Resultados de búsqueda - Sameer, M.
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The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures
Artículo | por PRESSLER, RONIT M.; Cilio, Maria Roberta; MIZRAHI, ELI M.; MOSHÉ, SOLOMON L.; Magda Lahorgue Nunes; Plouin, Perrine; Vanhatalo, Sampsa; Yozawitz, Elissa; DE VRIES, LINDA S.; PUTHENVEETTIL VINAYAN, KOLLENCHERI; TRIKI, CHAHNEZ C.; WILMSHURST, JO M.; YAMATOMO, HITOSHI; ZUBERI, SAMEER M. | Publicado 2021 |Otros Autores: “…ZUBERI, SAMEER M.…”
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Artículo | por Rice, Gillian I.|||0000-0002-4223-0571; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Eyck, Lien Van; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre|||0000-0003-4902-5332; Berg, Stefan; de Villemeur, Thierry Billette; Bley, Annette E.; Blumkin, Lubov; Boespflug-Tanguy, Odile|||0000-0003-2389-1232; Briggs, Tracy A.; Brimble, Elise; Dale, Russell C..; Darin, Niklas; Debray, François-Guillaume; De Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; Hagelsrum, Gunilla Drake af; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, François; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Bénédicte; Heron, Delphine; Kelly, Diedre A.; Lev, Dorit; Levrat, Virginie; Livingston, John H.; Marti, Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie-Christine; Oppermann, Ilena; Pérez-Dueñas, Belén|||0000-0002-4979-2788; Popp, Bernt; Rodero, Mathieu P.; Rodriguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide|||0000-0001-9371-7454; Vadlamani, Gayatri; Haren, Keith Van; Vila, Miguel Tomas; Vogt, Julie; Wassmer, Evangeline; Wiedemann, Arnaud; Wilson, Callum J.; Zerem, Ayelet; Zweier, Christiane|||0000-0001-8002-2020; Zuberi, Sameer M.; Orcesi, Simona; Vanderver, Adeline L.; Hur, Sun; Crow, Yanick J. | Publicado 2020 |Otros Autores: “…Zuberi, Sameer M.…”
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Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Artículo | por Crow YJ; Chase DS; Schmidt JL; Szynkiewicz M; Forte GMA; Gornall HL; Oojageer A; Anderson B; Pizzino A; Helman, Guy; Abdel-Hamid, Mohamed S.; Abdel-Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M.; Bahi-Buisson, Nadia; Bailey, Kathryn M.; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W.; Bernard, Genevieve; Bianchi, Marika; de Villemeur, Thierry Billette; Blair, Edward M.; Bloom, Miriam; Burlina, Alberto B.; Carpanelli, Maria Luisa; Carvalho, Daniel R.; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E.; Chitayat, David A.; Collins, Abigail E.; Sierra Corcoles, Concepcion; Cordeiro, Nuno J. V.; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C.; D'Arrigo, Stefano; De Goede, Christian G. E. L.; De Laet, Corinne; De Waele, Liesbeth M. H.; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C.; Fazzi, Elisa; Ferrie, Colin D.; Figueiredo, Antonio; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R.; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Lent; Khan, Nasaim; King, Mary D.; Kirk, Edwin P.; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J.; Lin, Jean-Pierre S. -M.; Linnankivi, Tarja; Mackay, Mark T.; Marom, Daphna R.; Lourenco, Charles Marques; McKee, Shane A.; Moroni, Isabella; Morton, Jenny E. V.; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J.; Olivieri, Ivana; Ostergaard, John R.; Perez-Dueñas B; Prendiville, Julie S.; Ramesh, Venkateswaran; Rasmussen, Magnhild; Regal, Luc; Ricci, Federica; Rio, Marlene; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A.; Sinha, Gyanranjan P.; Soler, Doriette; Spiegel, Ronen; Stoedberg, Tommy I.; Straussberg, Rachel; Swoboda, Kathryn J.; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y.; Naude, Johann te Water; Teik, Keng Wee; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S.; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B.; Wassmer, Evangeline; Webb, Hannah J.; Whitehouse, William P.; Whitney, Robyn N.; Zaki, Maha S.; Zuberi, Sameer M.; Livingston, John H.; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I. | Publicado 2015 |Otros Autores: “…Zuberi, Sameer M.…”
