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

Clinical outcome of biomarker-guided therapies in adult neuro-oncology patients: An update from the Tübingen molecular tumor board cohort

生物标志物指导治疗在成人神经肿瘤患者中的临床结果:来自蒂宾根分子肿瘤委员会队列的最新进展

Rieger, David; Becker, Hannes; Walter, Bianca; Dörner, Lorenz; Kurz, Sylvia C; Niyazi, Maximilian; Bodensohn, Raphael; Neumann, Manuela; Rieß, Olaf; Schroeder, Christopher; Ballin, Nadja; Ott, Alexander; Roggia, Cristiana; Ossowski, Stephan; Fend, Falko; Singer, Stephan; Nahnsen, Sven; Kohlbacher, Oliver; Ernemann, Ulrike; Sundberg Malek, Holly; Schittenhelm, Jens; Bitzer, Michael; Malek, Nisar; Tatagiba, Marcos; Renovanz, Mirjam; Tabatabai, Ghazaleh

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

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

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

Persistent trade-offs balance competition and colonization across centuries

几个世纪以来,持续存在的权衡取舍在竞争和殖民之间维持着平衡。

Backman, Talia; Cui, Jiajun; Caullireau, Emma; Bleak, Ella; Bezrukov, Ilja; Girardi, Patricia; Hawks, Aubrey; Lasky, Jesse R; Latorre, Sergio M; Erberich, Joel M; Lopez, Lua; Neumann, Manuela; Perkins, Allison M; Symeonidi, Efthymia; Azadi, Parastoo; Horvath, Martin P; Muszyński, Artur; Lang, Patricia L M; Karasov, Talia L; Burbano, Hernán A

Case report: Behavioral variant FTD confounding a language variant FTD in a case of PSP-CBS

病例报告:PSP-CBS 患者中行为变异型 FTD 与语言变异型 FTD 混淆。

Jürs, Alexandra V; Kasper, Elisabeth; Neumann, Manuela; Kurth, Jens; Krause, Bernd J; Cantré, Daniel; Prudlo, Johannes

TDP-43 toxic gain of function links ALS, FTD and Alzheimer's Disease through splicing dysregulation

TDP-43毒性功能获得通过剪接失调将ALS、FTD和阿尔茨海默病联系起来

van Zuiden, Welmoed; Meimoun, Thea D; Bar, Chen; Siany, Aviad; Moshe, Lihi; Yacovzada, Nancy; Weizman, Eviatar; Neumann, Manuela; Buchman, Aron S; Wang, Yanling; Bennett, David A; Glass, Jonathan D; Trautwig, Adam N; Seyfried, Nicholas T; Cooper-Knock, Johnathan; Hornstein, Eran

MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study

在Pick病国际联盟中,MAPT H2单倍型与Pick病风险的关系:一项遗传关联研究

Valentino, Rebecca R; Scotton, William J; Roemer, Shanu F; Lashley, Tammaryn; Heckman, Michael G; Shoai, Maryam; Martinez-Carrasco, Alejandro; Tamvaka, Nicole; Walton, Ronald L; Baker, Matthew C; Macpherson, Hannah L; Real, Raquel; Soto-Beasley, Alexandra I; Mok, Kin; Revesz, Tamas; Christopher, Elizabeth A; DeTure, Michael; Seeley, William W; Lee, Edward B; Frosch, Matthew P; Molina-Porcel, Laura; Gefen, Tamar; Redding-Ochoa, Javier; Ghetti, Bernardino; Robinson, Andrew C; Kobylecki, Christopher; Rowe, James B; Beach, Thomas G; Teich, Andrew F; Keith, Julia L; Bodi, Istvan; Halliday, Glenda M; Gearing, Marla; Arzberger, Thomas; Morris, Christopher M; White, Charles L 3rd; Mechawar, Naguib; Boluda, Susana; MacKenzie, Ian R; McLean, Catriona; Cykowski, Matthew D; Wang, Shih-Hsiu J; Graff, Caroline; Nagra, Rashed M; Kovacs, Gabor G; Giaccone, Giorgio; Neumann, Manuela; Ang, Lee-Cyn; Carvalho, Agostinho; Morris, Huw R; Rademakers, Rosa; Hardy, John A; Dickson, Dennis W; Rohrer, Jonathan D; Ross, Owen A