Results 151 to 160 of about 39,875 (271)

Burden of Duchenne muscular dystrophy in Australia: a scoping review

Background Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder characterised by progressive muscle degeneration leading to severe disability and early mortality, with no cure.
Kim, Hansoo, Choi, Seulki, Lee, Eugene
core   +1 more source

Ryanodine Receptor Ca2+ Leak‐Induced Redistribution of Ca2+ in Dystrophic mdx Mouse Muscle

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The dystrophic mdx mouse is a widely used model of Duchenne muscular dystrophy. Altered Ca2+ handling is a key feature, including increased Ca2+ leak through the ryanodine receptor (RyR1's), the primary Ca2+ release channel in skeletal muscle. Such leak has important downstream consequences for intracellular Ca2+ homeostasis.
Rhayanna B. Gaglianone, Cedric R. Lamboley, Taylor Dick, Aldo Meizoso‐Huesca, Daniel P. Singh, Bradley S. Launikonis   +5 more
wiley   +1 more source

Pharmacotherapy of Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy (DMD) is a severe, progressive neuromuscular disorder caused by mutations in the DMD gene, leading to the absence of functional dystrophin protein.
Poornachandran, Deepti Nirja
core  

Correction: Impact of C4BPA on Muscle progenitor cell differentiation: insights for Duchenne muscular dystrophy treatment. [PDF]

Cell Death Dis
Fernández-Simón E, Tejedera-Villafranca A, Fernández-Garabay X, Clark J, Katsikis P, Mehra P, Galloway A, Monceau A, Villalobos E, Cox D, Ramón-Azcón J, Fernández-Costa JM, Díaz-Manera J.   +12 more
europepmc   +1 more source

Current and prospective treatment of Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a serious condition of genetic origin that is passed down in the X-linked manner and that mainly afflicts boys. It is the result of a steady muscle tissue degeneration caused by mutations in the dystrophin gene on the
Rodriguez, Isaac
core  

Cardiac MRI in cardiac dystrophinopathy: recommendations on imaging. [PDF]

Open Heart
McDiarmid A, Augustine D, Coats C, Myerson SG, Hughes M, Villa C, Soslow J, Kadhim K, Kerr A, Kuhwald L, Sado DM, Swoboda P, Turner C, Guglieri M, Bourke J, Members of the CMR focus group of DMD Care UK.   +15 more
europepmc   +1 more source

Correction: Incremental Disease Burden (Healthcare Costs and Resources) of Duchenne Muscular Dystrophy in the US: A Matched Cohort Analysis. [PDF]

Pharmacoecon Open
Scavina M, Posner N, Dorling P, Talaga A, Stachel A, Alvir J.   +5 more
europepmc   +1 more source

Transition to adulthood in Duchenne Muscular Dystrophy: a systematic review with narrative synthesis on health systems, policies, and the role of health care providers. [PDF]

Front Public Health
Friedrich S, Willems J, Rodger S, Petropoulos JA, Ringer D, Wang E, Frei J, Pozniak K, Swain A, Guastafierro E, Marcassoli A, Trucco G, Mazzilli A, Reeskau G, De Angelis F, Osman H, Fournier A, Gutierrez Rojas RG, Gorter JW, Moroni I, Leonardi M, Nardocci N, Kraus de Camargo O, Langer T.   +23 more
europepmc   +1 more source

Duane Retraction Syndrome in Duchenne Muscular Dystrophy

, 2015
Patients with Duchenne muscular dystrophy (DMD) almost always have clinically normal eye movements, although two DMD patients have been described previously with Duane retraction syndrome (DRS), the most common congenital cranial dysinnervation disorder (
Thomas M. Bosley; Mustafa A. M. Salih; Darren T. Oystreck; Khaled K. Abu-Amero
core  

Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports. [PDF]

World J Clin Pediatr
Pongsakornkullachart P, Chanvanichtrakool M, Dhachpramuk D, Pho-Iam T, Yongwattana N, Kulsirichawaroj P, Tanboon J, Sanmaneechai O.   +7 more
europepmc   +1 more source