A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

Autor: Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sánchez‐Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bönnemann

Publikováno v: Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)

Abstract Objective FHL1‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1‐related reducing bo

Externí odkaz: https://doaj.org/article/35a339c466cb40e8a5e21cd005acc393

Nusinersen injections in adults and children with spinal muscular atrophy: a single-center experience

Autor: Can Özütemiz, Peter Karachunski, David R. Nascene

Publikováno v: Diagnostic and Interventional Radiology, Vol 26, Iss 6, Pp 596-602 (2020)

PurposeNusinersen is a drug approved in December 2016 for treatment of spinal muscular atrophy (SMA). We want to share our initial experience with image-guided, non-image-guided, and port-delivered nusinersen injections in a large single-center SMA p

Externí odkaz: https://doaj.org/article/2f4b382ff35047c7b9c7dd666ad99644

Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

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

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

Autor: Craig M McDonald, Erik K Henricson, Richard T Abresch, Tina Duong, Nanette C Joyce, Fengming Hu, Paula R Clemens, Eric P Hoffman, Avital Cnaan, Heather Gordish-Dressman, Vijay Vishwanathan, S Chidambaranathan, W. Douglas Biggar, Laura C. McAdam, Jean K. Mah, Mar Tulinius, Lauren P. Morgenroth, Robert Leshner, Carolina Tesi-Rocha, Mathula Thangarajh, Andrew Kornberg, Monique Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R. Clemens, Hoda Abdel-Hamid, Anne M. Connolly, Alan Pestronk, Jean Teasley, Tulio E. Bertorin, Richard Webster, Hanna Kolski, Nancy Kuntz, Sherilyn Driscoll, John B. Bodensteiner, Jose Carlo, Ksenija Gorni, Timothy Lotze, John W. Day, Peter Karachunski, Erik K. Henricson, Richard T. Abresch, Nanette C. Joyce, Craig M. McDonald

Publikováno v: Lancet (London, England). 391(10119)

Glucocorticoid treatment is recommended as a standard of care in Duchenne muscular dystrophy; however, few studies have assessed the long-term benefits of this treatment. We examined the long-term effects of glucocorticoids on milestone-related disea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f38415fc2e2d875fa6336a65f6e45c
https://pubmed.ncbi.nlm.nih.gov/29174483