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High-grade astrocytoma with piloid features (HGAP) comprehensive update: histological grading, molecular markers and clinical outcomes 高级别毛细胞样星形细胞瘤(HGAP)综合更新：组织学分级、分子标记物和临床结局 Zhang, Shuodan; Singh, Omkar; Dazelle, Karen; Abdullaev, Zied; Cimino, Patrick J.; Lucas, Calixto-Hope; Cathcart, Sahara J.; Mount, Christopher; Lakis, Nelli S.; Pytel, Peter; Goodwill, Vanessa S.; Macaulay, Robert J. B.; Mcdonald, William; Seidman, Roberta J.; Wood, Matthew D.; Bharani, Krishna L.; Neltner, Janna; Richard, Hope; Chang, Koping; Szymanski, Linda J.; Yip, Stephen; Mukherjee, Abir; Neto, Osorio Lopes Abath; Sharma, Suash; Green, Richard; Brown, Daniel; Gubbiotti, Maria; Eschbacher, Jennifer; Gokden, Murat; Vincentelli, Cristina; Yong, William; Lee, Julieann C.; Aldape, Kenneth 分享 收藏
Molecular, histologic, and clinical characterization of methylation class pleomorphic xanthoastrocytoma: An analysis of 469 tumors 甲基化类别多形性黄色星形细胞瘤的分子、组织学和临床特征：一项469例肿瘤的分析 Dampier, Christopher H.; Shah, Niharika; Galbraith, Kristyn; Ebrahimi, Azadeh; Neto, Osorio Lopes Abath; Abdullaev, Zied; Alexandrescu, Sanda; Andreiuolo, Felipe; Armstrong, Terri; Baker, Tiffany; Cathcart, Sahara; Chung, Hye-Jung; Cimino, Patrick J.; Conway, Kyle S.; Cotter, Jennifer; Costa, Felipe D'Almeida; Dazelle, Karen; Etminam, Nima; Ferman, Sima Esther; Fernandes, Igor; Ferrone, Christina K.; Gilani, Ahmed; Gilbert, Mark; Gregory, Jason; Ketchum, Courtney; Lee, Han Sung; Lee, Ina; Lopes, Maria Beatriz S.; Mao, Qinwen; Marshall, Michael S.; McCord, Matthew; Neill, Stewart G.; Nirschl, Jeffrey J.; Ozer, Byram H.; Paulus, Werner; Penas-Prado, Marta; Prinz, Marco; Pytel, Peter; Quezado, Martha; Raffeld, Mark; Rajan, Sharika; Ratliff, Miriam; Reifenberger, Guido; Robinson, Lorraina; Schittenhelm, Jens; Schrimpf, Daniel; Singh, Omkar; Thomas, Christian; Thomas, Diana; Thomas-Ogunniyi, Jaiyeola; Toland, Angus; Turakulov, Rust; Vaubel, Rachael; Wadhwani, Nitin; Wu, Jing; Giannini, Caterina; Snuderl, Matija; Brandner, Sebastian; von Deimling, Andreas; Aldape, Kenneth 分享 收藏
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Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Donkervoort, Sandra; van de Locht, Martijn; Ronchi, Dario; Reunert, Janine; McLean, Catriona A.; Zaki, Maha; Orbach, Rotem; de Winter, Josine M.; Conijn, Stefan; Hoomoedt, Daan; Neto, Osorio Lopes Abath; Magri, Francesca; Viaene, Angela N.; Foley, A. Reghan; Gorokhova, Svetlana; Bolduc, Veronique; Hu, Ying; Acquaye, Nicole; Napoli, Laura; Park, Julien H.; Immadisetty, Kalyan; Miles, Lee B.; Essawi, Mona; McModie, Salar; Ferreira, Leonardo F.; Zanotti, Simona; Neuhaus, Sarah B.; Medne, Livija; ElBagoury, Nagham; Johnson, Kory R.; Zhang, Yong; Laing, Nigel G.; Davis, Mark R.; Bryson-Richardson, Robert J.; Hwee, Darren T.; Hartman, James J.; Malik, Fady I.; Kekenes-Huskey, Peter M.; Comi, Giacomo Pietro; Sharaf-Eldin, Wessam; Marquardt, Thorsten; Ravenscroft, Gianina; Bonnemann, Carsten G.; Ottenheijm, Coen A. C. 分享 收藏
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy Moreno, Cristiane Araujo Martins; Artilheiro, Mariana Cunha; Fonseca, Alulin Tacio Quadros Santos Monteiro; Camelo, Clara Gontijo; de Medeiros, Gisele Chagas; Sassi, Fernanda Chiarion; de Andrade, Claudia Regina Furquim; Donkervoort, Sandra; Silva, Andre Macedo Serafim; Dalfior-Junior, Luiz; Abath-Neto, Osorio Lopes; Reed, Umbertina Conti; Boennemann, Carsten; Zanoteli, Edmar 分享 收藏
Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions Wu, Zhichao; Rajan, Sharika; Chung, Hye-Jung; Raffeld, Mark; Selvam, Pavalan Panneer; Schweizer, Leonille; Perry, Arie; Samuel, David; Giannini, Caterina; Ragunathan, Aditya; Frosch, Matthew P.; Marshall, Michael S.; Boue, Daniel R.; Donev, Kliment; Neill, Stewart G.; Fernandes, Igor; Resnick, Adam; Rood, Brian; Cummings, Thomas J.; Buckley, Anne F.; Szymanski, Linda; Neto, Osorio Lopes Abath; Zach, Leor; Colman, Howard; Cheshier, Samuel; Ziskin, Jennifer; Tyagi, Manoj; Capper, David; Abdullaev, Zied; Cimino, Patrick J.; Quezado, Martha; Pratt, Drew; Aldape, Kenneth 分享 收藏
