Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kathryn Swoboda"'
Autor:
Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A. Holm, Jennifer Taylor, Joseph J. Orsini, Luca Brunelli, Joanne Adelberg, Olaf Bodamer, Sarah Viall, Curt Scharfe, Melissa Wasserstein, Jin Y. Chen, Maria Escolar, Aaron Goldenberg, Kathryn Swoboda, Can Ficicioglu, Dieter Matern, Rachel Lee, Michael Watson
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, diagnose, an
Externí odkaz:
https://doaj.org/article/69e4a7a69f5f45cab99bfe2d9ff3fbdd
Autor:
Bo Yang, Mingliang Qu, Rengang Wang, Jon E Chatterton, Xiao-Bo Liu, Bing Zhu, Sonoko Narisawa, Jose Luis Millan, Nobuki Nakanishi, Kathryn Swoboda, Stuart A Lipton, Dongxian Zhang
Publikováno v:
eLife, Vol 4 (2015)
Hitherto, membralin has been a protein of unknown function. Here, we show that membralin mutant mice manifest a severe and early-onset motor neuron disease in an autosomal recessive manner, dying by postnatal day 5–6. Selective death of lower motor
Externí odkaz:
https://doaj.org/article/6372ba534f6042f3a37c0d0883d048b4
Autor:
Nora Tula Detering, Alberto Zambon, Niko Hensel, Rashmi Kothary, Kathryn Swoboda, Thomas H. Gillingwater, Giovanni Baranello, Simon Parson, Mariascristina Scoto, Melissa Bowerman, John Vissing, Brunhilde Wirth, Peter Claus, Janbernd Kirschner, Enrico Bertini, Stefania Corti, Lorenzo Maggi, Ludo van der Pol, Ewout Groen, Charlotte Sumner, Eduardo Tizzano, Susana Quijano Roy, Isabelle Desguerre, Alexander Van Nuijs, Mencia De Lemus, Rivka Smit, Mary Schroth, Ben Tichler, Ksenija Gorni, Deepa Chand
Publikováno v:
Neuromuscular Disorders. 32:697-705
Autor:
Nancy Kuntz, Julie Parsons, John F. Brandsema, Crystal Proud, Richard Finkel, Kathryn Swoboda, Ricardo Masson, Yingying Liu, Corinne Makepeace, Angela Paradis, Zdenek Berger, Kathleen Somera-Molina
Publikováno v:
Tuesday, April 25.
Autor:
Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen, Francesco Danilo Tiziano, Eduardo Tizzano, Haluk Topaloglu, Kathy Swoboda, Nigel Laing, Saito Kayoko, Thomas Prior, Wendy K. Chung, Shou-Mei Wu, Elena Mazzone, Caron Coleman, Richard Gee, Allan Glanzman, Anna-Karin Kroksmark, Kristin Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Jean Dubousset, David Farrington, Jack Flynn, Matthew Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin Roye, Paul Sponseller, Muharrem Yazici, Rebecca Hurst, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas Crawford, Kevin Foust, Barbara Kyle, Lance Rodan, Helen Roper, Erin Seffrood, Kathryn Swoboda, Agnieszka Szlagatys-Sidorkiewicz
Publikováno v:
Neuromuscular Disorders. 28:103-115
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA
Autor:
Robert J. Adams, James W. Albers, Lloyd M. Alderson, Michael P. Alexander, Anthony A. Amato, Sepideh Amin-Hanjani, Richard M. Armstrong, Gerald M. Aronoff, Ajay K. Arora, Tetsuo Ashizawa, Viken L. Babikian, Joachim M. Baehring, Zahid H. Bajwa, Robert W. Baloh, Patrick D. Barnes, Richard J. Barohn, Steven M. Baskin, Isabelita R. Bella, Richard J. Benjamin, Alan R. Berger, Susan Biener Bergman, Marcelo E. Bigal, José Biller, Peter McLaren Black, Charles F. Bolton, David Borsook, Lawrence M. Brass, Jon Brillman, Edward B. Bromfield, Robert H. Brown, John C.M. Brust, Louis R. Caplan, David A. Chad, Michael E. Charness, Marc I. Chimowitz, Catherine Cho, Cathy Chuang, Winthrop H. Churchill, Alan R. Cohen, Douglas G. Cole, John P. Conomy, Clifford C. Dacso, Kirk R. Daffner, Josep O. Dalmau, Basil T. Darras, Patricia H. Davis, David M. Dawson, Lisa M. DeAngelis, Umberto De Girolami, L. Dana DeWitt, Luis D'Olhaberriague, Frank W. Drislane, Edward J. Dropcho, Bruce Ehrenberg, Marc E. Eichler, Conrado J. Estol, Bradley K. Evans, Gilbert J. Fanciullo, Robert G. Feldman, Steven K. Feske, Scott M. Fishman, Barry S. Fogel, Roy L. Freeman, Joseph H. Friedman, Matthew P. Frosch, Melissa Frumin, Anthony J. Furlan, George