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Material Type: Artigo
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Myositis‐Associated Autoantibodies in Patients With Juvenile Myositis Are Associated With Refractory Disease and MortalitySherman, Matthew A. ; Noroozi Farhadi, Payam ; Pak, Katherine ; Trieu, Edward P. ; Sarkar, Kakali ; Targoff, Ira N. ; Neely, Megan L. ; Mammen, Andrew L. ; Rider, Lisa G. ; Albert, Daniel A. ; Arabshahi, Bita ; Ardalan, Kaveh ; Baer, Alan N. ; Balboni, Imelda M. ; Ballinger, Susan H. ; Bayat, Nastaran ; Becker, Mara L. ; April Bingham, C. ; Bohnsack, John F. ; Cartwright, Victoria W. ; Cron, Randy Q. ; Curiel, Rodolfo ; Dare, Jason A. ; Guzman, Marietta M. ; Dedeoglu, Fatma ; DeMarco, Paul J. ; Eade, Kaleo ; Eberhard, Barbara Anne ; Edelheit, Barbara S. ; Elder, Melissa E. ; Ferguson, Polly ; Finkel, Terri H. ; Fuhlbrigge, Robert C. ; Gedalia, Abraham ; Goldmuntz, Ellen A. ; Gottlieb, Beth S. ; Guirola, Ricardo ; Hannan, William P. ; Henrickson, Michael ; Hobday, Patricia M. ; Hong, Sandy ; Huber, Adam M. ; Jansen, Anna ; Jarvis, James ; Jones, Olcay Y. ; Kamdar, Ankur ; Kim, Hanna ; Kim, Susan ; Kingsbury, Daniel J. ; Kishi, Takayuki ; Lang, Bianca A. ; Lerman, Melissa ; Lindsley, Carol B. ; Miller, Frederick W. ; Mitchell, Stephen R. ; Nanda, Kabita ; Nativ, Simona ; Onel, Karen B. ; Pena, Wendy ; Perez, Maria D. ; Person, Donald A. ; Pinal‐Fernandez, Iago ; Ronis, Tova ; Sabbagh, Sara E. ; Schiffenbauer, Adam ; Schmeling, Heinrike ; Shaham, Bracha ; Shenoi, Susan ; Soep, Jennifer ; Stoll, Matthew L. ; Sule, Sangeeta ; Tarvin, Stacey E. ; Taylor‐Albert, Elizabeth ; Volochayev, Rita ; Wahezi, Dawn ; White, Patience H. ; Zhao, YongdongArthritis & rheumatology (Hoboken, N.J.), 2024-06, Vol.76 (6), p.963-972 [Periódico revisado por pares]Boston, USA: Wiley Periodicals, IncTexto completo disponível |
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Material Type: Artigo
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Identification of WNK1 as a therapeutic target to suppress IgH/MYC expression in multiple myelomaYe, Tianyi ; Mishra, Alok K. ; Banday, Shahid ; Li, Rui ; Hu, Kai ; Coleman, Madison M. ; Shan, Yi ; Chowdhury, Shreya Roy ; Zhou, Lin ; Pak, Magnolia L. ; Simone, Tessa M. ; Malonia, Sunil K. ; Zhu, Lihua Julie ; Kelliher, Michelle A. ; Green, Michael R.Cell reports (Cambridge), 2024-05, Vol.43 (5), p.114211-114211, Article 114211 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Sickle Cell Disease Related Vasculopathies and Early Evaluation in a Pediatric PopulationPanosyan, Daniel E ; Panosyan, William S ; Corral, Ismael ; Hanudel, Mark R ; Pak, Youngju ; Gotesman, MoranIn vivo (Athens), 2024-05, Vol.38 (3), p.1203-1212 [Periódico revisado por pares]Greece: International Institute of Anticancer ResearchTexto completo disponível |
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Material Type: Artigo
