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Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing 通过全基因组测序破译ftld-tdp病理亚型的不同遗传危险因素 Pottier, Cyril; Kuecuekali, 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, Julia; Haggarty, Stephen J.; van Rooij, Jeroen GJ.; Mol, Merel O.; Hsiung, Ging-Yuek R.; Graff, Caroline; Oeijerstedt, 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.; 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 分享 收藏
An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene 弥漫性中线胶质瘤伴HIST1H3C (H3C3) 基因H3.1 K27M和G34R突变的罕见病例 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 分享 收藏
IDH- AND H3-WILDTYPE HIGH-GRADE GLIOMAS OCCURRING IN TEENAGERS AND YOUNG ADULT PATIENTS COMPRISE NOVEL MOLECULAR SUBGROUPS 在青少年和年轻成人患者中发生的IDH和H3-WILDTYPE高级别神经胶质瘤包括新的分子亚组 Pereira, Rita; Mackay, Alan; Grabovska, Yura; Clarke, Amelia; Bloom, Tabitha; Nicoll, James; Boche, Delphine; Procter, John; Moore, Andrew; Schagen, Johanna; Walker, Liam; Roncaroli, Federico; Ogunbigi, Olumide; van Dalen, Thijs; Ziegler, David; Shi, Zhi-Feng; Hargrave, Darren; Jacques, Thomas S.; Zebian, Bassel; Bleil, Cristina; Yates, Joseph; Norton, Emma; Mandeville, Henry; Creak, Antonia; Welsh, Liam; Marshall, Lynley; Carceller, Ferndando; Reisz, Zita; Al-Sarraj, Safa; Mastronuzzi, Angela; Carai, Andrea; Vinci, Maria; Kurian, Kathreena; Ng, Ho-Keung; Brandner, Sebastian; Jones, Chris; Clarke, Matthew 分享 收藏
INTEGRATED MOLECULAR PROFILING OF >2000 PAEDIATRIC-TYPE DIFFUSE HIGH-GRADE GLIOMA TUMOURS AND >100 PATIENT-DERIVED MODELS > 2000儿科型弥漫性高级别神经胶质瘤肿瘤和> 100患者衍生模型的综合分子谱分析 Mackay, Alan; Grabovska, Yura; Carvalho, Diana; Burford, Anna; Pereira, Rita; Temelso, Sara; Sejdiu, Drenusha; Crampsie, Shauna; Molinari, Valeria; Rogers, Rebecca; Kessler, Ketty; Bjerke, Lynn; Bridges, Les; Reisz, Zita; Al-Sarraj, Safa; Singh, Navneet; Stapleton, Simon; Bleil, Cristina; Hittite, Samantha; Debian, Bassel; Cockle, Julia; Carceller, Fernando; Clarke, Matthew; Jones, Chris 分享 收藏
AN EXCEPTIONALLY RARE CASE OF A DIFFUSE MIDLINE GLIOMA WITH CONCOMITANT H3.1 K27M AND G34R MUTATIONS IN THEHIST1H3C (H3C3) GENE 弥漫性中线胶质瘤伴hist1h3c (H3C3) 基因H3.1 K27M和G34R突变的罕见病例 Reisz, Zita; Pereira, Rita; Nevis, Smitha; Mackay, Alan; Bhaw, Leena; Grabovska, Yura; Laxton, Ross; Molinari, Valeria; Burford, Anna; Clark, Barnaby; Bleil, Cristina; Zebian, Bassel; Weiser, Annette; Carceller, Fernando; Marshall, Lynley; King, Andrew; Bodi, Istvan; Al-Sarraj, Safa; Jones, Chris; Clarke, Matthew 分享 收藏
