نتائج البحث - "Sweney, Matthew T"

1

دورية أكاديمية

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

المؤلفون: McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E, Bristow, Sara L, Bonkowsky, Joshua L, Perry, Michael Scott, Berg, Anne T, Borlot, Felippe, Esplin, Edward D, Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L, Aradhya, Swaroop, Haldeman-Englert, Chad R, Levy, Rebecca J, Parachuri, Venu G, Lay-Son, Guillermo, de Montellano, David J Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O, Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M, Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L, Humberson, Jennifer B, Assaf, Melissa J, Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R, Palmquist, Rachel, Hammond, Katherine C, Hwang, Sean T, Boutlier, Susan B, Nolan, Melinda, Batley, Kaitlin Y, Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W, Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L, Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M, Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S, Bupp, Caleb P, Park, Kristen L, Muller, Eric, Lupo, Pamela, Pedersen, Robert C, Arain, Amir M, Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M, Plaza, Lautaro, Kellogg, Marissa A, Lora, Evelyn G, Carson, Robert P, Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R, Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M, Trasmonte, Joseph, Burke, Rebecca J, Hurst, Anna C E, Smith, Douglas M, Massingham, Lauren J, Pisani, Laura, Costin, Carrie E, Ostrander, Betsy, Filloux, Francis M, Ananth, Amitha L, Mohamed, Ismail S, Nechai, Alla, Dao, Jasmin M, Fahey, Michael C, Aliu, Ermal, Falchek, Stephen, Press, Craig A, Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J, Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T, Espinoza, A Chris, Van Orman, Colin B, Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A, Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D, Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W, Wilson, Carey A, Guzmán, Guillermo G, Pavliuk, Mariia

المصدر: JAMA neurology ; 79 ; 12 ; 1267 ; 1276 ; United States

العلاقة: https://jamanetwork.com/journals/jamaneurology/fullarticle/2797510Test; McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V, Meibos B, Wong K, Sweney MT, Espinoza AC, Van Orman CB, Weinstock A, Kumar A, Soler-Alfonso C, Nolan DA, Raza M, Rojas Carrion MD, Chari G, Marsh ED, Shiloh-Malawsky Y, Parikh S, Gonzalez-Giraldo E, Fulton S, Sogawa Y, Burns K, Malets M, Montiel Blanco JD, Habela CW, Wilson CA, Guzmán GG, Pavliuk M. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi:10.1001/jamaneurol.2022.3651. PMID: 36315135; PMCID: PMC9623482.; http://hdl.handle.net/20.500.12648/8109Test; JAMA neurology

الإتاحة: https://doi.org/20.500.12648/8109Test
https://doi.org/10.1001/jamaneurol.2022.3651Test
https://hdl.handle.net/20.500.12648/8109Test

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2

دورية أكاديمية

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders

المصدر: Neurology Genetics. 3(2)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Prevention, Pediatric, Neurosciences, Neurodegenerative, Rare Diseases, Clinical Research, Genetics, Clinical sciences

الوصول الحر: https://escholarship.org/uc/item/92d5n5bjTest

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3

دورية أكاديمية

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

المؤلفون: McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E., Bristow, Sara L., Bonkowsky, Joshua L., Perry, Michael Scott, Berg, Anne T., Borlot, Felippe, Esplin, Edward D., Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L., Aradhya, Swaroop, Haldeman-Englert, Chad R., Levy, Rebecca J., Parachuri, Venu G., Lay-Son, Guillermo, De Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O., Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M., Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L., Humberson, Jennifer B., Assaf, Melissa J., Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R., Palmquist, Rachel, Hammond, Katherine C., Hwang, Sean T., Boutlier, Susan B., Nolan, Melinda, Batley, Kaitlin Y., Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W., Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L., Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M., Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S., Bupp, Caleb P., Park, Kristen L., Muller, Eric, Lupo, Pamela, Pedersen, Robert C., Arain, Amir M., Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M., Plaza, Lautaro, Kellogg, Marissa A., Lora, Evelyn G., Carson, Robert P., Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R., Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M., Trasmonte, Joseph, Burke, Rebecca J., Hurst, Anna C. E., Smith, Douglas M., Massingham, Lauren J., Pisani, Laura, Costin, Carrie E., Ostrander, Betsy, Filloux, Francis M., Ananth, Amitha L., Mohamed, Ismail S., Nechai, Alla, Dao, Jasmin M., Fahey, Michael C., Aliu, Ermal, Falchek, Stephen, Press, Craig A., Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J., Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T., Espinoza, A. Chris, Van Orman, Colin B., Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A., Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D., Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W., Wilson, Carey A, Guzmán, Guillermo G., Pavliuk, Mariia

