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

Adult presentation of a PLAGL2-amplified neuroepithelial tumor mimicking glioblastoma: broadening the spectrum of a proposed entity

成人期PLAGL2扩增型神经上皮肿瘤的临床表现酷似胶质母细胞瘤:拓展了该疾病实体的范畴。

Reisz, Zita; Agarwal, Nikhil; Anagnostou, Evangelos; Chowdhury, Yasir A; Eggleton, Kelly; Ellmers, Rebecca; Laxton, Ross; Limbachia, Chirag; Lam, Simon; Chia, Kazumi; Lavrador, Jose Pedro; Ashkan, Keyoumars; Al-Sarraj, Safa; Bodi, Istvan

Characterization of patient-derived site-specific in vivo models of pediatric-type diffuse high-grade glioma using magnetic resonance imaging

利用磁共振成像技术对儿童型弥漫性高级别胶质瘤的患者来源的部位特异性体内模型进行表征

Boult, Jessica K R; Carvalho, Diana M; Kessler, Ketty; Molinari, Valeria; Mackay, Alan; Grabovska, Yura; Fofana, Mariama; Taylor, Kathryn R; Bjerke, Lynn; Fernandez, Elisabet; Pereira, Rita; Clarke, Matthew; Temelso, Sara; Burford, Anna; Sejdiu, Drenusha; Carcaboso, Angel M; Cockle, Julia V; Carceller, Fernando; Marshall, Lynley V; Vaidya, Sucheta J; Bridges, Leslie R; Singh, Navneet; Stapleton, Simon; Hettige, Samantha; Al-Sarraj, Safa; Reisz, Zita; Zebian, Bassel; Bleil, Cristina; Grundy, Richard G; Gray, Juliet C; Hargrave, Darren; Wilson, Shaun; Picton, Susan; Adamski, Jenny K; Hassall, Timothy E G; Mastronuzzi, Angela; Carai, Andrea; Benjamin, Philip; Colafati, G Stefania; Vinci, Maria; Jones, Chris; Robinson, Simon P

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

Genomic landscape of diffuse glioma revealed by whole genome sequencing

全基因组测序揭示弥漫性胶质瘤的基因组图谱

Kinnersley, Ben; Jung, Josephine; Cornish, Alex J; Chubb, Daniel; Laxton, Ross; Frangou, Anna; Gruber, Andreas J; Sud, Amit; Caravagna, Giulio; Sottoriva, Andrea; Wedge, David C; Booth, Thomas; Al-Sarraj, Safa; Lawrence, Samuel E D; Albanese, Erminia; Anichini, Giulio; Baxter, David; Boukas, Alexandros; Chowdhury, Yasir A; D'Urso, Pietro; Corns, Robert; Dapaah, Andrew; Edlmann, Ellie; Greenway, Fay; Grundy, Paul; Hill, Ciaran S; Jenkinson, Michael D; Trichinopoly Krishna, Sandhya; Smith, Stuart; Manivannan, Susruta; Martin, Andrew J; Matloob, Samir; Mukherjee, Soumya; O'Neill, Kevin; Plaha, Puneet; Pollock, Jonathan; Price, Stephen; Rominiyi, Ola; Sachdev, Bobby; Saeed, Fozia; Sinha, Saurabh; Thorne, Lewis; Ughratdar, Ismail; Whitfield, Peter; Youshani, Amir Saam; Bulbeck, Helen; Arumugam, Prabhu; Houlston, Richard; Ashkan, Keyoumars

Temporal Changes in Risk Factors of Hepatocellular Carcinoma in a Prospective Cirrhosis Cohort

前瞻性肝硬化队列研究中肝细胞癌危险因素的时间变化

Cholankeril, George; Thrift, Aaron P; Khaderi, Saira; Kanwal, Fasiha; El-Serag, Hashem B; Duong, Hao; Singal, Amit G; Asrani, Sumeet K; Kourkompetis, Themistoklis; Zamir, Asif; Marrero, Jorge A; Hernaez, Ruben; Luster, Michelle; Al-Sarraj, Abeer; Salem, Emad

The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations

青少年和青年患者群体中发生的IDH和H3野生型高级别胶质瘤亚组的谱系

Pereira, Rita; Mackay, Alan; Grabovska, Yura; Bradley, Amelia; Bloom, Tabitha; Nicoll, James; Boche, Delphine; Procter, John; Maybury, Mellissa; Schagen, Johanna; Walker, Liam; Roncaroli, Federico; Karabatsou, Konstantina; Ogunbiyi, Olumide; van Dalen, Thijs; Sidpra, Jai; Rossi, Sabrina; Miele, Evelina; Ziegler, David S; Shi, Zhifeng; Jacques, Thomas S; Hargrave, Darren; Zebian, Bassel; Bleil, Cristina; Yates, Joseph; Norton, Emma; Mandeville, Henry; Creak, Antonia; Welsh, Liam; Marshall, Lynley; Carceller, Fernando; Vaidya, Sucheta J; Reisz, Zita; Al-Sarraj, Safa; Mastronuzzi, Angela; Carai, Andrea; Vinci, Maria; Kurian, Kathreena M; Ng, Ho-Keung; Brandner, Sebastian; Jones, Chris; Clarke, Matthew

An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene

一例极其罕见的弥漫性中线胶质瘤,伴有HIST1H3C (H3C3)基因的H3.1 K27M和G34R突变

Reisz, Zita; Pereira, Rita; Nevis, Smitha; Mackay, Alan; Bhaw, Leena; Grabovska, Yura; Laxton, Ross; Molinari, Valeria; Burford, Anna; Clark, Barnaby; Bleil, Cristina; Zebian, Bassel; Pace, Erika; Weiser, Annette; Carceller, Fernando; Marshall, Lynley; King, Andrew; Bodi, Istvan; Al-Sarraj, Safa; Jones, Chris; Clarke, Matthew

Per- and polyfluoroalkyl substances in dog blood serum levels and semen quality

犬血清中全氟和多氟烷基物质水平及精液质量

Weiss, Jana; Engelhardt, Josefin; Holst, Bodil Ström; Al-Sarraj, Razaw; Hallberg, Ida