Results 191 to 200 of about 59,671 (341)

Deletions in the 5' region of dystrophin and resulting phenotypes.

open access: green, 1994
Francesco Muntoni   +9 more
openalex   +1 more source

A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients, and of normal and mdx mice Immunological evidence [PDF]

open access: bronze, 1991
F. Pons   +9 more
openalex   +1 more source

Quantitative Muscle Ultrasound: A Non‐Invasive Biomarker for Monitoring Duchenne Muscular Dystrophy

open access: yesMuscle &Nerve, Volume 72, Issue 4, Page 606-615, October 2025.
ABSTRACT Introduction/Aims Quantitative muscle ultrasound (QMUS) shows promise as a non‐invasive biomarker for monitoring functional status in Duchenne muscular dystrophy (DMD). We evaluated the correlation between QMUS in various muscles and functional capacity assessments.
Yu Jin Im   +5 more
wiley   +1 more source

Multiparametric Analysis of Nasal Inspiratory Pressure (SNIP) in Duchenne Muscular Dystrophy: A Case‐Control Study With Healthy Subjects

open access: yesPediatric Pulmonology, Volume 60, Issue 10, October 2025.
ABSTRACT Background Individuals with Duchenne Muscular Dystrophy (DMD) exhibit respiratory muscle changes leading to fatigue and weakness, and assessing relaxation rates and contractile properties may help detect early fatigue. Aim To non‐invasively assess inspiratory muscle relaxation and contractile rates using sniff nasal inspiratory pressure (SNIP)
Ilsa P. Santos   +9 more
wiley   +1 more source

Analysis of the dystrophin interactome

open access: yes, 2016
Le but de ce projet était d'identifier de manière méthodique et standardisée les partenaires interagissant avec la protéine dystrophine dans les cellules musculaires squelettiques humaines différenciées et découvrir de nouveaux rôles de la dystrophine. Des cellules immortalisées ont été obtenue en sur-exprimant de manière stable hTERT / CDK4.
openaire   +2 more sources

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

open access: yesDevelopmental 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   +176 more
wiley   +1 more source

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

open access: yesThe 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

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