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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive DystoniaEl‐Wahsh, Shadi ; Fellner, Avi ; Hobbs, Matthew ; Copty, Joe ; Deveson, Ira ; Stevanovski, Igor ; Stoll, Marion ; Zhu, Danqing ; Narayanan, Ramesh K. ; Grosz, Bianca ; Worgan, Lisa ; Cheong, Pak Leng ; Yeow, Dennis ; Rudaks, Laura ; Hasan, Md Mehedi ; Hayes, Vanessa M. ; Kennerson, Marina ; Kumar, Kishore R. ; Hayes, MichaelMovement disorders clinical practice (Hoboken, N.J.), 2024-05, Vol.11 (5), p.582-585 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismRebelo, Adriana P. ; Jeanne, Médéric ; Danzi, Matt C. ; Tekin, Mustafa ; Acosta, Maria T. ; Andrews, Ashley ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Bennett, Jimmy ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Bonner, Devon ; Butte, Manish J. ; Byrd, William E. ; Cassini, Thomas ; Chao, Hsiao‐Tuan ; Coakley, Terra R. ; Cobban, Laurel A. ; Cole, F. Sessions ; Colley, Heather A. ; Corner, Brian ; Dai, Hongzheng ; Davis, Joie ; Delgado, Margaret ; Douine, Emilie D. ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Fisher, Paul G. ; Fogel, Brent L. ; Fu, Jiayu ; Glass, Ian ; Gropman, Andrea ; Halley, Meghan C. ; Hassey, Kelly ; Hayes, Nichole ; Horike‐Pyne, Martha ; Huang, Alden ; Izumi, Kosuke ; Jean‐Marie, Orpa ; Jobanputra, Vaidehi ; Ketkar, Shamika ; Kohler, Jennefer N. ; Kravets, Elijah ; Lalani, Seema R. ; Latchman, Kumarie ; LeBlanc, Kimberly ; Lewis, Richard A. ; Liu, Pengfei ; Loo, Sandra K. ; MacRae, Calum A. ; Maghiro, AudreyStephannie C. ; Mahoney, Rachel ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Marth, Gabor ; Martínez‐Agosto, Julian A. ; McConkie‐Rosell, Allyn ; Morava, Eva ; Moretti, Paolo ; Morimoto, Marie ; Neumann, Serena ; Novacic, Donna ; Oglesbee, Devin ; Papp, Jeanette C. ; Petcharet, Leoyklang ; Posey, Jennifer E. ; Potocki, Lorraine ; Rao, Deepak A. ; Raskind, Wendy ; Rosenfeld, Jill A. ; Sabaii, Marla ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Sisco, Kathy ; Smith, Edward C. ; Smith, Carson A. ; Smith, Kevin S. ; Solomon, Ben ; Stergachis, Andrew ; Sullivan, Kathleen ; Tabor, Holly K. ; Tan, Queenie K.‐G. ; Thorson, Willa ; Viskochil, Dave ; Walker, Melissa ; Walley, Nicole M. ; Wambach, Jennifer ; Ward, Patricia A. ; Wegner, Daniel ; Hubshman, Monika Weisz ; Wenger, Tara ; Westerfield, Monte ; Worley, KimAnnals of clinical and translational neurology, 2024-04, Vol.11 (4), p.1075-1079 [Periódico revisado por pares]United States: John Wiley and Sons IncTexto completo disponível |
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Material Type: Artigo
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2024 European Heart Rhythm Association/Heart Rhythm Society/Asia Pacific Heart Rhythm Society/Latin American Heart Rhythm Society expert consensus statement on catheter and surgical ablation of atrial fibrillationTzeis, Stylianos ; Gerstenfeld, Edward P ; Kalman, Jonathan ; Saad, Eduardo B ; Sepehri Shamloo, Alireza ; Andrade, Jason G ; Barbhaiya, Chirag R ; Baykaner, Tina ; Boveda, Serge ; Calkins, Hugh ; Chan, Ngai-Yin ; Chen, Minglong ; Chen, Shih-Ann ; Dagres, Nikolaos ; Damiano, Ralph J ; De Potter, Tom ; Deisenhofer, Isabel ; Derval, Nicolas ; Di Biase, Luigi ; Duytschaever, Mattias ; Dyrda, Katia ; Hindricks, Gerhard ; Hocini, Meleze ; Kim, Young-Hoon ; la Meir, Mark ; Merino, Jose Luis ; Michaud, Gregory F ; Natale, Andrea ; Nault, Isabelle ; Nava, Santiago ; Nitta, Takashi ; O’Neill, Mark ; Pak, Hui-Nam ; Piccini, Jonathan P ; Pürerfellner, Helmut ; Reichlin, Tobias ; Saenz, Luis Carlos ; Sanders, Prashanthan ; Schilling, Richard ; Schmidt, Boris ; Supple, Gregory E ; Thomas, Kevin L ; Tondo, Claudio ; Verma, Atul ; Wan, Elaine Y ; Steven, Daniel ; Agbayani, Michael-Joseph ; Jared Bunch, T ; Chugh, Aman ; Díaz, Juan Carlos ; Freeman, James V ; Hardy, Carina Abigail ; Heidbuchel, Hein ; Johar, Sofian ; Linz, Dominik ; Maesen, Bart ; Noseworthy, Peter A ; Oh, Seil ; Porta-Sanchez, Andreu ; Potpara, Tatjana ; Rodriguez-Diez, Gerardo ; Sacher, Frederic ; Suwalski, Piotr ; Trines, Serge AEuropace (London, England), 2024-03, Vol.26 (4) [Periódico revisado por pares]UK: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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De novo variants in DENND5B cause a neurodevelopmental disorderScala, Marcello ; Ferla, Matteo ; Fatemi, Ali ; Phillips, John A. ; Rio, Marlene ; Siquier, Karine ; Musante, Ilaria ; Baldassari, Simona ; Iacomino, Michele ; Acosta, Maria T. ; Allworth, Aimee ; Afzali, Ben ; Bademci, Guney ; Beck, Anita ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Botto, Lorenzo ; Brown, Gabrielle ; Carrasquillo, Olveen ; Chanprasert, Sirisak ; Chao, HsiaoTuan ; Chinn, Ivan ; Clark, Gary D. ; Cope, Heidi ; Craigen, William J. ; D’Souza, Precilla ; Dipple, Katrina ; Doherty, Daniel ; Doss, Argenia L. ; Fisher, Paul G. ; Fogel, Brent L. ; Gahl, William A. ; Glass, Ian ; Godfrey, Rena A. ; Grajewski, Alana ; Gropman, Andrea ; Halley, Meghan C. ; Hanchard, Neal ; Hassey, Kelly ; Hayes, Nichole ; Hom, Jason ; Huang, Alden ; Introne, Wendy ; Jarvik, Jeffrey ; Jobanputra, Vaidehi ; Kilich, Gonench ; Kohler, Jennefer N. ; Korrick, Susan ; Krasnewich, Donna M. ; Lam, Byron ; Lam, Christina ; Lanpher, Brendan C. ; Loscalzo, Joseph ; Maas, Richard L. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Marth, Gabor ; Martin, Beth A. ; Marwaha, Shruti ; McConkie-Rosell, Allyn ; McCray, Alexa T. ; Moretti, Paolo ; Morimoto, Marie ; Nakano-Okuno, Mariko ; Nieves-Rodriguez, Shirley ; Orengo, James P. ; Pace, Laura ; Parker, Neil H. ; Quinlan, Aaron ; Raper, Anna ; Reuter, Chloe M. ; Rives, Lynette ; Robertson, Amy K. ; Rodan, Lance H. ; Rossignol, Francis ; Saporta, Mario ; Schaechter, Judy ; Seto, Elaine ; Shelkowitz, Emily ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Sweetser, David A. ; Sybert, Virginia ; Tarakad, Arjun ; Velinder, Matt ; Viskochil, Dave ; Ward, Patricia A. ; Wegner, Daniel ; Weisz Hubshman, Monika ; Wener, Mark ; Wenger, Tara ; Reed, Sara ; Al Saif, Hind ; Walsh, Matthew