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收藏分享 收藏 分享 收藏 Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study英国住院儿童和青少年SARS-CoV-2感染的神经系统表现: 一项前瞻性国家队列研究
Ray, Stephen T. J.; Abdel-Mannan, Omar; Sa, Mario; Fuller, Charlotte; Wood, Greta K.; Pysden, Karen; Yoong, Michael; McCullagh, Helen; Scott, David; McMahon, Martin; Thomas, Naomi; Taylor, Micheal; Illingworth, Marjorie; McCrea, Nadine; Davies, Victoria; Whitehouse, William; Zuberi, Sameer; Guthrie, Keira; Wassmer, Evangeline; Shah, Nikit; Baker, Mark R.; Tiwary, Sangeeta; Tan, Hui Jeen; Varma, Uma; Ram, Dipak; Avula, Shivaram; Enright, Noelle; Hassell, Jane; Russell, Amy L. Ross; Kumar, Ram; Mulholland, Rachel E.; Pett, Sarah; Galea, Ian; Thomas, Rhys H.; Lim, Ming; Hacohen, Yael; Solomon, Tom; Griffiths, Michael J.; Michael, Benedict; Kneen, Rachel 分享 收藏 cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing由于组蛋白前mRNA加工的先天性错误，cGAS介导的I型干扰素的诱导Uggenti, Carolina; Lepelley, Alice; Depp, Marine; Badrock, Andrew P.; Rodero, Mathieu P.; El-Daher, Marie-Therese; Rice, Gillian I.; Dhir, Somdutta; Wheeler, Ann P.; Dhir, Ashish; Albawardi, Waad; Fremond, Marie-Louise; Seabra, Luis; Doig, Jennifer; Blair, Natalie; Martin-Niclos, Maria Jose; Della Mina, Erika; Rubio-Roldan, Alejandro; Garcia-Perez, Jose L.; Sproul, Duncan; Rehwinkel, Jan; Hertzog, Jonny; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Baruteau, Julien; Brochard, Karine; Buckley, Jonathan; Cavallera, Vanessa; Cereda, Cristina; De Waele, Liesbeth M. H.; Dobbie, Angus; Doummar, Diane; Elmslie, Frances; Koch-Hogrebe, Margarete; Kumar, Ram; Lamb, Kate; Livingston, John H.; Majumdar, Anirban; Lorenco, Charles Marques; Orcesi, Simona; Peudenier, Sylviane; Rostasy, Kevin; Salmon, Caroline A.; Scott, Christiaan; Tonduti, Davide; Touati, Guy; Valente, Marialuisa; van der Linden, Helio, Jr.; Van Esch, Hilde; Vermelle, Marie; Webb, Kate; Jackson, Andrew P.; Reijns, Martin A. M.; Gilbert, Nick; Crow, Yanick J. 分享 收藏 分享 收藏 分享 收藏 Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (vol 48, pg 1185, 2016)Jenkinson, Emma M.; Rodero, Mathieu P.; Kasher, Paul R.; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C.; Rose, Yoann; Kershaw, Christopher J.; Urquhart, Jill E.; Williams, Simon G.; Bhaskar, Sanjeev S.; O'Sullivan, James; Baerlocher, Gabriela M.; Haubitz, Monika; Aubert, Geraldine; Baranano, Kristin W.; Barnicoat, Angela J.; Battini, Roberta; Berger, Andrea; Blair, Edward M.; Brunstrom-Hernandez, Janice E.; Buckard, Johannes A.; Cassiman, David M.; Caumes, Rosaline; Cordelli, Duccio M.; De Waele, Liesbeth M.; Fay, Alexander J.; Ferreira, Patrick; Fletcher, Nicholas A.; Fryer, Alan E.; Goel, Himanshu; Hemingway, Cheryl A.; Henneke, Marco; Hughes, Imelda; Jefferson, Rosalind J.; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G.; Lourenco, Charles M.; Malpas, Timothy J.; Mehta, Sarju G.; Metz, Imke; Naidu, Sakkubai; Ounap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; Schiffmann, Raphael; Sherr, Elliott H.; Sinnathuray, Kanaga R.; Soh, Calvin; Stewart, Helen S.; Stone, John; Van Esch, Hilde; Van Mol, Christine E. G.; Vanderver, Adeline; Wakeling, Emma L.; Whitney, Andrea; Pavitt, Graham D.; Griffiths-Jones, Sam; Rice, Gillian I.; Revy, Patrick; van der Knaap, Marjo S.; Livingston, John H.; O'Keefe, Raymond T.; Crow, Yanick J. 分享 收藏 Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsJenkinson, Emma M.; Rodero, Mathieu P.; Kasher, Paul R.; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C.; Rose, Yoann; Kershaw, Christopher J.; Urquhart, Jill E.; Williams, Simon G.; Bhaskar, Sanjeev S.; O'Sullivan, James; Baerlocher, Gabriela M.; Haubitz, Monika; Aubert, Geraldine; Baranano, Kristin W.; Barnicoat, Angela J.; Battini, Roberta; Berger, Andrea; Blair, Edward M.; Brunstrom-Hernandez, Janice E.; Buckard, Johannes A.; Cassiman, David M.; Caumes, Rosaline; Cordelli, Duccio M.; De Waele, Liesbeth M.; Fay, Alexander J.; Ferreira, Patrick; Fletcher, Nicholas A.; Fryer, Alan E.; Goel, Himanshu; Hemingway, Cheryl A.; Henneke, Marco; Hughes, Imelda; Jefferson, Rosalind J.; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G.; Lourenco, Charles M.; Malpas, Timothy J.; Mehta, Sarju G.; Metz, Imke; Naidu, Sakkubai; Ounap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; Schiffmann, Raphael; Sherr, Elliott H.; Sinnathuray, Kanaga R.; Soh, Calvin; Stewart, Helen S.; Stone, John; Van Esch, Hide; Van Mol, Christine E. G.; Vanderver, Adeline; Wakeling, Emma L.; Whitney, Andrea; Pavitt, Graham D.; Griffiths-Jones, Sam; Rice, Gillian I.; Revy, Patrick; van der Knaap, Marjo S.; Livingston, John H.; O'Keefe, Raymond T.; Crow, Yanick J. