Results 141 to 150 of about 73,251 (284)

Quantitative ultrasound assessment of Duchenne muscular dystrophy using edge detection analysis [PDF]

, 2016
Aarnink, Arai, Bhansing, Bickerstaffe, Boland, Bushby, Bushby, Canny, Chen, Emery, Gudmundsson, Hammoude, Hoffman, Hou, Jansen, Janssen, Mahmoud, Mazzone, Mazzone, McDonald, Peters, Pillen, Pillen, Rutkove, Schreiber, Shklyar, Torriani, Wu, Zaidman, Zaidman, Zwehl   +30 more
core   +2 more sources

ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru, Marion Onnée, Sergey Nikitin, Amelia Dobrescu, Gianmarco Severa, Aysylu Murtazina, Andoni Urtizberea, Jean‐Pascal Lefaucheur, Robert‐Yves Carlier, Corinne Metay, Edoardo Malfatti   +10 more
wiley   +1 more source

Bilateral Perifoveal Macular Ischemia in Non-proliferative Duchenne Muscular Dystrophy-associated Retinopathy: A Case Report [PDF]

Rodrigo Hideharo Sato, Mirella Telles Salgueiro Barboni, Gustavo Sakuno, Alódia Brasil, Sarah Leonardo Dias, E. Zanoteli, Dora Fix Ventura, Leandro Cabral Zacharias   +7 more
openalex   +1 more source

Acoustic radiation force impulse shear wave elastography quantifies upper limb muscle in patients with Duchenne muscular dystrophy

, 2023
Chia-Wei Lin, Jeng‐Yi Shieh, Po‐Hsiang Tsui, Chia‐Ling Chen, Chun-Hao Lu, Yi-Hsuan Hung, H.K. Lee, Wen‐Chin Weng, Susan Shur‐Fen Gau   +8 more
openalex   +1 more source

Targeting a therapeutic LIF transgene to muscle via the immune system ameliorates muscular dystrophy. [PDF]

, 2019
Many potentially therapeutic molecules have been identified for treating Duchenne muscular dystrophy. However, targeting those molecules only to sites of active pathology is an obstacle to their clinical use.
Bertoni, Carmen, Flores, Ivan, Ramos, Julian, Tidball, James G, Wang, Ying, Wehling-Henricks, Michelle, Welc, Steven S   +6 more
core  

Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection [PDF]

, 2015
Mónica Anaya-Segura, Froylan Garcia‐Martínez, Luis Montes‐Almanza, Benjamín Gómez‐Díaz, Guillermina Ávila, Ikuri Álvarez-Maya, Ramón Mauricio Coral‐Vázquez, Paul Mondragón‐Terán, Rosa Elena Escobar‐Cedillo, Noemí García-Calderón, Norma Alejandra Vázquez-Cárdenas, Silvia García, Luz Berenice López-Hernández   +12 more
openalex   +1 more source

Neuromuscular and neuromechanical assessments of respiratory performance in the mdx mouse model of Duchenne muscular dystrophy across the natural history of disease

Experimental Physiology, Volume 111, Issue 4, Page 2279-2307, 1 April 2026.
Abstract Duchenne muscular dystrophy (DMD) is a severe life‐limiting X‐linked neuromuscular disorder characterised by progressive skeletal muscle degeneration and respiratory failure. The mdx mouse, lacking dystrophin, is the most widely used preclinical model of DMD, yet the trajectory of respiratory dysfunction in this model remains incompletely ...
Michael N. Maxwell, Christopher G. Wilson, Mai K. Elmallah, Federica Trucco, Ken D. O'Halloran   +4 more
wiley   +1 more source

Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP

JCI Insight
Skeletal muscle wasting results from numerous pathological conditions affecting both the musculoskeletal and nervous systems. A unifying feature of these pathologies is the upregulation of members of the E3 ubiquitin ligase family, resulting in increased
Avnika A. Ruparelia, Margo Montandon, Jo Merriner, Cheng Huang, Siew Fen Lisa Wong, Carmen Sonntag, Justin P. Hardee, Gordon S. Lynch, Lee B. Miles, Ashley Siegel, Thomas E. Hall, Ralf B. Schittenhelm, Peter D. Currie   +12 more
doaj   +1 more source

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

Mena Scavina, Nate Posner, Patricia Dorling, A.K. Talaga, Anna Stachel, José Alvir   +5 more
openalex   +1 more source

Melatonin treatment normalizes plasma pro‐inflammatory cytokines and nitrosative/oxidative stress in patients suffering from Duchenne muscular dystrophy

, 2010
Mariam Chahbouni, Germaine Escames, Carmen Venegas, B. Sevilla, José Antonio García García, Luís C. López, Antonio Muñoz‐Hoyos, Antonio Molina‐Carballo, Darío Acuña‐Castroviejo   +8 more
openalex   +2 more sources