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

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics

由C9orf72基因六核苷酸重复序列扩增引起的肌萎缩侧索硬化症:从遗传学到治疗学

Mizielinska, Sarah; Hautbergue, Guillaume M; Gendron, Tania F; van Blitterswijk, Marka; Hardiman, Orla; Ravits, John; Isaacs, Adrian M; Rademakers, Rosa

Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes.

对具有 TDP-43 病理的 FTLD 患者进行甲基化组分析,可识别出病理亚型特有的表观遗传特征

Vicente Cristina T, Niranjan Tejasvi, Coopman Elise, Faura Júlia, Alidadiani Sara, Schrauwen Claudia, Matchett Billie J, Heeman Bavo, Van den Broeck Marleen, De Coster Wouter, Nguyen Thuy, Lau Julie S, Baheti Saurabh, de Pooter Tim, De Rijk Peter, Strazisar Mojca, Baker Matt, DeJesus-Hernandez Mariely, Finch NiCole A, Pottier Cyril, van Blitterswijk Marka, Asmann Yan, Murray Melissa E, Petrucelli Leonard, King Andrew, Troakes Claire, Al-Sarraj Safa, Rissman Robert A, Hiniker Annie, Flanagan Margaret, Evers Bret M, White Charles L 3rd, Cruchaga Carlos, Castellani Rudolph, van Rooij Jeroen G J, Mol Merel O, Seelaar Harro, van Swieten John C, Oskarsson Björn, Reichard Robert Ross, Nguyen Aivi T, Josephs Keith A, Petersen Ronald C, Ertekin-Taner Nilüfer, Boeve Bradley F, Graff-Radford Neill R, Weckhuysen Sarah, Dickson Dennis W, 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

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases

多种运动神经元疾病中超罕见基因变异的共同负担

Wu, Gang; Chen, Wenan; Wuu, Joanne; Jain, Angita; Myers, Jason; Cordts, Isabell; Rampersaud, Evadnie; Heckmann, Jeannine M; Nel, Melissa; Granit, Volkan; Statland, Jeffrey; Swenson, Andrea; Ravits, John; McMillan, Corey T; Elman, Lauren; Caress, James; Burns, Ted M; Pioro, Erik P; Trivedi, Jaya; Katz, Jonathan; Jackson, Carlayne; Maiser, Samuel; Walk, David; So, Yuen; McCauley, Jacob L; Baker, Matthew C; Taylor, J Paul; Zuchner, Stephan; Rademakers, Rosa; van Blitterswijk, Marka; Benatar, Michael

Characterizing the expression profile of 3R tau pathology in Pick's disease

表征皮克氏病中3R tau病理的表达谱

Tamvaka, Nicole; Soto-Beasley, Alexandra I; Gavrielatos, Marios; Heckman, Michael G; Ren, Yingxue; Udine, Evan; Quicksall, Zachary S; Liskey, Delaney; Castanedes-Casey, Monica; Wszolek, Zbigniew K; Boeve, Bradley F; Josephs, Keith A; Graff-Radford, Neill; van Blitterswijk, Marka; Murray, Melissa E; Roemer, Shanu F; Dickson, Dennis W; Ross, Owen A

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

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease

扩大膜联蛋白A11蛋白病在额颞叶变性和运动神经元疾病中的谱系

Ghayal, Nikhil B; Crook, Richard J; Jain, Angita; Sachdeva, Gunveen; Jiang, Peizhou; Roemer, Shanu F; Sekiya, Hiroaki; DeTure, Michael A; Baker, Matthew C; De Coster, Wouter; Oskarsson, Björn; Josephs, Keith A; Rademakers, Rosa; van Blitterswijk, Marka M; Dickson, Dennis W

Upper motor neuron-predominant motor neuron disease presenting as atypical parkinsonism: A clinicopathological study

以非典型帕金森综合征为表现的上运动神经元疾病:一项临床病理学研究

Murakami, Aya; Koga, Shunsuke; Fujioka, Shinsuke; White, Adrianna E; Bieniek, Kevin F; Sekiya, Hiroaki; DeJesus-Hernandez, Mariely; Finch, NiCole A; van Blitterswijk, Marka; Nakamura, Masataka; Tsuboi, Yoshio; Murray, Melissa E; Wszolek, Zbigniew K; Dickson, Dennis W

Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans

对先前与欧洲人ALS相关的结构变异的分析凸显了非洲人的基因组结构差异

Monnakgotla, Nomakhosazana R; Mahungu, Amokelani C; Heckmann, Jeannine M; Botha, Gerrit; Mulder, Nicola J; Wu, Gang; Rampersaud, Evadnie; Myers, Jason; Van Blitterswijk, Marka; Rademakers, Rosa; Taylor, J Paul; Wuu, Joanne; Benatar, Michael; Nel, Melissa