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signatureRice, Gillian I.; Kasher, Paul R.; Forte, Gabriella M. A.; Mannion, Niamh M.; Greenwood, Sam M.; Szynkiewicz, Marcin; Dickerson, Jonathan E.; Bhaskar, Sanjeev S.; Zampini, Massimiliano; Briggs, Tracy A.; Jenkinson, Emma M.; Bacino, Carlos A.; Battini, Roberta; Bertini, Enrico; Brogan, Paul A.; Brueton, Louise A.; Carpanelli, Marialuisa; De Laet, Corinne; de Lonlay, Pascale; del Toro, Mireia; Desguerre, Isabelle; Fazzi, Elisa; Garcia-Cazorla, Angels; Heiberg, Arvid; Kawaguchi, Masakazu; Kumar, Ram; Lin, Jean-Pierre S-M; Lourenco, Charles M.; Male, Alison M.; Marques, Wilson, Jr.; Mignot, Cyril; Olivieri, Ivana; Orcesi, Simona; Prabhakar, Prab; Rasmussen, Magnhild; Robinson, Robert A.; Rozenberg, Flore; Schmidt, Johanna L.; Steindl, Katharina; Tan, Tiong Y.; van der Merwe, William G.; Vanderver, Adeline; Vassallo, Grace; Wakeling, Emma L.; Wassmer, Evangeline; Whittaker, Elizabeth; Livingston, John H.; Lebon, Pierre; Suzuki, Tamio; McLaughlin, Paul J.; Keegan, Liam P.; O'Connell, Mary A.; Lovell, Simon C.; Crow, Yanick J. 分享 收藏 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusAnderson, Beverley H.; Kasher, Paul R.; Mayer, Josephine; Szynkiewicz, Marcin; Jenkinson, Emma M.; Bhaskar, Sanjeev S.; Urquhart, Jill E.; Daly, Sarah B.; Dickerson, Jonathan E.; O'Sullivan, James; Leibundgut, Elisabeth Oppliger; Muter, Joanne; Abdel-Salem, Ghada M. H.; Babul-Hirji, Riyana; Baxter, Peter; Berger, Andrea; Bonafe, Luisa; Brunstom-Hernandez, Janice E.; Buckard, Johannes A.; Chitayat, David; Chong, Wui K.; Cordelli, Duccio M.; Ferreira, Patrick; Fluss, Joel; Forrest, Ewan H.; Franzoni, Emilio; Garone, Caterina; Hammans, Simon R.; Houge, Gunnar; Hughes, Imelda; Jacquemont, Sebastien; Jeannet, Pierre-Yves; Jefferson, Rosalind J.; Kumar, Ram; Kutschke, Georg; Lundberg, Staffan; Lourenco, Charles M.; Mehta, Ramesh; Naidu, Sakkubai; Nischal, Ken K.; Nunes, Luis; Ounap, Katrin; Philippart, Michel; Prabhakar, Prab; Risen, Sarah R.; Schiffmann, Raphael; Soh, Calvin; Stephenson, John B. P.; Stewart, Helen; Stone, Jon; Tolmie, John L.; van der Knaap, Marjo S.; Vieira, Jose P.; Vilain, Catheline N.; Wakeling, Emma L.; Wermenbol, Vanessa; Whitney, Andrea; Lovell, Simon C.; Meyer, Stefan; Livingston, John H.; Baerlocher, Gabriela M.; Black, Graeme C. M.; Rice, Gillian I.; Crow, Yanick J. 分享 收藏 分享 收藏 分享 收藏 Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune responseRice, Gillian I.; Bond, Jacquelyn; Asipu, Aruna; Brunette, Rebecca L.; Manfield, Iain W.; Carr, Ian M.; Fuller, Jonathan C.; Jackson, Richard M.; Lamb, Teresa; Briggs, Tracy A.; Ali, Manir; Gornall, Hannah; Couthard, Lydia R.; Aeby, Alec; Attard-Montalto, Simon P.; Bertini, Enrico; Bodemer, Christine; Brockmann, Knut; Brueton, Louise A.; Corry, Peter C.; Desguerre, Isabelle; Fazzi, Elisa; Cazorla, Angels Garcia; Gener, Blanca; Hamel, Ben C. J.; Heiberg, Arvid; Hunter, Matthew; van der Knaap, Marjo S.; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G.; Lourenco, Charles M.; Marom, Daphna; McDermott, Michael F.; van der Merwe, William; Orcesi, Simona; Prendiville, Julie S.; Rasmussen, Magnhild; Shalev, Stavit A.; Soler, Doriette M.; Shinawi, Marwan; Spiegel, Ronen; Tan, Tiong Y.; Vanderver, Adeline; Wakeling, Emma L.; Wassmer, Evangeline; Whittaker, Elizabeth; Lebon, Pierre; Stetson, Daniel B.; Bonthron, David T.; Crow, Yanick J. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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