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

Accuracy of clinical diagnosis in neurodegenerative diseases - a study of 455 autopsy cases

神经退行性疾病临床诊断的准确性——一项基于455例尸检病例的研究

Vöglein, Jonathan; Arzberger, Thomas; Ebner, Irena; Herms, Jochen; Roeber, Sigrun; Ruf, Viktoria; Danek, Adrian; Giese, Armin; Höglinger, Günter U; Levin, Johannes

Clinical Predictors of Intracranial Pathology in Emergency Department Patients with Non-traumatic Headache and No Neurological Deficits: Prospective Study

急诊科非创伤性头痛且无神经功能缺损患者颅内病变的临床预测因素:前瞻性研究

Zhang, Lei; Jiang, Yankai; Zhu, Jie; Liang, Huazheng; He, Xiangyang; Qian, Jiahong; Lin, Hai; Tao, Yubo; Zhu, Keqing; Song, Xiaoxuan; Vecchi, Teodoro De; Widmann, Jeannine; Fierli, Federico; Ruf, Viktoria; Tang, Qilin; Arzberger, Thomas; Roeber, Sigrun; Köglsperger, Thomas; Windl, Otto; Haass, Christian; Winkelmann, Juliane; Herms, Jochen; Strübing, Felix; Serinken, Mustafa; Eken, Cenker; Güngör, Faruk; Akdağ, Ömer; Citisli, Veli

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

Prion-induced ferroptosis is facilitated by RAC3.

RAC3 促进朊病毒诱导的铁死亡

Peng Hao, Pfeiffer Susanne, Varynskyi Borys, Qiu Marina, Srinark Chanikarn, Jin Xiang, Zhang Xin, Williams Katie, Groveman Bradley R, Foliaki Simote T, Race Brent, Thomas Tina, Chen Chengxuan, Müller Constanze, Kovács Krisztina, Arzberger Thomas, Momma Stefan, Haigh Cathryn L, Schick Joel A

Correction of dysregulated lipid metabolism normalizes gene expression in oligodendrocytes and prolongs lifespan in female poly-GA C9orf72 mice.

纠正脂质代谢紊乱可使少突胶质细胞中的基因表达正常化,并延长雌性 poly-GA C9orf72 小鼠的寿命

Rezaei Ali, Kocsis-Jutka Virág, Gunes Zeynep I, Zeng Qing, Kislinger Georg, Bauernschmitt Franz, Isilgan Huseyin Berkcan, Parisi Laura R, Kaya Tuğberk, Franzenburg Sören, Koppenbrink Jonas, Knogler Julia, Arzberger Thomas, Farny Daniel, Nuscher Brigitte, Katona Eszter, Dhingra Ashutosh, Yang Chao, Gouna Garyfallia, LaClair Katherine D, Janjic Aleksandar, Enard Wolfgang, Zhou Qihui, Hagan Nellwyn, Ofengeim Dimitry, Beltrán Eduardo, Gokce Ozgun, Simons Mikael, Liebscher Sabine, Edbauer Dieter

Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells

17q21.31拷贝数变异和单倍型分析揭示了进行性核上性麻痹风险增加以及神经元细胞基因表达变化。

Wang, Hui; Chang, Timothy S; Dombroski, Beth A; Cheng, Po-Liang; Si, Ya-Qin; Tucci, Albert; Patil, Vishakha; Valiente-Banuet, Leopoldo; Li, Chong; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Donker Kaat, Laura; Van Swieten, John C; Dopper, Elise; Ghetti, Bernardino F; Newell, Kathy L; Troakes, Claire; de Yébenes, Justo G; Rábano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Müller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G; Serrano, Geidy E; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A; Galasko, Douglas; Boxer, Adam L; Miller, Bruce L; Seeley, Willian W; Van Deerlin, Vivianna M; Lee, Edward B; White, Charles L 3rd; Morris, Huw R; de Silva, Rohan; Crary, John F; Goate, Alison M; Friedman, Jeffrey S; Compta, Yaroslau; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W; Höglinger, Günter U; Tzeng, Jung-Ying; Geschwind, Daniel H; Schellenberg, Gerard D; Lee, Wan-Ping

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

Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

全基因组测序分析揭示了与进行性核上性麻痹相关的新的易感基因位点和结构变异

Wang, Hui; Chang, Timothy S; Dombroski, Beth A; Cheng, Po-Liang; Patil, Vishakha; Valiente-Banuet, Leopoldo; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Kaat, Laura Donker; Van Swieten, John C; Dopper, Elise; Ghetti, Bernardino F; Newell, Kathy L; Troakes, Claire; de Yébenes, Justo G; Rábano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Müller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G; Serrano, Geidy E; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A; Galasko, Douglas; Boxer, Adam L; Miller, Bruce L; Seeley, Willian W; Van Deerlin, Vivanna M; Lee, Edward B; White, Charles L 3rd; Morris, Huw; de Silva, Rohan; Crary, John F; Goate, Alison M; Friedman, Jeffrey S; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W; Höglinger, Günter U; Schellenberg, Gerard D; Geschwind, Daniel H; Lee, Wan-Ping

Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

更正:全基因组测序分析揭示了与进行性核上性麻痹相关的新的易感基因位点和结构变异

Wang, Hui; Chang, Timothy S; Dombroski, Beth A; Cheng, Po-Liang; Patil, Vishakha; Valiente-Banuet, Leopoldo; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Kaat, Laura Donker; Van Swieten, John C; Dopper, Elise; Ghetti, Bernardino F; Newell, Kathy L; Troakes, Claire; de Yébenes, Justo G; Rábano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Müller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G; Serrano, Geidy E; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A; Galasko, Douglas; Boxer, Adam L; Miller, Bruce L; Seeley, Willian W; Van Deerlin, Vivanna M; Lee, Edward B; White, Charles L 3rd; Morris, Huw; de Silva, Rohan; Crary, John F; Goate, Alison M; Friedman, Jeffrey S; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W; Höglinger, Günter U; Schellenberg, Gerard D; Geschwind, Daniel H; Lee, Wan-Ping