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

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

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

Epilepsy-associated death in the Southwestern Ontario: A clinicopathological correlation study

安大略省西南部癫痫相关死亡:一项临床病理相关性研究

Zhang, Qi; Suller-Marti, Ana; Ding, Jane Jian; Deng, Gansen; He, Wenqing; Burneo, Jorge G; Hammond, Robert R; Ang, Lee-Cyn

Creating the Pick's disease International Consortium: Association study of MAPT H2 haplotype with risk of Pick's disease

创建皮克氏病国际联盟:MAPT H2 单倍型与皮克氏病风险的关联研究

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; Warner, Thomas T; Jaunmuktane, Zane; Boeve, Bradley F; Christopher, Elizabeth A; DeTure, Michael; Duara, Ranjan; Graff-Radford, Neill R; Josephs, Keith A; Knopman, David S; Koga, Shunsuke; Murray, Melissa E; Lyons, Kelly E; Pahwa, Rajesh; Parisi, Joseph E; Petersen, Ronald C; Whitwell, Jennifer; Grinberg, Lea T; Miller, Bruce; Schlereth, Athena; Seeley, William W; Spina, Salvatore; Grossman, Murray; Irwin, David J; Lee, Edward B; Suh, EunRan; Trojanowski, John Q; Van Deerlin, Vivianna M; Wolk, David A; Connors, Theresa R; Dooley, Patrick M; Frosch, Matthew P; Oakley, Derek H; Aldecoa, Iban; Balasa, Mircea; Gelpi, Ellen; Borrego-Écija, Sergi; de Eugenio Huélamo, Rosa Maria; Gascon-Bayarri, Jordi; Sánchez-Valle, Raquel; Sanz-Cartagena, Pilar; Piñol-Ripoll, Gerard; Molina-Porcel, Laura; Bigio, Eileen H; Flanagan, Margaret E; Gefen, Tamar; Rogalski, Emily J; Weintraub, Sandra; Redding-Ochoa, Javier; Chang, Koping; Troncoso, Juan C; Prokop, Stefan; Newell, Kathy L; Ghetti, Bernardino; Jones, Matthew; Richardson, Anna; Robinson, Andrew C; Roncaroli, Federico; Snowden, Julie; Allinson, Kieren; Green, Oliver; Rowe, James B; Singh, Poonam; Beach, Thomas G; Serrano, Geidy E; Flowers, Xena E; Goldman, James E; Heaps, Allison C; Leskinen, Sandra P; Teich, Andrew F; Black, Sandra E; Keith, Julia L; Masellis, Mario; Bodi, Istvan; King, Andrew; Sarraj, Safa-Al; Troakes, Claire; Halliday, Glenda M; Hodges, John R; Kril, Jillian J; Kwok, John B; Piguet, Olivier; Gearing, Marla; Arzberger, Thomas; Roeber, Sigrun; Attems, Johannes; Morris, Christopher M; Thomas, Alan J; Evers, Bret M; White, Charles L; Mechawar, Naguib; Sieben, Anne A; Cras, Patrick P; De Vil, Bart B; De Deyn, Peter Paul P P; Duyckaerts, Charles; Le Ber, Isabelle; Seihean, Danielle; Turbant-Leclere, Sabrina; MacKenzie, Ian R; McLean, Catriona; Cykowski, Matthew D; Ervin, John F; Wang, Shih-Hsiu J; Graff, Caroline; Nennesmo, Inger; Nagra, Rashed M; Riehl, James; Kovacs, Gabor G; Giaccone, Giorgio; Nacmias, Benedetta; Neumann, Manuela; Ang, Lee-Cyn; Finger, Elizabeth C; Blauwendraat, Cornelis; Nalls, Mike A; Singleton, Andrew B; Vitale, Dan; Cunha, Cristina; Carvalho, Agostinho; Wszolek, Zbigniew K; Morris, Huw R; Rademakers, Rosa; Hardy, John A; Dickson, Dennis W; Rohrer, Jonathan D; Ross, Owen A

Distinct subcortical tau burden: The tau pallido-claustral ratio separates progressive supranuclear palsy and corticobasal degeneration

皮质下tau蛋白负荷差异显著:苍白球-屏状核tau蛋白比值可区分进行性核上性麻痹和皮质基底节变性。

Zhao, Chelsey ShengQi; Yan, Lei; He, Wenqing; Ang, Lee Cyn; Zhang, Qi

Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype

有证据表明,在患有 LMNA 相关脂肪营养不良和肌萎缩侧索硬化症的患者中,三种基因变异之间存在协同作用,从而导致显著的核表型

Kathryn Volkening, Sali M K Farhan, Jessica Kao, Cheryl Leystra-Lantz, Lee Cyn Ang, Adam McIntyre, Jian Wang, Robert A Hegele, Michael J Strong

Neuropathology of Perry Syndrome: Evidence of Medullary and Hypothalamic Involvement

佩里综合征的神经病理学:延髓和下丘脑受累的证据

Kim, David Dongkyung; Alghefari, Huda; Jenkins, Mary; Ang, Lee-Cyn; Pasternak, Stephen H

α-tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy

婴儿线状肌病中的α-原肌球蛋白基因(TPM3)突变

Almobarak, Sulaiman; Hu, Jonathan; Langdon, Kristopher D; Ang, Lee-Cyn; Campbell, Craig