المصدر: Department of Pediatrics Faculty Papers

مصطلحات موضوعية: humans, female, infant, newborn, child, preschool, adolescent, young adult, adult, middle aged, male, retrospective studies, cross-sectional studies, genetic testing, epilepsy, seizures, Medicine and Health Sciences, Neurology, Pediatrics

وصف الملف: application/pdf

العلاقة: https://jdc.jefferson.edu/pedsfp/127Test; https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1130&context=pedsfpTest

الإتاحة: https://jdc.jefferson.edu/pedsfp/127Test
https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1130&context=pedsfpTest

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4

دورية أكاديمية

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

المؤلفون: Knight, Elia M Pestana, Amin, Sam, Bahi-Buisson, Nadia, Benke, Tim A, Cross, J Helen, Demarest, Scott T, Olson, Heather E, Specchio, Nicola, Fleming, Thomas R, Aimetti, Alex A, Gasior, Maciej, Devinsky, Orrin, Belousova, Elena, Belyaev, Oleg, Ben-Zeev, Bruria, Brunklaus, Andreas, Ciliberto, Michael A., Darra, Francesca, Davis, Ronald, De Giorgis, Valentina, Doronina, Olga, Fahey, Michael, Guerrini, Renzo, Heydemann, Peter, Khaletskaya, Olga, Lisewski, Pawel, Marsh, Eric D., Moosa, Ahsan N., Perry, Scott, Philip, Sunny, Rajaraman, Rajsekar R., Renfroe, Ben, Saneto, Russell P., Scheffer, Ingrid E., Sogawa, Yoshimi, Suter, Bernhardt, Sweney, Matthew T., Tarquinio, Daniel, Veggiotti, Pierangelo, Wallace, Geoff, Weisenberg, Judy, Wilfong, Angus, Wirrell, Elaine C., Zafar, Muhammad, Zolnowska, Marta

المساهمون: Marinus Pharmaceuticals

المصدر: The Lancet Neurology ; volume 21, issue 5, page 417-427 ; ISSN 1474-4422

الإتاحة: https://doi.org/10.1016/s1474-4422Test(22)00077-1
https://api.elsevier.com/content/article/PII:S1474442222000771?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1474442222000771?httpAccept=text/plainTest

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5

دورية أكاديمية

Impact of Nonclinical Factors on Treatment Decisions: What Can and Cannot Be Done and Why?

المؤلفون: Sweney, Matthew T.

المصدر: Journal of Pediatric Epilepsy ; volume 9, issue 03, page 092-093 ; ISSN 2146-457X 2146-4588