CLINICAL AND MOLECULAR FEATURES OF BITHALAMIC GLIOMAS IN CHILDREN AND ADOLESCENTS: MULTICENTRIC STUDY AND META-ANALYSIS 儿童和青少年双丘脑胶质瘤的临床和分子特征: 多中心研究和META分析 Perez-Somarriba, Marta; Cherungonath, Anoop; Wasti, Ajla; Pace, Erika; Benjamin, Philip; Villacampa, Guillermo; Reisz, Zita; Al-Sarraj, Safa; Bridges, Leslie; Jacques, Thomas; Lavarino, Cinzia; Gene, Nagore; Pereira, Rita; Grabovska, Yura; MacKay, Alan; Kessler, Ketty; Clarke, Matthew; Santa-Maria, Vicente; Cruz, Ofelia; La Madrid, Andres Morales; Llort, Anna; Lassaletta, Alvaro; Vazquez-Gomez, Felisa; Carceller, Elena; Garrido, Carmen; Solano-Paez, Palma; Quiroga, Eduardo; Zebian, Bassel; Hettige, Samantha; Cockle, Julia; Mandeville, Henry; Angelini, Paola; Srivatsa, Kavitha; Vaidya, Sucheta; Marshall, Lynley; Jones, Chris; Carceller, Fernando 分享 收藏
Association of cardiovascular disease management drugs with Lewy body dementia: a case-control study 心血管疾病管理药物与路易体痴呆的关系: 一项病例对照研究 Scholz, Sonja W.; Moroz, Brian E.; Saez-Atienzar, Sara; Chia, Ruth; Cahoon, Elizabeth K.; Dalgard, Clifton L.; Dalgard, Clifton L.; Adeleye, Adelani; Soltis, Anthony R.; Alba, Camille; Viollet, Coralie; Bacikova, Dagmar; Hupalo, Daniel N.; Sukumar, Gauthaman; Pollard, Harvey B.; Wilkerson, Matthew D.; Martinez, Elisa McGrath; Black, Sandra E.; Gan-Or, Ziv; Keith, Julia; Masellis, Mario; Rogaeva, Ekaterina; Brice, Alexis; Lesage, Suzanne; Xiromerisiou, Georgia; Calvo, Andrea; Canosa, Antonio; Chio, Adriano; Logroscino, Giancarlo; Mora, Gabriele; Krueger, Reijko; May, Patrick; Alcolea, Daniel; Clarimon, Jordi; Fortea, Juan; Gonzalez-Aramburu, Isabel; Infante, Jon; Lage, Carmen; Lleo, Alberto; Pastor, Pau; Sanchez-Juan, Pascual; Brett, Francesca; Aarsland, Dag; Al-Sarraj, Safa; Attems, Johannes; Gentleman, Steve; Hardy, John A.; Hodges, Angela K.; Love, Seth; Mckeith, Ian G.; Morris, Christopher M.; Morris, Huw R.; Palmer, Laura; Pickering-Brown, Stuart; Ryten, Mina; Thomas, Alan J.; Troakes, Claire; Albert, Marilyn S.; Barrett, Matthew J.; Beach, Thomas G.; Bekris, Lynn M.; Bennett, David A.; Boeve, Bradley F.; Dalgard, Clifton L.; Dawson, Ted M.; Dickson, Dennis W.; Ferman, Tanis; Ferrucci, Luigi; Flanagan, Margaret E.; Foroud, Tatiana M.; Ghetti, Bernardino; Gibbs, J. Raphael; Goate, Alison; Goldstein, David S.; Graff-Radford, Neill R.; Kantarci, Kejal; Kaufmann, Horacio; Kukull, Walter A.; Leverenz, James B.; Mao, Qinwen; Masliah, Eliezer; Monuki, Edwin; Newell, Kathy L.; Palma, Jose-Alberto; Perkins, Matthew; Pletnikova, Olga; Renton, Alan E.; Resnick, Susan M.; Rosenthal, Liana S.; Ross, Owen A.; Scherzer, Clemens R.; Serrano, Geidy E.; Shakkottai, Vikram G.; Sidransky, Ellen; Tanaka, Toshiko; Topol, Eric; Torkamani, Ali; Traynor, Bryan J.; Troncoso, Juan C.; Woltjer, Randy; Wszolek, Zbigniew K.; Scholz, Sonja W.; Freedman, Daryl Michal; Pfeiffer, Ruth M. 分享 收藏