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies Labasse, Clemence; Brochier, Guy; Taratuto, Ana-Lia; Cadot, Bruno; Rendu, John; Monges, Soledad; Biancalana, Valerie; Quijano-Roy, Susana; Bui, Mai Thao; Chanut, Anais; Madelaine, Angeline; Lacene, Emmanuelle; Beuvin, Maud; Amthor, Helge; Servais, Laurent; de Feraudy, Yvan; Erro, Marcela; Saccoliti, Maria; Abath Neto, Osorio; Faure, Julien; Lannes, Beatrice; Laugel, Vincent; Coppens, Sandra; Lubieniecki, Fabiana; Bello, Ana Buj; Laing, Nigel; Evangelista, Teresinha; Laporte, Jocelyn; Bohm, Johann; Romero, Norma B. 分享 收藏
DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival Wu, Zhichao; Lopes Abath Neto, Osorio; Bale, Tejus A.; Benhamida, Jamal; Mata, Douglas; Turakulov, Rust; Abdullaev, Zied; Marker, Daniel; Ketchum, Courtney; Chung, Hye-Jung; Giannini, Caterina; Quezado, Martha; Pratt, Drew; Aldape, Kenneth 分享 收藏
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss 呈现听力损失的巴西大型队列的分子和遗传特征 Batissoco, Ana Carla; Pedroso-Campos, Vinicius; Pardono, Eliete; Sampaio-Silva, Juliana; Sonoda, Cindy Yukimi; Vieira-Silva, Gleiciele Alice; da Silva de Oliveira Longati, Estefany Uchoa; Mariano, Diego; Hoshino, Ana Cristina Hiromi; Tsuji, Robinson Koji; Jesus-Santos, Rafaela; Abath-Neto, Osorio; Bento, Ricardo Ferreira; Oiticica, Jeanne; Lezirovitz, Karina 分享 收藏
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase Neto, Osorio Lopes Abath; Medne, Livija; Donkervoort, Sandra; Elena Rodriguez-Garcia, Maria; Bolduc, Veronique; Hu, Ying; Guadagnin, Eleonora; Foley, A. Reghan; Brandsema, John F.; Glanzman, Allan M.; Tennekoon, Gihan, I; Santi, Mariarita; Berger, Justin H.; Megeney, Lynn A.; Komaki, Hirofumi; Inoue, Michio; Javier Cotrina-Vinagre, Francisco; Hernandez-Lain, Aurelio; Martin-Hernandez, Elena; Williams, Linford; Borell, Sabine; Schorling, David; Lin, Kimberly; Kolokotronis, Konstantinos; Lichter-Konecki, Uta; Kirschner, Janbernd; Nishino, Ichizo; Banwell, Brenda; Martinez-Azorin, Francisco; Burgon, Patrick G.; Bonnemann, Carsten G. 分享 收藏
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HHV-6 and hippocampal volume in patients with mesial temporal sclerosis Akinsoji, Elizabeth O.; Leibovitch, Emily; Billioux, B. Jeanne; Neto, Osorio Lopes Abath; Ray-Chaudhury, Abhik; Inati, Sara K.; Zaghloul, Kareem; Heiss, John; Jacobson, Steven; Theodore, William H. 分享 收藏
High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma Raffeld, Mark; Abdullaev, Zied; Pack, Svetlana D.; Xi, Liqiang; Nagaraj, Sushma; Briceno, Nicole; Vera, Elizabeth; Pittaluga, Stefania; Lopes Abath Neto, Osorio; Quezado, Martha; Aldape, Kenneth; Armstrong, Terri S.; Gilbert, Mark R. 分享 收藏
CD8+ T cells target cerebrovasculature in children with cerebral malaria CD8 T细胞靶向脑型疟疾患儿的脑血管系统 Riggle, Brittany A.; Manglani, Monica; Maric, Dragan; Johnson, Kory R.; Lee, Myoung-Hwa; Abath Neto, Osorio Lopes; Taylor, Terrie E.; Seydel, Karl B.; Nath, Avindra; Miller, Louis H.; McGavern, Dorian B.; Pierce, Susan K. 分享 收藏
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern Servian-Morilla, E.; Cabrera-Serrano, M.; Johnson, K.; Pandey, A.; Ito, A.; Rivas, E.; Chamova, T.; Muelas, N.; Mongini, T.; Nafissi, S.; Claeys, K. G.; Grewal, R. P.; Takeuchi, M.; Hao, H.; Bonnemann, C.; Lopes Abath Neto, O.; Medne, L.; Brandsema, J.; Topf, A.; Taneva, A.; Vilchez, J. J.; Tournev, I.; Haltiwanger, R. S.; Takeuchi, H.; Jafar-Nejad, H.; Straub, V.; Paradas, Carmen 分享 收藏
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration Shashi, Vandana; Magiera, Maria M.; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schoeneborn, Sabine; Norman, Andrew; Neto, Osorio Lopes Abath; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A.; Marom, Ronit; Arold, Stefan T.; Guzman-Vega, Francisco J.; Pena, Loren D. M.; Smith, Edward C.; Steinlin, Maja; Babiker, Mohamed O. E.; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S.; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y.; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G.; Wentzensen, Ingrid M.; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S.; Goldstein, David B.; Schoser, Benedikt; Rosler, Kai M.; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M.; Kamsteeg, Erik-Jan; Bonnemann, Carsten G.; Gleeson, Joseph G.; Martini, Rudolf; Janke, Carsten; Senderek, Jan 分享 收藏
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