Results 181 to 190 of about 106,524 (297)

Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, Volume 67, Issue 10, Page 1280-1289, October 2025.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H. Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network, Francesco Muntoni, on behalf of the iMDEX Network, Joana Domingos, Victoria Selby, Amy Wolfe, Lianne Abbott, Efthymia Panagiotopoulou, Mario Iodice, Maria Ash, Imelda de Groot, Merel Jansen, Maaike Pelsma, Marian Bobbert, Menno Van Der Holst, Yvonne D. Krom, Marjolein J. van Heur‐Neuman, Thomas Voit, Valérie Decostre, Stéphanie Gilabert, Michela Guglieri, Alexander Murphy, Anna Mayhew, Mariacristina Scoto, Anna Sarkozy, Pinki Munot, Stephanie Robb, Elaine Chan, V Robinson, W Girshab, V Crook, E Milev, L Abbott, A Wolfe, E O’Reilly, J Watts‐When, N Burnett, R Thomas, R Terespolsky, O Martinaeu, J Longatto, C Bettolo, M Guglieri, J Diaz‐Manera, G Tasca, M Elseed, R Muni‐Lofra, M James, D Moat, J Sodhi, K Wong, E Robinson, E Groves, R Rabb, H McMurchie, H Chase, Tracey Willis, C Rylance, N Birchall, E Wright, A Childs, K Pysden, C Martos, D Roberts, L. Pallant, S Walker, A Henderson, R Madhu, R Karuvattil, Y Balla, S Gregson, S Clark, E Wraige, H Jungbluth, V Gowda, M Vanegas, J. Sheehan, A Schofield, C Smith, I Hughes, E Whitehouse, S Warner, E Reading, N Emery, J Moustoukas, K Strachan, M Ong, M Atherton, N Mills, S Sanchez Marco, A Saxena, K Skone, J TeWaterNaude, H Davis, C Wood, A Majumdar, A Murugan, I Guarino, R Tomlinson, H Jarvis, L Wills, C Frimpong, J Watson, G Cobb, G Robertson, P Brink, J Burslem, C Adams, J Wong, S Joseph, I Horrocks, J Dunne, M DiMarco, S Brown, S McKenzie, K Torne, R Mohamed, V Velmurugan, M Prasad, S Sedehizadeh, A Schugal, R Keetley, S Williamson, K Payne, E Dowling, P Fenty, C de Goede, A Parkes, K Baxter, M Illingworth, N Bhangu, S Geary, J Palmer, K Shill, S Tirupathi, A Shah, D O’Donogue, J McVeigh, J McFetridge, G Nicfhirleinn, H Beattie, T Leyland, K Stevenson, N Hussain, D Baskaran, Z Lambat, R Sullivan, L Locke, G Ambegaonkar, D Krishnakumar, J Taylor, J Moores, E Stephen, J Tewnion, S Ramdas, M Sa, A Skippen, M Khries, C Lilien, H Ramjattan, F Taylor, H English, K Stewart, F Flint, E Bartram, R Noble   +176 more
wiley   +1 more source

Burden of Duchenne muscular dystrophy in Australia: a scoping review. [PDF]

BMJ Neurol Open
Lee E, Choi S, Kim H.
europepmc   +1 more source

Stress exposure in the mdx mouse model of Duchenne muscular dystrophy provokes a widespread metabolic response

The FEBS Journal, Volume 292, Issue 19, Page 5067-5085, October 2025.
Duchenne muscular dystrophy is a severe neuromuscular wasting disease that is caused by a primary defect in dystrophin protein. A targeted mass‐spectrometry‐based metabolomics assay was conducted to identify the impact of stress exposure on the regulation of biological stress pathways in the mdx mouse model of Duchenne muscular dystrophy.
Erynn E. Johnson, James M. Ervasti
wiley   +1 more source

Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model

The FEBS Journal, Volume 292, Issue 20, Page 5525-5539, October 2025.
A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng, Kevin A. Strauss, Jian‐Ping Jin   +2 more
wiley   +1 more source

Isolated Transaminitis as a Sentinel Sign of Duchenne Muscular Dystrophy in an Infant: A Case Report. [PDF]

Cureus
Khalid A, Chaudhry T, Liaqat A, Tufts L.
europepmc   +1 more source

Duchenne Muscular Dystrophy [PDF]

Journal of Medical Genetics, 1988
openaire   +3 more sources

A Qualitative Examination of the Content Validity of the EQ‐5D‐5L and EQ‐5D‐Y‐3L in Adult and Paediatric Patients With Duchenne Muscular Dystrophy

Health Expectations, Volume 28, Issue 5, October 2025.
ABSTRACT Objective This study examined the content validity of EQ‐5D for Chinese patients with DMD. Specifically, it investigated: (1) the content validity of EQ‐5D‐5L in adult DMD patients and (2) the content validity of EQ‐5D‐Y‐3L (Y‐3L) in DMD patients aged 8–15 years.
Richard Huan Xu, Rui Jiang, Chenxi Yang, Dong Dong   +3 more
wiley   +1 more source

The Landscape of SPP1 + Macrophages Across Tissues and Diseases: A Comprehensive Review

Immunology, Volume 176, Issue 2, Page 179-196, October 2025.
SPP1+ macrophages represent a conserved, disease‐associated population present across cancerous and non‐cancerous conditions, involved in immunosuppression, fibrosis, lipid metabolism, phagocytosis, and other cellular processes. This review highlights their shared molecular programmes across tissues, their interactions with stromal and immune cells ...
Alessandro Palma
wiley   +1 more source

Large-scale serum protein biomarkers discovery associated with function and clinical milestones in Duchenne muscular dystrophy. [PDF]

Nat Commun
Ikelaar NA, Barnard AM, Eng SWM, Hosseini Vajargah S, Ha KCH, Kan HE, Vandenborne K, Niks EH, Walter GA, Spitali P.   +9 more
europepmc   +1 more source

From fibro/adipogenic progenitors to adipocytes: Understanding adipogenesis in muscle degeneration for disease modulation

The Journal of Physiology, Volume 603, Issue 19, Page 5273-5297, October 1, 2025.
Abstract figure legend Fibro/adipogenic progenitors (FAPs) are cells resident in the muscle (skeletal and cardiac) niche. FAPs are active participants in the process of muscle degeneration in cardiovascular and neuromuscular diseases. Here, the accumulation of fatty and fibrous tissue is a hallmark.
Elisa Villalobos, Priyanka Mehra, Jordi Diaz‐Manera   +2 more
wiley   +1 more source