Results 101 to 110 of about 28,350 (246)

Dystrophin and the brain [PDF]

Developmental Medicine & Child Neurology, 2010
Ricotti, Valeria, Roberts, Roland G., Muntoni, Francesco   +2 more
openaire   +3 more sources

Basal Energetics and Phosphocreatine Recovery Kinetics in Ambulatory Boys With Duchenne Muscular Dystrophy

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Basal energetics and phosphocreatine (PCr) recovery kinetics of the lower leg anterior compartment (primarily tibialis anterior; TA) were evaluated at rest and after dorsiflexion muscle contractions in ambulatory boys with Duchenne muscular dystrophy (DMD) and unaffected controls using 31P‐MRS.
Pratiksha P. Awale, Christophor Lopez, Tanja Taivassalo, Krista Vandenborne, Glenn A. Walter, Sean C. Forbes   +5 more
wiley   +1 more source

Dystrophin quantification after immunostaining with anti-dystrophin ab15277 or anti-dystrophin MANDYS106 after Axio Scan-Definiens analysis.

, 2018
Serial muscle sections from two controls (control 1 and 2, Table 1), two DMD and two BMD patients were cut and stained with the two antibody combinations (anti-dystrophin ab15277/anti spectrin and anti-dystrophin MANDYS106/anti-laminin).
Francesco Muntoni (228210), Caroline Sewry (3498809), Matthew Ellis (68657), Rahul Phadke (435623), Jennifer E. Morgan (205557), Silvia Torelli (358373), Lucy Feng (435622), Valentina Sardone (540411), Darren Chambers (4348093), Deborah Eastwood (5007509)   +9 more
core   +1 more source

Proteomic analysis identifies key differences in the cardiac interactomes of dystrophin and micro-dystrophin [PDF]

, 2021
ΔR4-R23/ΔCT micro-dystrophin (μDys) is a miniaturized version of dystrophin currently evaluated in a Duchenne muscular dystrophy (DMD) gene therapy trial to treat skeletal and cardiac muscle disease.
Montanaro, F, Scott, CS, Yue, Y, Froehner, SC, Wasala, NB, Hau, K-L, Duan, D, Adams, ME, Wang, H, Marrosu, E, Trask, AJ, Zhang, L, Johnson, EK, Brayson, D   +13 more
core  

Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro

Journal of Translational Medicine, 2009
The dystrophin gene, located at Xp21, codifies dystrophin, which is part of a protein complex responsible for the membrane stability of muscle cells. Its absence on muscle causes Duchenne Muscular Dystrophy (DMD), a severe disorder, while a defect of ...
Gollop Thomaz R, Zucconi Eder, Vieira Natássia M, Secco Mariane, Jazedje Tatiana, Vainzof Mariz, Zatz Mayana   +6 more
doaj   +1 more source

Asynchrony Related to Mechanical Ventilation Exacerbates Diaphragm Dysfunction in a Mouse Model of Duchenne Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 1, Page 255-264, July 2026.
ABSTRACT Introduction/Aims In dystrophic mice (mdx, a genetic homolog of Duchenne muscular dystrophy: DMD), previous studies showed that mechanical ventilation (MV) induces ventilator‐induced diaphragmatic dysfunction (VIDD). However, susceptibility to mechanical stress caused by asynchrony remains unknown.
Mohamad Yehya, Haikel Dridi, Eric Estève, Johan Moreau, Steven Reiken, Andrew R. Marks, Alain Lacampagne, Stefan Matecki   +7 more
wiley   +1 more source

Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy is a fatal muscle disease, caused by mutations in DMD, leading to loss of dystrophin expression. Phosphorodiamidate morpholino splice-switching oligonucleotides (PMO-SSOs) have been used to elicit the restoration of a ...
Ugur Akpulat, Haicui Wang, Kerstin Becker, Adriana Contreras, Terence A. Partridge, James S. Novak, Sebahattin Cirak   +6 more
doaj   +1 more source

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

The Journal of Pathology, Volume 269, Issue 3, Page 363-380, July 2026.
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen, Qirong Mao, Stefan Nicolau, Claudio Novella Rausell, Julia van der Weerd, Jan Kueckelhaus, Rasya Gokul Nath, Jordi Diaz‐Manera, Hermien E Kan, Erik H Niks, Maaike van Putten, Annemieke Aartsma‐Rus, Kevin M Flanigan, Ahmed Mahfouz, Pietro Spitali   +14 more
wiley   +1 more source

Diaphragm‐specific effects of L‐citrulline in mdx mice highlight its potential as adjuvant of standard therapy in Duchenne muscular dystrophy

British Journal of Pharmacology, Volume 183, Issue 13, Page 3866-3884, July 2026.
Abstract Background and Purpose The absence of the protein dystrophin in Duchenne muscular dystrophy (DMD) leads to progressive muscle weakness, failing regeneration and deregulation of nitric oxide (NO) signalling. We focused on L‐citrulline, a precursor of L‐arginine, required for NO production in muscle, which is reduced in dystrophic mdx muscle ...
Lisamaura Tulimiero, Brigida Boccanegra, Paola Mantuano, Antonietta Mele, Michela De Bellis, Roberta Lenti, Francesca Sanarica, Santa Cirmi, Elena Conte, Ornella Cappellari, Amber E. Sherrard, Ardawna Green, Mira Srinivasa, Marta L. Fiorotto, Annamaria De Luca   +14 more
wiley   +1 more source

Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data

, 2006
Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer Emile J, Veronica Vinciotti, Xiaohui Liu, t' Hoen, PC, de Meijer, EJ, Emile J de Meijer, Rolf Turk, 't Hoen Peter AC, Turk, R, Peter AC 't Hoen, Vinciotti, V, Xiaohui, L, Vinciotti Veronica, Turk Rolf, Liu Xiaohui   +14 more
core   +1 more source