A. Gates, David S. Geckle, Thomas P. Giordano, Mel B. Glenn, Martin A. Goldstein, Christopher M. Gomez, Clifton L. Gooch, Francesc R. Graus, Harry S. Greenberg, Stephen B. Greenberg, Melvin Greer, Robert C. Griggs, Sheldon G. Gross, Stuart A. Grossman, Michael L. Gruber, Ludwig Gutmann, Walter A. Hall, Mark Hallett, Julie E. Hammack, Yadollah Harati, Richard L. Harris, Christopher H. Hawkes, Michael T. Hayes, David N. Herrmann, Fred H. Hochberg, Dave Hollander, Gregory L. Holmes, Liangge Hsu, Daniel M. Jacobson, Robert N. Jamison, Joseph Jankovic, Tom J. Jeerakathil, Donald R. Johns, H. Royden Jones, Henry J. Kaminski, Percy N. Karanjia, Carlos S. Kase, Bashar Katirji, Jonathan S. Katz, Nathaniel P. Katz, John J. Kelly, Drew S. Kern, Shahram Khoshbin, Howard S. Kirshner, Edwin H. Kolodny, Bruce R. Korf, Walter J. Koroshetz, Lauren B. Krupp, David B. Kudrow, Rajeev Kumar, Robert S. Kunkel, Roger Kurlan, David Lacomis, Eugene C. Lai, Robert Laureno, Susan LaViolette, J. Douglas Lee, Edward J. Levine, Robert Aaron Levine, Steven R. Levine, Peter LeWitt, Mark H. Libenson, Richard B. Lipton, Grant T. Liu, Elizabeth W. Loder, Jay S. Loeffler, Eric L. Logigian, Betsy B. Love, Steven Lovitt, Jeffrey D. Macklis, Ami K. Mankodi, Frederick J. Marshall, Randall S. Marshall, Jean K. Matheson, Kathleen McEvoy, Robert R. McKendall, Daniel Miller, Edison Miyawaki, J.P. Mohr, Fiona Molloy, Patricia M. Moore, Michael Mufson, Sharon P. Nations, Craig Patrick Nolan, Patrick E. Nolan, Thorkild V. Norregaard, Kathryn N. North, Cormac A. O'Donovan, Chima O. Ohaegbulam, Richard K. Olney, Russell C. Packard, John K. Park, Roy A. Patchell, John R. Peteet, Ronald C. Petersen, Kendra Peterson, Jackson B. Pickett, William F. Pirl, Scott R. Plotkin, Scott L. Pomeroy, Frisso Potts, Daniel Press, David C. Preston, Bruce H. Price, Amy Pruitt, Michael T. Pulley, Naren Ramakrishna, Alan M. Rapoport, Paula Ravin, Elizabeth M. Raynor, Lawrence D. Recht, Kurt Reed, Dorene M. Rentz, Gary S. Richardson, Jeffrey M. Robbins, Diana L. Rodriguez, Loren Rolak, Michael Ronthal, Patrick A. Roth, Jeffrey D. Rothstein, Robert L. Ruff, James A. Russell, Thomas D. Sabin, Ahmed H. Sadek, Eileen Salmanson, Nalini Samuel, Martin A. Samuels, Steven C. Schachter, David Schiff, Donald Schomer, H. Christian Schumacher, R. Michael Scott, Elizabeth A. Sekul, Barbara E. Shapiro, Nutan Sharma, Jeremy M. Shefner, Fred D. Sheftell, Dennis C. Shrieve, Joao O. Siffert, Cathy A. Sila, Carlos Singer, Marca L. Sipski, Linda A. Specht, Egilius L.H. Spierings, Steven Spindel, Barney J. Stern, Lael A. Stone, Guillermo A. Suarez, Lewis R. Sudarsky, Kathryn Swoboda, William T. Talman, Nancy J. Tarbell, Daniel Tarsy, Philip A. Teal, Siew Koon Teoh, Daryl W. Thompson, William R. Tyor, Nagagopal Venna, David M. Vernick, Aljoeson Walker, Carol A. Warfield, Cheryl Waters, Lawrence R. Wechsler, Randall E. Weeks, David H. Weinberg, Sandra Weintraub, Dennis Y. Wen, Patrick Y.C. Wen, Janice F. Wiesman, Asa J. Wilbourn, Temple W. Williams, Barth L. Wilsey, Philip A. Wolf, G. Bryan Young, Amir Zamani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3acd1d9e6ed2ee47bf0d5f23b649a8c9
https://doi.org/10.1016/b0-44-306557-8/50001-0
https://doi.org/10.1016/b0-44-306557-8/50001-0
Autor:
Tournev, I., Thomas, P. K., Gooding, R., Angelicheva, D., King, R., Youl, B., Guergueltcheva, V., Ishpekova, B., Blechsmidt, K., Kathryn Swoboda, Petkov, R., Molnar, M., Kamenov, Z., Siskai, E., Taneva, N., Borisova, P., Lupu, C., Raycheva, M., Trifonova, N., Popova, A., Corches, A., Litvinenko, I., Merlini, L., Katzarova, M., Tzankov, B., Popa, G., Akkari, P., Rosenthal, A., Donzelli, O., Kalaydjieva, L.
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::27f63b0f2fe44a08b6b1949d3ff1e8b4
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035722408&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035722408&partnerID=MN8TOARS