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Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome
Artículo | por Perry, M.S.|||0000-0002-1825-846X; Scheffer, I.E.|||0000-0002-2311-2174; Sullivan, J.; Brunklaus, A.|||0000-0002-7728-6903; Boronat, Susana|||0000-0001-7096-5578; Wheless, J.W.; Laux, L.; Patel, A.D.|||0000-0001-9313-1541; Roberts, C.M.; Dlugos, D.; Holder, D.; Knupp, K.G.|||0000-0002-1967-0827; Lallas, M.; Phillips, S.; Segal, E.; Smeyers, P.; Lal, D.|||0000-0002-5173-9636; Wirrell, E.|||0000-0003-3015-8282; Zuberi, Sameer M.; Brünger, T.; Wojnaroski, M.; Maru, B.; O'Donnell, P.; Morton, M.; James, Emma S.; Vila, Maria Cándida|||0000-0003-4593-5822; Huang, N.; Gofshteyn, J.S.|||0000-0003-3354-6176; Rico, S.|||0000-0002-1508-8717 | Publicado 2024 |Otros Autores: “…Zuberi, Sameer M.…”
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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Artículo | por Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; Brimble, Elise; Dale, Russell C.; Darin, Niklas; Debray, François Guillaume; De Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; Drake af Hagelsrum, Gunilla; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, François; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Bénédicte; Heron, Delphine; Kelly, Diedre A.; Lev, Dorit; Levrat, Virginie; Livingston, John H.; Martí Carrera, María Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie Christine; Oppermann, Ilena; Pérez Dueñas, Belén; Popp, Bernt; Rodero, Mathieu P.; Rodríguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide; Vadlamani, Gayatri; Van Haren, Keith; Tomás Vila, Miguel; Vogt, Julie; Wassmer, Evangeline; Wiedemann, Arnaud; Wilson, Callum J.; Zerem, Ayelet; Zweier, Christiane; Zuberi, Sameer M.; Orcesi, Simona; Vanderver, Adeline L.; Hur, Sun; Crow, Yanick J. | Publicado 2020 |Otros Autores: “…Zuberi, Sameer M.…”
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Clinical and molecular phenotype of Aicardi-Goutières syndrome
Artículo | por Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A.; Barroso, Bruno; Baxter, Peter; Benko, Willam S.; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M.; Blau, Nenad; Bonthron, David T.; Briggs, Tracy; Brueton, Louise A.; Brunner, Han G.; Burke, Christopher J.; Carr, Ian M.; Carvalho, Daniel R.; Chandler, Kate E.; Christen, Hans-Jürgen; Corry, Peter C.; Cowan, Frances M.; Cox, Helen; D'Arrigo, Stefano; Dean, John; De Laet, Corinne; De Praeter, Claudine; Déry, Catherine; Ferrie, Colin D.; Flintoff, Kim; Frints, Suzanna G. M.; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutières, Françoise; Green, Andrew J.; Guët, Agnès; Hamel, Ben C. J.; Hayward, Bruce E.; Heiberg, Arvid; Hennekam, Raoul C.; Husson, Marie; Jackson, Andrew P.; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G.; Kao, Amy; King, Mary D.; Kingston, Helen M.; Klepper, Joerg; Van Der Knaap, Marjo S.; Kornberg, Andrew J.; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J.; Livingston, John H.; Lourenco, Charles M.; Lyall, E. G. Hermione; Lynch, Sally A.; Lyons, Michael J.; Marom, Daphna; McClure, John P.; McWilliam, Robert; Melancon, Serge B.; Mewasingh, Leena D.; Moutard, Marie-Laure; Nischal, Ken K.; Østergaard, John R.; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R. Curtis; Roland, Dominique; Rosser, Elisabeth M.; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Bürgi, Sabine; Seal, Sunita; Shalev, Stavit A.; Corcoles, C. Sierra; Sinha, Gyan P.; Soler, Doriette; Spiegel, Ronen; Stephenson, John B. P.; Tacke, Uta; Tiong, Yang Tan; Till, Marianne; Tolmie, John L.; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; Van Coster, Rudy N. A.; Van Der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S. H.; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L.; Willemsen, Michel A. A.; Zankl, Andreas [UNESP]; Zuberi, Sameer M.; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J. | Publicado 2007 |Otros Autores: “…Zuberi, Sameer M.…”
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