Results 41 to 50 of about 54,841 (223)

Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.

Stem Cell Research, 2020
Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD is generally less severe than Duchenne Muscular Dystrophy.
Davide Rovina, Elisa Castiglioni, Francesco Niro, Andrea Farini, Marzia Belicchi, Elisabetta Di Fede, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Yvan Torrente, Rosaria Santoro, Giulio Pompilio, Aoife Gowran   +12 more
doaj   +1 more source

Multi‐parametric MR in Becker muscular dystrophy patients

NMR in Biomedicine, 2020
Quantitative MRI and MRS of muscle are increasingly being used to measure individual pathophysiological processes in Becker muscular dystrophy (BMD).
M. Hooijmans, M. Froeling, Z. Koeks, J. Verschuuren, A. Webb, E. Niks, H. Kan   +6 more
semanticscholar   +1 more source

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy

BMC Medical Genetics, 2019
BackgroundDuchenne Muscular Dystrophy (DMD) is the most common muscle disease in children, and there are no effective therapies for DMD or Becker Muscular Dystrophy (BMD). Currently, targeted gene therapy treatments have emerged.
X. Kong, Xingjian Zhong, Li'na Liu, S. Cui, Yuxia Yang, L. Kong   +5 more
semanticscholar   +1 more source

Health Care Use of Cardiac Specialty Care in Children With Muscular Dystrophy in the United States

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Duchenne and Becker muscular dystrophy are progressive disorders associated with cardiac mortality. Guidelines recommend routine surveillance; we assess cardiac resource use and identify gaps in care delivery. Methods and Results Male patients,
Erika J. Mejia, Kimberly Y. Lin, Oluwatimilehin Okunowo, Katherine A. Iacobellis, Susan E. Matesanz, John F. Brandsema, Carol A. Wittlieb‐Weber, Hannah Katcoff, Heather Griffis, Jonathan B. Edelson   +9 more
doaj   +1 more source

Urinary incontinence in men with Duchenne and Becker muscular dystrophy

PLoS ONE, 2020
The prevalence of urinary incontinence in Duchenne and Becker muscular dystrophy (D/BMD) is reported to be between 15–29%, this however includes ages across the lifespan, and with no description of impact on daily life.
C. Morse, Kate Higham, E. L. Bostock, Matthew F. Jacques   +3 more
semanticscholar   +1 more source

Morpholino Oligomer-Induced Dystrophin Isoforms to Map the Functional Domains in the Dystrophin Protein

Molecular Therapy: Nucleic Acids, 2020
Dystrophin plays a crucial role in maintaining sarcolemma stability during muscle contractions, and mutations that prevent the expression of a functional protein cause Duchenne muscular dystrophy (DMD).
Dunhui Li, Abbie M. Adams, Russell D. Johnsen, Susan Fletcher, Steve D. Wilton   +4 more
doaj   +1 more source

Quantitative Muscle MRI as Outcome Measure in Patients With Becker Muscular Dystrophy—A 1-Year Follow-Up Study

Frontiers in Neurology, 2021
Introduction: With the advent of emerging molecular therapies for muscular dystrophies, the need for knowledge about natural history course of such diseases is of utmost importance in the preparation for future trials.
Aisha M. Sheikh, Karen Rudolf, Nanna Witting, John Vissing   +3 more
doaj   +1 more source

Cardiac involvement in becker muscular dystrophy

Journal of the American College of Cardiology, 1993
The purpose of this study was to assess the incidence of myocardial involvement and the relation of cardiac disease to the molecular defect at the deoxyribonucleic acid (DNA) or protein level in Becker muscular dystrophy.Dystrophin gene mutations produce clinical manifestations of disease in the heart and skeletal muscle of patients with Becker ...
MELACINI, PAOLA, FANIN, MARINA, DANIELI, GIAN ANTONIO, FASOLI, GIUSEPPE, Villanova C, ANGELINI, CORRADO, VITIELLO, LIBERO, Miorelli M, BUJA, GIANFRANCO, MOSTACCIUOLO, MARIA LUISA, PEGORARO, ELENA, DALLA VOLTA, SERGIO   +11 more
openaire   +3 more sources

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

Nature Communications, 2016
Muscular Dystrophy can be caused by mutations in the dystrophingene, causing the severe Duchenne form or the mild Becker form depending on if the transcript is in or out-of-frame.
J. Martone, F. Briganti, I. Legnini, M. Morlando, E. Picillo, O. Sthandier, L. Politano, I. Bozzoni   +7 more
doaj   +1 more source

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

Pharmaceuticals, 2015
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy.
Akinori Nakamura
doaj   +1 more source