Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Cuixia Tian"'
Autor:
Aravindhan Veerapandiyan, Anne M. Connolly, Katherine D. Mathews, Stanley Nelson, Craig McDonald, Richard S. Finkel, Vettaikorumakankav Vedanarayanan, Cuixia Tian, Susan Apkon, Julie A. Parsons, Jonathan H. Soslow, William Bryan Burnette, Kaitlin Y. Batley, Susan T. Iannaccone, Carolina Tesi Rocha, Kevin M. Flanigan, Diana Bharucha‐Goebel, Sarah Wright, Migvis Monduy, Simona Treidler, Ashutosh Kumar, Nancy L. Kuntz, Vamshi K. Rao, Rachel Schrader, Saunder M. Bernes, Vikki Ann Stefans, Jena M. Krueger, Marcia V. Felker, Omer Abdul Hamid, Arpita Lakhotia, Susan Matesanz, Partha S. Ghosh, Natalie Katz, Hoda Abdel‐Hamid, Chamindra G. Laverty, Bo Hoon Lee, Amy Harper, Leigh Ramos‐Platt, Diana Castro, Russell J. Butterfield, Crystal M. Proud, Craig M. Zaidman, Emma Ciafaloni
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 3, Pp 184-188 (2024)
Externí odkaz:
https://doaj.org/article/df1cf7b52fa3423cafb1b07b7a03d530
Autor:
Andrea Breaux, Sean M. Lang, Samuel Wittekind, Thomas D. Ryan, Michael Taylor, Eleanor Greiner, Cuixia Tian, Jennifer Kasten, Hemant Sawnani, Chet R. Villa
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 22 (2024)
Externí odkaz:
https://doaj.org/article/d8ce43164dbc48d6af7fbf183a423224
Autor:
Brenda L. Wong, Suzanne Summer, Paul S. Horn, Meilan M. Rutter, Irina Rybalsky, Cuixia Tian, Karen C. Shellenbarger, Heidi J. Kalkwarf
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 6, Pp 2804-2812 (2023)
Abstract Introduction Mutations in the 79 exons of the dystrophin gene result in muscle wasting and weakness of varying clinical severity, ranging from severe/typical Duchenne muscular dystrophy (DMD) to intermediate DMD and mild Becker muscular dyst
Externí odkaz:
https://doaj.org/article/d225de2543e6495f8c6f65c5c09752d1
Autor:
Francesco Muntoni, James Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Erik H Niks, Brenda Wong, Krista Vandenborne, Volker Straub, Imelda J M de Groot, Cuixia Tian, Adnan Manzur, Ibrahima Dieye, Henry Lane, Susan J Ward, Laurent Servais, PRO-DMD-01 study investigators, Association Française contre les Myopathies, UK NorthStar Clinical Network, ImagingDMD investigators, cTAP
Publikováno v:
PLoS ONE, Vol 19, Iss 7, p e0304984 (2024)
Evaluations of treatment efficacy in Duchenne muscular dystrophy (DMD), a rare genetic disease that results in progressive muscle wasting, require an understanding of the 'meaningfulness' of changes in functional measures. We estimated the minimal de
Externí odkaz:
https://doaj.org/article/0cdc19d226b54599940b6eaa426e1e89
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, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract 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 ut
Externí odkaz:
https://doaj.org/article/b1991b15576f4babafe571cf86344cff
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Background Dystrophinopathies are X‐linked recessive conditions caused by pathogenic variants in the dystrophin (DMD) gene. In a family that included two boys with Becker muscular dystrophy (BMD) due to a DMD deletion of exons 45–47, mat
Externí odkaz:
https://doaj.org/article/cc6fc4e33a2c49628dd776c9d433586d
Autor:
Coralie Hakibilen, Florence Delort, Marie-Thérèse Daher, Pierre Joanne, Eva Cabet, Olivier Cardoso, Fany Bourgois-Rocha, Cuixia Tian, Eloy Rivas, Marcos Madruga, Ana Ferreiro, Alain Lilienbaum, Patrick Vicart, Onnik Agbulut, Sylvie Hénon, Sabrina Batonnet-Pichon
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Cellular adhesion and migration are key functions that are disrupted in numerous diseases. We report that desmin, a type-III muscle-specific intermediate filament, is a novel cell adhesion regulator. Expression of p.R406W mutant desmin, identified in
Externí odkaz:
https://doaj.org/article/12b77063322b48c8ba1ebb36cdf0aadb
Autor:
Sarah E. Henson, Sean M. Lang, Philip R. Khoury, Cuixia Tian, Meilan M. Rutter, Elaine M. Urbina, Thomas D. Ryan, Michael D. Taylor, Tarek Alsaied
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 19 (2021)
Background Patients with Duchenne muscular dystrophy (DMD) develop cardiomyopathy because of a dystrophin deficiency causing fibrofatty replacement of the myocardium. Corticosteroid use and mobility limitations place these patients at risk for increa
Externí odkaz:
https://doaj.org/article/e81b60a0ab114e499b74961acd17e966
Publikováno v:
Neurology: Genetics; Aug2024, Vol. 10 Issue 4, p1-5, 5p
Autor:
Anne M. Connolly, Craig M. Zaidman, John F. Brandsema, Han C. Phan, Cuixia Tian, Xueping Zhang, Jack Li, Mark D. Eisner, Ewa Carrier
Publikováno v:
Journal of Neuromuscular Diseases. :1-15
BACKGROUND: Duchenne muscular dystrophy (DMD) is a neuromuscular disease stemming from dystrophin gene mutations. Lack of dystrophin leads to progressive muscle damage and replacement of muscle with fibrotic and adipose tissue. Pamrevlumab (FG-3019),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c309bab1330d28510e2abd0cebb430fa
https://doi.org/10.3233/jnd-230019
https://doi.org/10.3233/jnd-230019