HIGH-GRADE GLIOMAS OCCURRING IN TEENAGERS AND YOUNG ADULT PATIENTS COMPRISE NOVEL MOLECULAR SUBGROUPS Clarke, M. T.; Pereira, R.; Mackay, A.; Grabovska, Y.; Clarke, A.; Nicoll, J.; Procter, J.; Moore, A.; Schagen, J.; Walker, L.; Roncaroli, F.; Ogunbigi, O.; Jacques, T.; Marshall, L.; Carceller, F.; Reisz, Z.; Al-Sarraj, S.; Vinci, M.; Kurian, K.; Ng, H.; Brandner, S.; Jones, C. 分享 收藏
MGMT Promoter Methylation: Prognostication beyond Treatment Response MGMT启动子甲基化: 治疗反应以外的预后 Ashkan, Keyoumars; Baig Mirza, Asfand; Soumpasis, Christos; Syrris, Christoforos; Kalaitzoglou, Dimitrios; Sharma, Chaitanya; James, Zachariah Joseph; Khoja, Abbas Khizar; Ahmed, Razna; Vastani, Amisha; Bartram, James; Chia, Kazumi; Al-Salihi, Omar; Swampilai, Angela; Brazil, Lucy; Laxton, Ross; Reisz, Zita; Bodi, Istvan; King, Andrew; Gullan, Richard; Vergani, Francesco; Bhangoo, Ranjeev; Al-Sarraj, Safa; Lavrador, Jose Pedro 分享 收藏
HIGH-GRADE GLIOMAS OCCURRING IN TEENAGERS AND YOUNG ADULT PATIENTS COMPRISE NOVEL MOLECULAR SUBGROUPS 在青少年和年轻成人患者中发生的高级别神经胶质瘤包括新的分子亚组 Clarke, Matthew; Pereira, Rita; Mackay, Alan; Grabovska, Yura; Clarke, Amelia; Nicoll, James; Procter, John; Moore, Andrew; Schagen, Joanna; Walker, Liam; Roncaroli, Federico; Ogunbigi, Olumide; Jacques, Thomas; Marshall, Lynley; Carceller, Fernando; Reisz, Zita; Al-Sarraj, Safa; Vinci, Maria; Kurian, Kathreena; Ng, Hk; Brandner, Sebastian; Jones, Chris 分享 收藏
Genome-wide characterization of mitochondrial DNA methylation in human brain 人脑线粒体DNA甲基化的全基因组表征 Devall, Matthew; Soanes, Darren M.; Smith, Adam R.; Dempster, Emma L.; Smith, Rebecca G.; Burrage, Joe; Iatrou, Artemis; Hannon, Eilis; Troakes, Claire; Moore, Karen; O'Neill, Paul; Al-Sarraj, Safa; Schalkwyk, Leonard; Mill, Jonathan; Weedon, Michael; Lunnon, Katie 分享 收藏
Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration Trist, Benjamin G.; Fifita, Jennifer A.; Hogan, Alison; Grima, Natalie; Smith, Bradley; Troakes, Claire; Vance, Caroline; Shaw, Christopher; Al-Sarraj, Safa; Blair, Ian P.; Double, Kay L. 分享 收藏
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord 肌萎缩侧索硬化脊髓中SOD1成熟和翻译后修饰的改变 Trist, Benjamin G.; Genoud, Sian; Roudeau, Stephane; Rookyard, Alexander; Abdeen, Amr; Cottam, Veronica; Hare, Dominic J.; White, Melanie; Altvater, Jens; Fifita, Jennifer A.; Hogan, Alison; Grima, Natalie; Blair, Ian P.; Kysenius, Kai; Crouch, Peter J.; Carmona, Asuncion; Rufin, Yann; Claverol, Stephane; Van Malderen, Stijn; Falkenberg, Gerald; Paterson, David J.; Smith, Bradley; Troakes, Claire; Vance, Caroline; Shaw, Christopher E.; Al-Sarraj, Safa; Cordwell, Stuart; Halliday, Glenda; Ortega, Richard; Double, Kay L. 分享 收藏
