Zobrazeno 1 - 10
of 118
pro vyhledávání: '"Perry B Shieh"'
Autor:
Craig M McDonald, Jessica R Marden, Perry B Shieh, Brenda L Wong, Henry Lane, Adina Zhang, Ha Nguyen, Molly Frean, Panayiota Trifillis, Karyn Koladicz, James Signorovitch
Publikováno v:
Journal of Comparative Effectiveness Research, Vol 12, Iss 4 (2023)
Aim: To examine benefits of corticosteroids for Duchenne muscular dystrophy (DMD) by age and disease progression. Methods: Data from daily steroid users (placebo-treated) were pooled from four phase 2b/3 trials in DMD. Outcomes assessed overall and
Externí odkaz:
https://doaj.org/article/be4dafdf0eb54cbb8bfe4f65177fb28d
Autor:
Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through
Externí odkaz:
https://doaj.org/article/c447334b912746929ee920eb4139f48f
Autor:
Richard S. Finkel, Basil T. Darras, Jerry R. Mendell, John W. Day, Nancy L. Kuntz, Anne M. Connolly, Craig M. Zaidman, Thomas O. Crawford, Russell J. Butterfield, Perry B. Shieh, Gihan Tennekoon, John F. Brandsema, Susan T. Iannaccone, John Shoffner, Sarah Kavanagh, Thomas A. Macek, Sitra Tauscher-Wisniewski
Publikováno v:
Journal of Neuromuscular Diseases. 10:389-404
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder arising from biallelic non-functional survival motor neuron 1 (SMN1) genes with variable copies of partially functional SMN2 gene. Intrathecal onasemnogene abeparvovec administrati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d5eb54d24288fbd5c2fde8424effb87
https://doi.org/10.3233/jnd-221560
https://doi.org/10.3233/jnd-221560
Autor:
Amy Bartlett, Stephen J. Kolb, Allison Kingsley, Kathryn J. Swoboda, Sandra P. Reyna, Ai Sakonju, Basil T. Darras, Richard Shell, Nancy Kuntz, Diana Castro, Susan T. Iannaccone, Julie Parsons, Anne M. Connolly, Claudia A. Chiriboga, Craig McDonald, W. Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B. Shieh, Erika Finanger, Christopher S. Coffey, Jon W. Yankey, Merit E. Cudkowicz, Michelle M. McGovern, D. Elizabeth McNeil, W. David Arnold, John T. Kissel
Publikováno v:
Contemporary Clinical Trials Communications, Vol 11, Iss , Pp 113-119 (2018)
Background/Aims: Recruitment and retention of research participants are challenging and critical components of successful clinical trials and natural history studies. Infants with spinal muscular atrophy (SMA) have been a particularly challenging pop
Externí odkaz:
https://doaj.org/article/c20105f5211a4c60a677082f4b5666d9
Autor:
Rebecca A. Crow, Kimberly A. Hart, Michael P. McDermott, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy M. King, Michele Eagle, Mary W. Brown, Deborah Hirtz, Hanns Lochmuller, Volker Straub, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Anne-Marie Childs, Adnan Y. Manzur, Lucia Morandi, Russell J. Butterfield, Iain Horrocks, Helen Roper, Kevin M. Flanigan, Nancy L. Kuntz, Jean K. Mah, Leslie Morrison, Basil T. Darras, Maja von der Hagen, Ulrike Schara, Ekkehard Wilichowski, Tiziana Mongini, Craig M. McDonald, Giuseppe Vita, Richard J. Barohn, Richard S. Finkel, Matthew Wicklund, Hugh J. McMillan, Imelda Hughes, Elena Pegoraro, W. Bryan Burnette, James F. Howard, Mathula Thangarajh, Craig Campbell, Robert C. Griggs, Kate Bushby, Michela Guglieri
Publikováno v:
Trials, Vol 19, Iss 1, Pp 1-9 (2018)
Abstract Background Trials in rare diseases have many challenges, among which are the need to set up multiple sites in different countries to achieve recruitment targets and the divergent landscape of clinical trial regulations in those countries. Ov
Externí odkaz:
https://doaj.org/article/59fc2ba5f36543fab1efe37a189c7b3f
Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy
Publikováno v:
International Journal of General Medicine. 15:7341-7353
Leigh Ramos-Platt,1 Lauren Elman,2 Perry B Shieh3 1Department of Pediatrics, Keck School of Medicine, University of Southern California and Childrenâs Hospital of Los Angeles, Los Angeles, CA, USA; 2Department of Neurology, University of Pennsyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33cfb3e710bfc6100718282f6d386d19
https://doi.org/10.2147/ijgm.s369021
https://doi.org/10.2147/ijgm.s369021
Publikováno v:
Journal of Health Economics and Outcomes Research, Vol 6, Iss 3 (2019)
**Objectives:** To understand treatment patterns, healthcare resource utilization, and costs of care among patients with spinal muscular atrophy (SMA). **Methods:** SMA patients were identified from a large managed care population using administrati
Externí odkaz:
https://doaj.org/article/17f3e81814914b449f3eef3ead77528c
Autor:
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Publikováno v:
Nature Medicine. 28:1381-1389
Abstract SPR1NT (NCT03505099) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life. Here, we report f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37038a2de2786e3da3e22751395b0bb6
https://doi.org/10.1038/s41591-022-01866-4
https://doi.org/10.1038/s41591-022-01866-4
Autor:
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Publikováno v:
Nature Medicine. 28:1390-1397
Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50df77c2956542a6122fa86803ff494d
https://doi.org/10.1038/s41591-022-01867-3
https://doi.org/10.1038/s41591-022-01867-3
Autor:
Michelle L. Mellion, Per Widholm, Markus Karlsson, André Ahlgren, Rabi Tawil, Kathryn R. Wagner, Jeffrey M. Statland, Leo Wang, Perry B. Shieh, Baziel G.M. van Engelen, Joost Kools, Lucienne Ronco, Adefowope Odueyungbo, John Jiang, Jay J. Han, Maya Hatch, Jeanette Towles, Olof Dahlqvist Leinhard, Diego Cadavid
Publikováno v:
Neurology, 99, E877-E889
Neurology, 99, 9, pp. E877-E889
Neurology, 99, 9, pp. E877-E889
Background and ObjectivesFacioscapulohumeral muscular dystrophy (FSHD) is a rare, debilitating disease characterized by progressive muscle weakness. MRI is a sensitive assessment of disease severity and progression. We developed a quantitative whole-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::682af05da5705ffb348de48a46859ace
https://doi.org/10.1212/wnl.0000000000200757
https://doi.org/10.1212/wnl.0000000000200757