamin

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

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

Brain aging rejuvenation factors in adults with genetic and sporadic neurodegenerative disease

遗传性和散发性神经退行性疾病成人大脑衰老恢复因素

Casaletto, Kaitlin B; Saloner, Rowan; Kornak, John; Staffaroni, Adam M; Villeda, Saul; Paolillo, Emily; VandeBunte, Anna M; Cadwallader, Claire J; Lario Lago, Argentina; Webb, Julia; Chen, Coty; Rascovsky, Katya; Miyagawa, Toji; Ramos, Eliana Marisa; Masdeu, Joseph C; Pantelyat, Alexander; Tartaglia, Maria Carmela; Bozoki, Andrea; Pressman, Peter S; Rademakers, Rosa; Kremers, Walter; Darby, Ryan; Younes, Kyan; Pascual, Belen; Ghoshal, Nupur; Lapid, Maria; Mackenzie, Ian R A; Li, Jingyao; Hsiung, Ging-Yuek Robin; Hall, Jacob N; Yutsis, Maya V; Litvan, Irene; Henderson, Victor W; Sivasankaran, Rajeev; Worringer, Katie; Domoto-Reilly, Kimiko; Synder, Allison; Loureiro, Joseph; Kramer, Joel H; Heuer, Hilary; Forsberg, Leah K; Rosen, Howard J; Boeve, Bradley; Rojas, Julio C; Boxer, Adam L

Biomarker-Based Approach to α-Synucleinopathies: Lessons from Neuropathology

基于生物标志物的α-突触核蛋白病治疗方法:来自神经病理学的启示

Kovacs, Gabor G; Grinberg, Lea T; Halliday, Glenda; Alafuzoff, Irina; Dugger, Brittany N; Murayama, Shigeo; Forrest, Shelley L; Martinez-Valbuena, Ivan; Tanaka, Hidetomo; Kon, Tomoya; Yoshida, Koji; Jaunmuktane, Zane; Spina, Salvatore; Nelson, Peter T; Gentleman, Steve; Alegre-Abarrategui, Javier; Serrano, Geidy E; Paes, Vitor Ribeiro; Takao, Masaki; Wakabayashi, Koichi; Uchihara, Toshiki; Yoshida, Mari; Saito, Yuko; Kofler, Julia; Rodriguez, Roberta Diehl; Gelpi, Ellen; Attems, Johannes; Crary, John F; Seeley, William W; Duda, John E; Keene, C Dirk; Woulfe, John; Munoz, David; Smith, Colin; Lee, Edward B; Neumann, Manuela; White, Charles L 3rd; McKee, Ann C; Thal, Dietmar R; Jellinger, Kurt; Ghetti, Bernardino; Mackenzie, Ian R A; Dickson, Dennis W; Beach, Thomas G

White-matter abnormalities in presymptomatic GRN and C9orf72 mutation carriers

GRN 和 C9orf72 突变携带者无症状期白质异常

Lee, Hyunwoo; Mackenzie, Ian R A; Beg, Mirza Faisal; Popuri, Karteek; Rademakers, Rosa; Wittenberg, Dana; Hsiung, Ging-Yuek Robin

Brain volumetric deficits in MAPT mutation carriers: a multisite study

MAPT基因突变携带者脑容量不足:一项多中心研究

Chu, Stephanie A; Flagan, Taru M; Staffaroni, Adam M; Jiskoot, Lize C; Deng, Jersey; Spina, Salvatore; Zhang, Liwen; Sturm, Virginia E; Yokoyama, Jennifer S; Seeley, William W; Papma, Janne M; Geschwind, Dan H; Rosen, Howard J; Boeve, Bradley F; Boxer, Adam L; Heuer, Hilary W; Forsberg, Leah K; Brushaber, Danielle E; Grossman, Murray; Coppola, Giovanni; Dickerson, Bradford C; Bordelon, Yvette M; Faber, Kelley; Feldman, Howard H; Fields, Julie A; Fong, Jamie C; Foroud, Tatiana; Gavrilova, Ralitza H; Ghoshal, Nupur; Graff-Radford, Neill R; Hsiung, Ging-Yuek Robin; Huey, Edward D; Irwin, David J; Kantarci, Kejal; Kaufer, Daniel I; Karydas, Anna M; Knopman, David S; Kornak, John; Kramer, Joel H; Kukull, Walter A; Lapid, Maria I; Litvan, Irene; Mackenzie, Ian R A; Mendez, Mario F; Miller, Bruce L; Onyike, Chiadi U; Pantelyat, Alexander Y; Rademakers, Rosa; Marisa Ramos, Eliana; Roberson, Erik D; Carmela Tartaglia, Maria; Tatton, Nadine A; Toga, Arthur W; Vetor, Ashley; Weintraub, Sandra; Wong, Bonnie; Wszolek, Zbigniew K; Van Swieten, John C; Lee, Suzee E

FDG-PET in presymptomatic C9orf72 mutation carriers

FDG-PET 在无症状 C9orf72 突变携带者中的应用

Popuri, Karteek; Beg, Mirza Faisal; Lee, Hyunwoo; Balachandar, Rakesh; Wang, Lei; Sossi, Vesna; Jacova, Claudia; Baker, Matt; Shahinfard, Elham; Rademakers, Rosa; Mackenzie, Ian R A; Hsiung, Ging-Yuek R

Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers

追踪无症状和有症状MAPT基因突变携带者的白质退化情况

Chen, Qin; Boeve, Bradley F; Schwarz, Christopher G; Reid, Robert; Tosakulwong, Nirubol; Lesnick, Timothy G; Bove, Jessica; Brannelly, Patrick; Brushaber, Danielle; Coppola, Giovanni; Dheel, Christina; Dickerson, Bradford C; Dickinson, Susan; Faber, Kelley; Fields, Julie; Fong, Jamie; Foroud, Tatiana; Forsberg, Leah; Gavrilova, Ralitza H; Gearhart, Debra; Ghoshal, Nupur; Goldman, Jill; Graff-Radford, Jonathan; Graff-Radford, Neill R; Grossman, Murray; Haley, Dana; Heuer, Hilary W; Hsiung, Ging-Yuek R; Huey, Edward; Irwin, David J; Jack, Clifford R; Jones, David T; Jones, Lynne; Karydas, Anna M; Knopman, David S; Kornak, John; Kramer, Joel; Kremers, Walter; Kukull, Walter A; Lapid, Maria; Lucente, Diane; Lungu, Codrin; Mackenzie, Ian R A; Manoochehri, Masood; McGinnis, Scott; Miller, Bruce L; Pearlman, Rodney; Petrucelli, Leonard; Potter, Madeline; Rademakers, Rosa; Ramos, Eliana M; Rankin, Katherine P; Rascovsky, Katya; Sengdy, Pheth; Shaw, Leslie; Syrjanen, Jeremy; Tatton, Nadine; Taylor, Joanne; Toga, Arthur W; Trojanowski, John; Weintraub, Sandra; Wong, Bonnie; Boxer, Adam L; Rosen, Howie; Wszolek, Zbigniew; Kantarci, Kejal