Multisystem screening reveals SARS-CoV-2 in neurons of the myenteric plexus and in megakaryocytes Gray-Rodriguez, Sandra; Jensen, Melanie P.; Otero-Jimenez, Maria; Hanley, Brian; Swann, Olivia C.; Ward, Patrick A.; Salguero, Francisco J.; Querido, Nadira; Farkas, Ildiko; Velentza-Almpani, Elisavet; Weir, Justin; Barclay, Wendy S.; Carroll, Miles W.; Jaunmuktane, Zane; Brandner, Sebastian; Pohl, Ute; Allinson, Kieren; Thom, Maria; Troakes, Claire; Al-Sarraj, Safa; Sastre, Magdalena; Gveric, Djordje; Gentleman, Steve; Roufosse, Candice; Osborn, Michael; Alegre-Abarrategui, Javier 分享 收藏
Tau deposition patterns are associated with functional connectivity in primary tauopathies Franzmeier, Nicolai; Brendel, Matthias; Beyer, Leonie; Slemann, Luna; Kovacs, Gabor G.; Arzberger, Thomas; Kurz, Carolin; Respondek, Gesine; Lukic, Milica J.; Biel, Davina; Rubinski, Anna; Frontzkowski, Lukas; Hummel, Selina; Muller, Andre; Finze, Anika; Palleis, Carla; Joseph, Emanuel; Weidinger, Endy; Katzdobler, Sabrina; Song, Mengmeng; Biechele, Gloria; Kern, Maike; Scheifele, Maximilian; Rauchmann, Boris-Stephan; Perneczky, Robert; Rullman, Michael; Patt, Marianne; Schildan, Andreas; Barthel, Henryk; Sabri, Osama; Rumpf, Jost J.; Schroeter, Matthias L.; Classen, Joseph; Villemagne, Victor; Seibyl, John; Stephens, Andrew W.; Lee, Edward B.; Coughlin, David G.; Giese, Armin; Grossman, Murray; McMillan, Corey T.; Gelpi, Ellen; Molina-Porcel, Laura; Compta, Yaroslau; van Swieten, John C.; Laat, Laura Donker; Troakes, Claire; Al-Sarraj, Safa; Robinson, John L.; Xie, Sharon X.; Irwin, David J.; Roeber, Sigrun; Herms, Jochen; Simons, Mikael; Bartenstein, Peter; Lee, Virginia M.; Trojanowski, John Q.; Levin, Johannes; Hoeglinger, Gunter; Ewers, Michael 分享 收藏
Concomitant neurodegenerative pathologies contribute to the transition from mild cognitive impairment to dementia 伴随的神经退行性疾病有助于从轻度认知障碍过渡到痴呆 McAleese, Kirsty E.; Colloby, Sean J.; Thomas, Alan J.; Al-Sarraj, Safa; Ansorge, Olaf; Neal, James; Roncaroli, Federico; Love, Seth; Francis, Paul T.; Attems, Johannes 分享 收藏
