Results 31 to 40 of about 19,247 (225)

Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V, Betts, C A, Gait, M J, Godfrey, C, Hammond, S M, Healicon, R, Manzano, R, McClorey, G, Merritt, T M, Muses, S, O'Donovan, L, Tyler, D, Wells, D J, Wells, K E, Westering, T, Wood, M J   +15 more
core   +3 more sources

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

PLoS ONE, 2016
Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction
Narinder Janghra, Jennifer E Morgan, Caroline A Sewry, Francis X Wilson, Kay E Davies, Francesco Muntoni, Jonathon Tinsley   +6 more
doaj   +1 more source

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

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]

, 2013
Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core   +3 more sources

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. [PDF]

, 2019
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Barthélémy, Florian, Douine, Emilie D, Hsu, Christopher, Marcantonio, Eugene E, Miceli, M Carrie, Nelson, Stanley F, Wang, Richard T   +6 more
core   +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

Genetic modifiers of ambulation in the cooperative international Neuromuscular Research Group Duchenne natural history study [PDF]

, 2015
OBJECTIVE: We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.
Andreone, Luz, Bello, Luca, Cnaan, Avital, Cooperative International Neuromuscular Research Group Investigators, Dubrovsky, Alberto, Duong, Tina, Gordish Dressman, Heather, Henricson, Erik K., Hoffman, Eric P., Kesari, Akanchha, McDonald, Craig M., Morgenroth, Lauren P., Pegoraro, Elena, Punetha, Jaya   +13 more
core   +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

Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]

, 2018
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne, Crawford, Thomas O, Darras, Basil, Day, John, Finkel, Richard, Glascock, Jacqueline, Haidet-Phillips, Amanda, Howell, R. Rodney, Jarecki, Jill, Ker, Douglas, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Sampson, Jacinda, Shieh, Perry B   +14 more
core   +2 more sources

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