الإتاحة: https://doi.org/10.1055/s-0040-1716486Test

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6

دورية أكاديمية

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

المؤلفون: Heinzen, Erin L., Swoboda, Kathryn J., Hitomi, Yuki, Gurrieri, Fiorella, De Vries, Boukje, Tiziano, F. Danilo, Fontaine, Bertrand, Walley, Nicole M., Heavin, SinÃ©ad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T., Newcomb, Tara M., Viollet, Louis, Huff, Chad, Jorde, Lynn B., Reyna, Sandra P., Murphy, Kelley J., Shianna, Kevin V., Gumbs, Curtis E., Little, Latasha, Silver, Kenneth, PtÃ¡Äek, Louis J., Haan, Joost, Ferrari, Michel D., Bye, Ann M., Herkes, Geoffrey K., Whitelaw, Charlotte M., Webb, David, Lynch, Bryan J., Uldall, Peter, King, Mary D., Scheffer, Ingrid E., Neri, Giovanni, Arzimanoglou, Alexis, Van Den Maagdenberg, Arn M. J. M., Sisodiya, Sanjay M., Mikati, Mohamad A., Goldstein, David B., Koelewijn, Stephany, Kamphorst, Jessica, Geilenkirchen, Marije, Pelzer, Nadine, Ferrari, Michel, Van Den Maagdenberg, Arn, Zucca, Claudio, Franchini, Filippo, Vavassori, Rosaria, Giannotta, Melania, Gobbi, Giuseppe, Granata, Tiziana, Nardocci, Nardo, De Grandis, Elisa, Veneselli, Edvige, Stagnaro, Michela, Vigevano, Federico, Oechsler, Claudia, Nicole, Sophie, Ninan, Miriam, Neville, Brian, Ebinger, Friedrich, Fons, Carmen, Campistol, Jaume, Kemlink, David, Nevsimalova, Sona, Laan, Laura, Peeters-Scholte, Cacha, Casaer, Paul, Casari, Giorgio, Sange, Guenter, Spiel, Georg, F. MARTINELLI BONESCHI, Bassi, Maria Teresa, Schyns, Tsveta, Crawley, Francis, Poncelin, Dominique

المساهمون: E.L. Heinzen, K.J. Swoboda, Y. Hitomi, F. Gurrieri, B. De Vrie, F.D. Tiziano, B. Fontaine, N.M. Walley, S. Heavin, E. Panagiotakaki, S. Fiori, E. Abiusi, L. Di Pietro, M.T. Sweney, T.M. Newcomb, L. Viollet, C. Huff, L.B. Jorde, S.P. Reyna, K.J. Murphy, K.V. Shianna, C.E. Gumb, L. Little, K. Silver, L.J. Ptã¡äek, J. Haan, M.D. Ferrari, A.M. Bye, G.K. Herke, C.M. Whitelaw, D. Webb, B.J. Lynch, P. Uldall, M.D. King, I.E. Scheffer, G. Neri, A. Arzimanoglou, A.M.J.M. Van Den Maagdenberg, S.M. Sisodiya, M.A. Mikati, D.B. Goldstein, S. Koelewijn, J. Kamphorst, M. Geilenkirchen, N. Pelzer, M. Ferrari, A. Van Den Maagdenberg, C. Zucca, F. Franchini, R. Vavassori, M. Giannotta, G. Gobbi, T. Granata, N. Nardocci, E. De Grandi, E. Veneselli, M. Stagnaro, F. Vigevano, C. Oechsler, S. Nicole, M. Ninan, B. Neville, F. Ebinger, C. Fon, J. Campistol, D. Kemlink, S. Nevsimalova, L. Laan, C. Peeters-Scholte, P. Casaer, G. Casari, G. Sange, G. Spiel, F. MARTINELLI BONESCHI, M.T. Bassi, T. Schyn, F. Crawley, D. Poncelin

مصطلحات موضوعية: Adult, Animal, COS Cell, Cercopithecus aethiop, Child, Family, Female, Genetic Predisposition to Disease, HeLa Cell, Hemiplegia, High-Throughput Nucleotide Sequencing, Human, Male, Models, Biological, Pedigree, Protein Structure, Secondary, Sodium-Potassium-Exchanging ATPase, Mutation, Genetics, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22842232; info:eu-repo/semantics/altIdentifier/wos/WOS:000308491200015; volume:44; issue:9; firstpage:1030; lastpage:1034; numberofpages:5; journal:NATURE GENETICS; http://hdl.handle.net/2434/533451Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84865684547

الإتاحة: https://doi.org/10.1038/ng.2358Test
http://hdl.handle.net/2434/533451Test

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