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture 基因组测序分析确定了与路易体痴呆相关的新基因座，并提供了对其遗传结构的见解 Chia, Ruth; Sabir, Marya S.; Bandres-Ciga, Sara; Saez-Atienzar, Sara; Reynolds, Regina H.; Gustavsson, Emil; Walton, Ronald L.; Ahmed, Sarah; Viollet, Coralie; Ding, Jinhui; Makarious, Mary B.; Diez-Fairen, Monica; Portley, Makayla K.; Shah, Zalak; Abramzon, Yevgeniya; Hernandez, Dena G.; Blauwendraat, Cornelis; Stone, David J.; Eicher, John; Parkkinen, Laura; Ansorge, Olaf; Clark, Lorraine; Honig, Lawrence S.; Marder, Karen; Lemstra, Afina; St George-Hyslop, Peter; Londos, Elisabet; Morgan, Kevin; Lashley, Tammaryn; Warner, Thomas T.; Jaunmuktane, Zane; Galasko, Douglas; Santana, Isabel; Tienari, Pentti J.; Myllykangas, Liisa; Oinas, Minna; Cairns, Nigel J.; Morris, John C.; Halliday, Glenda M.; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Grassano, Maurizio; Calvo, Andrea; Mora, Gabriele; Canosa, Antonio; Floris, Gianluca; Bohannan, Ryan C.; Brett, Francesca; Gan-Or, Ziv; Geiger, Joshua T.; Moore, Anni; May, Patrick; Kruger, Rejko; Goldstein, David S.; Lopez, Grisel; Tayebi, Nahid; Sidransky, Ellen; Norcliffe-Kaufmann, Lucy; Palma, Jose-Alberto; Kaufmann, Horacio; Shakkottai, Vikram G.; Perkins, Matthew; Newell, Kathy L.; Gasser, Thomas; Schulte, Claudia; Landi, Francesco; Salvi, Erika; Cusi, Daniele; Masliah, Eliezer; Kim, Ronald C.; Caraway, Chad A.; Monuki, Edwin S.; Brunetti, Maura; Dawson, Ted M.; Rosenthal, Liana S.; Albert, Marilyn S.; Pletnikova, Olga; Troncoso, Juan C.; Flanagan, Margaret E.; Mao, Qinwen; Bigio, Eileen H.; Rodriguez-Rodriguez, Eloy; Infante, Jon; Lage, Carmen; Gonzalez-Aramburu, Isabel; Sanchez-Juan, Pascual; Ghetti, Bernardino; Keith, Julia; Black, Sandra E.; Masellis, Mario; Rogaeva, Ekaterina; Duyckaerts, Charles; Brice, Alexis; Lesage, Suzanne; Xiromerisiou, Georgia; Barrett, Matthew J.; Tilley, Bension S.; Gentleman, Steve; Logroscino, Giancarlo; Serrano, Geidy E.; Beach, Thomas G.; McKeith, Ian G.; Thomas, Alan J.; Attems, Johannes; Morris, Christopher M.; Palmer, Laura; Love, Seth; Troakes, Claire; Al-Sarraj, Safa; Hodges, Angela K.; Aarsland, Dag; Klein, Gregory; Kaiser, Scott M.; Woltjer, Randy; Pastor, Pau; Bekris, Lynn M.; Leverenz, James B.; Besser, Lilah M.; Kuzma, Amanda; Renton, Alan E.; Goate, Alison; Bennett, David A.; Scherzer, Clemens R.; Morris, Huw R.; Ferrari, Raffaele; Albani, Diego; Pickering-Brown, Stuart; Faber, Kelley; Kukull, Walter A.; Morenas-Rodriguez, Estrella; Lleo, Alberto; Fortea, Juan; Alcolea, Daniel; Clarimon, Jordi; Nalls, Mike A.; Ferrucci, Luigi; Resnick, Susan M.; Tanaka, Toshiko; Foroud, Tatiana M.; Graff-Radford, Neill R.; Wszolek, Zbigniew K.; Ferman, Tanis; Boeve, Bradley F.; Hardy, John A.; Topol, Eric J.; Torkamani, Ali; Singleton, Andrew B.; Ryten, Mina; Dickson, Dennis W.; Chio, Adriano; Ross, Owen A.; Gibbs, J. Raphael; Dalgard, Clifton L.; Traynor, Bryan J.; Scholz, Sonja W. 分享 收藏
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