Results 1 to 10 of about 304,862 (304)

Implementation of a neuromuscular clinical trial network: a rare disease model for enhancing clinical trial readiness, capacity, and access in Canada

Orphanet Journal of Rare Diseases
Background Rare diseases affect over 300 million people globally, yet clinical trial conduct in rare disease populations remains complex due to small patient numbers, geographic dispersion, heterogeneous phenotypes, and limited trial infrastructure ...
Kerri Lynn Schellenberg, Homira Osman, Maria Masnata, Rhiannon Hicks, Corinne Kagan, Ana Stosic, Stacey Lintern, Erin Beattie, Hanns Lochmuller, Craig Campbell, Jean K. Mah   +10 more
doaj   +1 more source

Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na‐MRI in Dysferlinopathy and Healthy Controls

Journal of Cachexia, Sarcopenia and Muscle
Background Dysferlin plays a key role in cell membrane repair; its absence or malfunction in patients with dysferlin‐deficient limb girdle muscular dystrophy leads to muscle fibre death.
Mary A. Neal, Carla F. Bolano‐Diaz, Mark Richardson, Jassi Michell‐Sodhi, Robert Muni‐Lofra, Meredith K. James, Kieren G. Hollingsworth, Heather Hilsden, Ian Wilson, Andrew M. Blamire, Volker Straub, Peter E. Thelwall, Jordi Diaz‐Manera   +12 more
doaj   +1 more source

Complexity of matriglycan and dystroglycan expression in cancers of epithelium origin

Advances in Cancer Biology - Metastasis
O-mannosylation of alpha-dystroglycan (α-DG) results in a glycan chain terminated with repeats of xylose and glucuronic acid biglycan termed as matriglycan linking the membrane DG to extracellular proteins.
Anthony Blaeser, Elizabeth Branch, Molly C. Holbrook, Qi Lu   +3 more
doaj   +1 more source

Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol

Orphanet Journal of Rare Diseases
Introduction Neuromuscular diseases (NMDs) are rare multisystem, genetic or acquired disorders causing weakness and/or sensory loss. It is essential for governments, insurance providers, and broader society to have a better understanding of the burden of
Ian C. Smith, Yasmin Abusetah, Homira Osman, Aditi Garg, Alyssa Grant, Hanns Lochmuller, Hugh McMillan, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Stacey Lintern, Daria Wojtal, Kathy Selby, Kednapa Thavorn, Jodi Warman-Chardon   +14 more
doaj   +1 more source

Congenital Clubfoot as an Early Manifestation of Duchenne Muscular Dystrophy? [PDF]

Muscles
Kenis V, Shpulev P, Melnik E, Sosnina I, Snegova E.   +4 more
europepmc   +1 more source

A Multidisciplinary Approach to the Anesthetic Management of Patients With Duchenne Muscular Dystrophy. [PDF]

Pediatr Pulmonol
Racca F, Conti E, Racca G, Barberis L, Birnkrant DJ.   +4 more
europepmc   +1 more source

Erratum: Microdystrophins partially rescue deficits of Duchenne muscular dystrophy iPSC-cardiomyocytes. [PDF]

Mol Ther Adv
Keegan AR, Gonzalez AFGS, Zhang R, Doan H, Torres-Bigio SI, Lau F, Ly KN, Lai EC, Mamuyac LC, Bhimaraju S, Mishra A, Polen MK, Ortiz DS, Lam JH, Eguchi A.   +14 more
europepmc   +1 more source

Beyond the Diagnosis: A Comprehensive Case Report on Duchenne Muscular Dystrophy. [PDF]

Case Rep Crit Care
Shahin MAH, Asiri AA, Alotaibi AS, Majrashi H, Khubrani S, AlQarni SH, Alqurashi SS, Samti ME, AlQarni ZH.   +8 more
europepmc   +1 more source

A Registry-Based Perspective of Interventional Clinical Trials for Duchenne Muscular Dystrophy. [PDF]

Cureus
Chaudhary JH, Chacko JO, Susarla V, Kashyap Peraboina SS, Sen S.   +4 more
europepmc   +1 more source

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

Cell Death and Disease
Esther Fernández-Simón, Ainoa Tejedera-Villafranca, Xiomara Fernández-Garabay, James Clark, Panagiotis Katsikis, Priyanka Mehra, Andrew Galloway, Alexandra Monceau, Elisa Villalobos, Dan Cox, Javier Ramón-Azcón, Juan M. Fernández-Costa, Jordi Díaz-Manera   +12 more
doaj   +1 more source