Results 121 to 130 of about 19,684 (296)

Five‐Year Outcomes With Delandistrogene Moxeparvovec in Patients With Duchenne Muscular Dystrophy: A Phase 1/2a Study

Muscle &Nerve, EarlyView.
ABSTRACT Aims We report 5‐year results from a phase 1/2a study of delandistrogene moxeparvovec, a recombinant adeno‐associated virus serotype rh74 vector‐based gene therapy for Duchenne muscular dystrophy (DMD), with post hoc analyses contextualizing functional outcomes. Methods Four ambulatory patients with DMD (≥ 4–< 8 years at enrollment) entered an
Jerry R. Mendell, Zarife Sahenk, Linda P. Lowes, Megan A. Iammarino, Lindsay N. Alfano, Craig M. McDonald, James E. Signorovitch, Jim Jin, Jing Li, Stefanie Mason, Louise R. Rodino‐Klapac   +10 more
wiley   +1 more source

Walsh & Hoyt: Congenital Muscular Dystrophies

, 2005
A number of patients have dystrophic muscle pathology associated with symptoms that are present at birth and a variable clinical course. These patients are said to have congenital muscular dystrophy (CMD). CMD is by no means rare. Rospide et al. believed
Paul H. Phillips, MD
core  

Optimizing Care for Growth and Puberty in Duchenne Muscular Dystrophy: A Survey of Clinical Practice in the OPTIMIZE DMD Consortium

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aim Optimizing Management of Endocrine Complications in Duchenne Muscular Dystrophy (OPTIMIZE DMD) is an international consortium of clinicians created to advance endocrine and bone clinical care in DMD. The aim of this study was to better understand current views and practices regarding investigation and management of growth and ...
Claire L. Wood, Funmbi Babalola, Robert W. Benjamin, Carol Lam, Laura McAdam, Stefan Nicolau, Anne Marie Sbrocchi, Mena Scavina, Julia C. Sorbara, Alexandra Ahmet, Susan Apkon, Sonum Bharill, Melissa Fiscaletti, Kathi Kinnett, Hugh J. McMillan, Nadia Merchant, Nat Nasomyont, Maria Fernanda Ochoa Molina, Nora E. Renthal, Pamela Smith, Prasanth N. Surampudi, Jaclyn G. Tamaroff, Cuixia Tian, Leanne M. Ward, David R. Weber, Sze Choong (Jarod) Wong, Janet L. Crane, Meilan M. Rutter, on behalf of the OPTIMIZE DMD Consortium, Leanne M. Ward, Pat Furlong, David R. Weber, Sze Choong (Jarod) Wong, Hugh J. McMillan, Meilan M. Rutter, Susan Apkon, Roozbeh Pourziaei Manesh, Mei Wang, Anne Marie Sbrocchi, David R. Weber, Alexandra Ahmet, Aravindhan Veerapandiyan, Medical Sciences, Hugh J. McMillan, Sze Choong (Jarod) Wong, Kathryn A. Selby, Maria‐Elena Lautatzis, Rachel Schrader, Kathi Kinnett, Meilan M. Rutter, Claire L. Wood, Anne Marie Sbrocchi, Carol Lam, Funmbi Babalola, Janet L. Crane, Julia C. Sorbara, Laura McAdam, Robert Benjamin, Stefan Nicolau, Mena Scavina, Leanne M. Ward, Sze Choong (Jarod) Wong, Kim Phung, Nat Nasomyont, Anne Marie Sbrocchi, Cuixia Tian, David R. Weber, Janet L. Crane, Maria Fernanda Ochoa Molina, Meilan M. Rutter, Melissa Fiscaletti, Nadia Merchant, Paula R. Clemens, Rana Halloun, Shipra Bansal, Stefan Nicolau, Pat Furlong, Susan Apkon, Nora E. Renthal, Amanda M. Appel, Aravind Veerapandiyan, Medical Sciences, Claire L. Wood, Gabriela Vargas, Lindsey E. Bratland, Nat Nasomyont, Natalie Truba, Prasanth N. Surampudi, Janet Hoskin, Colin Werth, Patrick Moeschen, Nadia Merchant, Jaclyn Tamaroff, Christopher Lewis, Cuixia Tian, Diana X. Bharucha‐Goebel, Philip Zeitler, Laura McAdam, Maria‐Elena Lautatzis, Meilan M. Rutter, Ryan Farrell, Rainbow Babies, Rana Halloun, Sonum Bharill, Sze Choong (Jarod) Wong, Pat Furlong, Luca Bello, Chiara Panicucci, Clelia Cipolla, Danilo Fintini, Natascia Di Iorgi, Child Health, Sabrina Corbetta, Francesca Cumbo, Alberto Ferlin, Francesco Francini, Luisa De Sanctis, Tommaso Aversa, Gianluca Tornese, Burlo Garofolo, Eugenio Maria Mercuri, Elena Mularoni, Maria Grazia D'Angelo, Bosisio Parini, Chiara Arpaia, Silvia Carrara, Pieve Emanuele, Ilaria Zito, Fernanda de Angelis, Fabiana Boccia, Gaia Relucenti, Filippo Buccella   +131 more
wiley   +1 more source

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies. [PDF]

J Pathol
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Heezen LG, Mao Q, Nicolau S, Rausell CN, van der Weerd J, Kueckelhaus J, Gokul Nath R, Diaz-Manera J, Kan HE, Niks EH, van Putten M, Aartsma-Rus A, Flanigan KM, Mahfouz A, Spitali P.   +14 more
europepmc   +2 more sources

Psychosocial Determinants of Pain in Muscle Biopsy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Open muscle biopsy (OMB) is a key diagnostic tool for neuromuscular diseases, though patients often worry about risks and discomfort. This study aimed to assess pain during and after OMB, factors influencing pain perception, and adverse events.
Beatrice Labella, Emmanuelle Lacene, Maud Beuvin, Anaïs Chanut, Angeline Madelaine, Favienne Levy‐Borsato, Guy Brochier, Clémence Labasse, Guillaume Bassez, Danielle Seilhean, Sarah Leonard‐Louis, Teresinha Evangelista   +11 more
wiley   +1 more source

The Muscular Dystrophies: From Genes to Therapies

, 2005
The genetic basis of many muscular disorders, including many of the more common muscular dystrophies, is now known. Clinically, the recent genetic advances have improved diagnostic capabilities, but they have not yet provided clues about treatment or ...
Neil C Porter, Robert J Bloch, Richard M Lovering   +2 more
core   +1 more source

Quantitative MRI Assessment of Myotoxin‐Induced Skeletal Muscle Damage of mdx Mice

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Although magnetic resonance imaging (MRI) has been extensively applied in dystrophic muscle, longitudinal characterization of multiple quantitative MRI parameters during degeneration and regeneration remains limited. This study aimed to longitudinally characterize changes in quantitative MRI parameters in control and ...
Ravneet Vohra, Joshua Park, Feng Zhang, Jeffrey S. Chamberlain, Donghoon Lee   +4 more
wiley   +1 more source

Muscular dystrophies and congenital myopathies in childhood

, 2011
Muscular dystrophies and congenital myopathies in childhood. Muscular dystrophies and congenital myopathies often produce a similar clinical picture of muscle weakness and atrophy.
Tulinius, Mar,, Darin, Niklas,, Thorarinsdottir, Brynja Kristin,   +2 more
core  

Review: Dystroglycan in the Nervous System

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +1 more source

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson, Katie Mellor, Nicole Kilburn, Ryan Fischer, Natalie Aldhouse, Chris Marshall, Tamara Al‐zubeidi   +6 more
wiley   +1 more source