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

Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease

罕见但重要?评估帕金森病中与肌张力障碍相关的基因变异

Lange, Lara M; Fang, Zih-Hua; Screven, Laurel; Tan, Ai Huey; Alcalay, Roy N; Amouri, Rim; Bovenzi, Roberta; Fenn, Matilda; Frost, Joshua L I; Jankovic, Joseph; Jasaityte, Simona; Jaunmuktane, Zane; Jeon, Beomseok; Sarmiento, Ignacio Juan Keller; Krüger, Rejko; Kuhlenbäumer, Gregor; Lin, Chin-Hsien; Pavelka, Lukas; Periñan, Maria Teresa; Sassi, Samia Ben; Schirinzi, Tommaso; Shin, Jung Hwan; Shulman, Joshua M; Tay, Yi Wen; Uitti, Ryan; Warner, Tom; Wszolek, Zbigniew K; Wu, Lesley; Wu, Ruey-Meei; Zeuner, Kirsten E; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolò E; Morris, Huw R; Lim, Shen-Yang; Lohmann, Katja; Klein, Christine

CI-994 is a dual modulator of class I HDACs and Wnt/β-catenin signaling for the treatment of Alzheimer's disease

CI-994 是一种双重调节剂,可同时调节 I 类 HDAC 和 Wnt/β-catenin 信号通路,用于治疗阿尔茨海默病。

Lu, Wenyan; Kawatani, Keiji; Ren, Yingxue; Nambara, Toshihiko; Jia, Lin; Jeevaratnam, Suren; Lee, Eunmi; Martinez, Paula Rodriguez; Izhar, Taha; Wang, Ni; Raulin, Ana-Caroline; Wszolek, Zbigniew K; Bu, Guojun; Kanekiyo, Takahisa; Li, Yonghe

TDP-43-mediated alternative polyadenylation is associated with a reduction in VPS35 and VPS29 expression in frontotemporal dementia

TDP-43介导的替代性多聚腺苷酸化与额颞叶痴呆中VPS35和VPS29表达的降低有关

Maheswari Jawahar, Vidhya; Zeng, Yi; Armour, Ellen M; Yue, Mei; Citrano, Kathryn; Lovchykova, Anastasiia; Reeves, Madison M; Rawlinson, Bailey; DeTure, Michael; Dunmore, Judith A; Song, Yuping; Ball, Sophie K; Wszolek, Zbigniew K; Graff-Radford, Neill R; Boeve, Bradley F; Knopman, David S; Day, Gregory S; Small, Scott A; Dickson, Dennis W; Ward, Michael E; Gendron, Tania F; Zhang, Yongjie; Prudencio, Mercedes; Gitler, Aaron D; Petrucelli, Leonard

CSF1R T567M mutation induces microglial dysfunction and synaptic impairment in patient iPSC-derived cerebral organoids of CSF1R-related disorder.

CSF1R T567M 突变导致 CSF1R 相关疾病患者的 iPSC 衍生脑类器官中小胶质细胞功能障碍和突触损伤。

Chi Li, Tu Haitao, Li Zhihong, Qiu Lifeng, Zhang Zhi-Wei, Chia Sook-Yoong, Tan Jayne Yi, Ho Ivy A W, Loh Yuin-Han, Tan Eng-King, Teng Wei, Pei Zhong, Wszolek Zbigniew K, Ng Adeline S L, Zeng Li

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

靶向血浆蛋白质组学揭示了与KIF5A相关SPG10和ALS谱系疾病相关的蛋白质

Dulski, Jarosław; Boddapati, Arun K; Risi, Barbara; Iruzubieta, Pablo; Orlacchio, Antonio; Fernández-Torrón, Roberto; Castillo-Triviño, Tamara; López de Munain, Adolfo; Vucic, Steve; Padovani, Alessandro; Kaat, Laura Donker; Barakat, Tahsin Stefan; Petrucelli, Leonard; Prudencio, Mercedes; Landers, John E; Weishaupt, Jochen H; Prokop, Andreas; Filosto, Massimiliano; Wszolek, Zbigniew K; Pant, Devesh C

Hyperorality in Frontotemporal Dementia: How Psychiatric and Neural Correlates Change During the Disease Course

额颞叶痴呆患者的过度进食:疾病进程中精神和神经相关性的变化

Morrow, Christopher B; Onyike, Chiadi; Pantelyat, Alexander; Smith, Gwenn S; Leoutsakos, Jeannie; Faria, Andreia V; Graff-Radford, Neill R; Darby, R Ryan; Ghoshal, Nupur; Staffaroni, Adam M; Rascovsky, Katya; Miyagawa, Toji; Balaji, Akshata; Tsapkini, Kyrana; Lapid, Maria I; Mendez, Mario F; Litvan, Irene; Pascual, Belen; Rojas, Julio C; Wszolek, Zbigniew K; Domoto-Reilly, Kimiko; Kornak, John; Kamath, Vidyulata

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

Development and validation of a sensitive sandwich ELISA against human PINK1.

开发和验证针对人类 PINK1 的灵敏夹心 ELISA

Baninameh Zahra, Watzlawik Jens O, Bustillos Bernardo A, Fiorino Gabriella, Yan Tingxiang, Lewicki Szymon L, Zhang Haonan, Dickson Dennis W, Siuda Joanna, Wszolek Zbigniew K, Springer Wolfdieter, Fiesel Fabienne C

The importance of longitudinal observational studies for hereditary neurodegenerative disorders

纵向观察研究对遗传性神经退行性疾病的重要性

Friedman, Joseph H; Wszolek, Zbigniew K