Results 121 to 130 of about 68,781 (284)

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

Developmental Medicine &Child Neurology, EarlyView.
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

Duchenne muscular dystrophy - disease characterization and emergent genetic therapy - literature review

Quality in Sport
Introduction The goals of this paper are to present the complexity of Duchenne muscular dystrophy phenotype, genetic background, and substantial progress that has been made due to the development of genetic engineering techniques in diagnosing and ...
Anna Teresa Michalska, Michał Świda, Cezary Kubuj, Grzegorz Adaśko, Urszula Mazur, Jakub Bazarewicz, Marcin Siwik, Daniel Dmowski, Paulina Ogonowska, Julia Waszak   +9 more
doaj   +1 more source

Fat Embolism Syndrome in Duchenne Muscular Dystrophy Patients: Early Recognition and Aggressive Therapy

Case Reports in Critical Care, 2018
We describe two pediatric patients with Duchenne muscular dystrophy that presented with acute neurologic deterioration and hypoxic respiratory failure requiring mechanical ventilation.
Lee D. Murphy, Mouhammad Yabrodi, Riad Lutfi   +2 more
doaj   +1 more source

Survey of duchenne type and congenital type of muscular dystrophy in Shimane, Japan [PDF]

, 1977
Kenzo Takeshita, Kunio Yoshino, Tadashi Kitahara, Toshio Nakashima, Noriko Kato   +4 more
openalex   +1 more source

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

The FEBS Journal, EarlyView.
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. We demonstrated a broad shift in the circulating stress‐relevant plasma metabolome associated with stressful scruff handling that was ...
Erynn E. Johnson, James M. Ervasti
wiley   +1 more source

ST-segment elevation acute coronary syndrome in a child with Duchenne muscular dystrophy: a case report

Российский кардиологический журнал
Introduction. Duchenne muscular dystrophy is an X-linked muscle disorder caused by the dystrophin absence. This leads to the death of muscle cells and cardiomyocytes and their subsequent replacement with adipose and fibrous tissue.
Z. G. Tatarintseva, O. V. Babicheva, K. O. Barbuhatti   +2 more
doaj   +1 more source

Quantitative electromyography: carrier detection in Duchenne type muscular dystrophy using a new automatic technique [PDF]

, 1972
A. Moosa, Brian Brown, Victor Dubowitz
openalex   +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, EarlyView.
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

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

Immunology, EarlyView.
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

Exosome-Mediated Benefits of Cell Therapy in Mouse and Human Models of Duchenne Muscular Dystrophy

Stem Cell Reports, 2018
Summary: Genetic deficiency of dystrophin leads to disability and premature death in Duchenne muscular dystrophy (DMD), affecting the heart as well as skeletal muscle.
Mark A. Aminzadeh, Russell G. Rogers, Mario Fournier, Rachel E. Tobin, Xuan Guan, Martin K. Childers, Allen M. Andres, David J. Taylor, Ahmed Ibrahim, Xiangming Ding, Angelo Torrente, Joshua M. Goldhaber, Michael Lewis, Roberta A. Gottlieb, Ronald A. Victor, Eduardo Marbán   +15 more
doaj