B. ; Gustincich, Stefano ; Ruggiero, Sarah M. ; Fitzgerald, Mark P. ; Helbig, Ingo ; Severino, MariasavinaAmerican journal of human genetics, 2024-03, Vol.111 (3), p.529-543 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Benralizumab versus Mepolizumab for Eosinophilic Granulomatosis with PolyangiitisWechsler, Michael E. ; Nair, Parameswaran ; Terrier, Benjamin ; Walz, Bastian ; Bourdin, Arnaud ; Jayne, David R.W. ; Jackson, David J. ; Roufosse, Florence ; Börjesson Sjö, Lena ; Fan, Ying ; Jison, Maria ; McCrae, Christopher ; Necander, Sofia ; Shavit, Anat ; Walton, Claire ; Merkel, Peter A.The New England journal of medicine, 2024-03, Vol.390 (10), p.911-921 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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Estimating the subnational prevalence of antimicrobial resistant Salmonella enterica serovars Typhi and Paratyphi A infections in 75 endemic countries, 1990-2019: a modelling studyThe Lancet global health, 2024-03, Vol.12 (3), p.e406-e418 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathyDonkervoort, Sandra ; Mohassel, Payam ; Brull, Astrid ; Mozaffar, Tahseen ; Dyment, David A. ; Pajusalu, Sander ; Hurth, Kyle ; McWalter, Kirsty ; Warman‐Chardon, Jodi ; Crunk, Amy ; Foley, A. Reghan ; Allworth, Aimee ; Andrews, Ashley ; Bacino, Carlos A. ; Bademci, Guney ; Baldridge, Dustin ; Bale, Jim ; Barbouth, Deborah ; Beggs, Alan H. ; Berry, Gerard T. ; Bivona, Stephanie ; Blue, Elizabeth ; Brown, Gabrielle ; Butte, Manish J. ; Cassini, Thomas ; Chao, Hsiao‐Tuan ; Chinn, Ivan ; Cogan, Joy D. ; Coggins, Matthew ; Corona, Rosario ; Crouse, Andrew B. ; Dai, Hongzheng ; Davis, Joie ; Douine, Emilie D. ; Emrick, Lisa T. ; Fu, Jiayu ; Hamid, Rizwan ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Horike‐Pyne, Martha ; Huang, Yan ; Hutchison, Sarah ; Kilich, Gonench ; Kobren, Shilpa N. ; Krakow, Deborah ; Krasnewich, Donna M. ; Lam, Christina ; Lanpher, Brendan C. ; Lanza, Ian R. ; Liu, Pengfei ; Longo, Nicola ; Maduro, Valerie V. ; Manolio, Teri A. ; Mao, Rong ; Marom, Ronit ; Martin, Beth A. ; Martin, Martin G. ; Marwaha, Shruti ; McConkie‐Rosell, Allyn ; McGee, Elisabeth ; Miller, Danny ; Mirzaa, Ghayda ; Nakano‐Okuno, Mariko ; Nelson, Stanley F. ; Nieves‐Rodriguez, Shirley ; Pallais, J. Carl ; Petcharet, Leoyklang ; Phillips, John A. ; Quinlan, Aaron ; Rosenfeld, Jill A. ; Sabaii, Marla ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Sisco, Kathy ; Solomon, Ben ; Sullivan, Kathleen ; Sutton, Shirley ; Tan, Queenie K.‐G. ; Amelia, L. M. Tan ; Taylor, Herman ; Tekin, Mustafa ; Toro, Camilo ; Ungar, Rachel A. ; Vanderver, Adeline ; Walker, Melissa ; Wang, Lee‐kai ; Wangler, Michael F. ; Wegner, Daniel ; Wener, Mark ; Westerfield, Monte ; Whitlock, Jordan ; Wolfe, Lynne A. ; Worley, Kim ; Yamamoto, Shinya ; Zhang, Zhe ; Mammen, Andrew L. ; O'Donnell‐Luria, AnneAnnals of clinical and translational neurology, 2024-03, Vol.11 (3), p.629-640 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |