Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Hoda Z Abdel-Hamid"'
Autor:
Sarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, Gyula Acsadi, John Brandsema, Emma Ciafaloni, Basil T Darras, Susan T Iannaccone, Chamindra G Konersman, Nancy L Kuntz, Craig M McDonald, Julie A Parsons, Carolina Tesi Rocha, Craig M Zaidman, Russell J Butterfield, Anne M Connolly, Katherine D Mathews
Publikováno v:
PLoS ONE, Vol 15, Iss 10, p e0240687 (2020)
IntroductionDuchenne muscular dystrophy (DMD) is a childhood onset muscular dystrophy leading to shortened life expectancy. There are gaps in published DMD care guidelines regarding recently approved DMD medications and alternative steroid dosing reg
Externí odkaz:
https://doaj.org/article/6715df668b4d4feb89a01ef4461b2d2e
Autor:
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Enrico Bertini, Cuixia Tian, Jean K. Mah, Anna Kostera-Pruszczyk, Francesco Muntoni, Michela Guglieri, John F. Brandsema, Eugenio Mercuri, Russell J. Butterfield, Craig M. McDonald, Lawrence Charnas, Shannon Marraffino
Publikováno v:
Journal of Neurology. 269:4421-4435
Duchenne muscular dystrophy (DMD) is a progressive, neuromuscular disorder caused by mutations in the DMD gene that results in a lack of functional dystrophin protein. Herein, we report the use of quantitative magnetic resonance imaging (MRI) measure
Autor:
Miguel Reyes-Múgica, Jessica Sebastian, Vivek S. Peche, Jennifer Baker, Shawn C. West, Sharavana Gurunathan, Brian Feingold, Jeffrey Field, Suneeta Madan-Khetarpal, Hoda Z. Abdel-Hamid
Publikováno v:
American Journal of Medical Genetics Part A. 188:970-977
Nemaline Myopathy (NM) is a disorder of skeletal muscles caused by mutations in sarcomere proteins and characterized by accumulation of microscopic rod or thread-like structures (nemaline bodies) in skeletal muscles. Patients diagnosed with both NM a
Autor:
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Cuixia Tian, Jean K. Mah, Francesco Muntoni, Michela Guglieri, Russell J. Butterfield, Lawrence Charnas, Shannon Marraffino
Publikováno v:
Scientific reports. 12(1)
We evaluated whether whole-body dual-energy X-ray absorptiometry (DXA) measures of lean body mass can be used as biomarkers for disease progression and treatment effects in patients with Duchenne muscular dystrophy. This post hoc analysis utilized da
Publikováno v:
Neurology. 95:e1285-e1289
A 14-year-old boy with a history of atrial tachycardia presented to the emergency department with acute right foot weakness. One month prior to presentation, he had a self-resolving diarrheal illness and bacterial pneumonia treated with antibiotics.
Autor:
Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose
Publikováno v:
Paediatrics Publications
Aim: Compare efficacies of deflazacort and prednisone/prednisolone in providing clinically meaningful delays in loss of physical milestones in patients with nonsense mutation Duchenne muscular dystrophy. Materials & methods: Placebo data from Phase I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
Autor:
Sarah P, Sherlock, Jeffrey, Palmer, Kathryn R, Wagner, Hoda Z, Abdel-Hamid, Enrico, Bertini, Cuixia, Tian, Jean K, Mah, Anna, Kostera-Pruszczyk, Francesco, Muntoni, Michela, Guglieri, John F, Brandsema, Eugenio, Mercuri, Russell J, Butterfield, Craig M, McDonald, Lawrence, Charnas, Shannon, Marraffino
Publikováno v:
Journal of neurology. 269(8)
Duchenne muscular dystrophy (DMD) is a progressive, neuromuscular disorder caused by mutations in the DMD gene that results in a lack of functional dystrophin protein. Herein, we report the use of quantitative magnetic resonance imaging (MRI) measure
Autor:
Barry J. Byrne, Olga Mitelman, Sourav Santra, Jerry R. Mendell, Ashish Dugar, Anne M. Connolly, Hoda Z. Abdel-Hamid, Nathalie Goemans, Eugenio Mercuri, Peter Heydemann, Kathryn R. Wagner, Craig M. McDonald, Crystal Proud, Perry B. Shieh, James Signorovitch
Publikováno v:
Journal of neuromuscular diseases. 9(1)
BACKGROUND: Studies 4658-201/202 (201/202) evaluated treatment effects of eteplirsen over 4 years in patients with Duchenne muscular dystrophy and confirmed exon-51 amenable genetic mutations. Chart review Study 4658-405 (405) further followed these
Autor:
David, Lacomis, Hoda Z, Abdel-Hamid
Publikováno v:
Journal of Clinical Neuromuscular Disease. 20:129-134
We review the development of exon 51 skipping therapy with eteplirsen for Duchenne muscular dystrophy, including the recent report of long-term, sustained dystrophin production. Studies of the late-life health profile of patients with Duchenne muscul
Autor:
Craig M. McDonald, Kathryn R. Wagner, Erica Koenig, Jyoti Malhotra, Navid Khan, Perry B. Shieh, Promovi Trial Clinical Investigators, Baoguang Han, Hoda Z. Abdel-Hamid, Anne M. Connolly, Nathalie Goemans, Wenfei Zhang, Emma Ciafaloni, Eugenio Mercuri, Jerry R. Mendell
Publikováno v:
Journal of Neuromuscular Diseases
BackgroundEteplirsen received accelerated FDA approval for treatment of Duchenne muscular dystrophy (DMD) with mutations amenable to exon 51 skipping, based on demonstrated dystrophin production.ObjectiveTo report results from PROMOVI, a phase 3, mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d98e1fd113eb9e7f0a3d44bbc526d535
https://lirias.kuleuven.be/handle/20.500.12942/706497
https://lirias.kuleuven.be/handle/20.500.12942/706497