Results 101 to 110 of about 71,159 (294)

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

PLoS ONE, 2016
Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction
Narinder Janghra, Jennifer E Morgan, Caroline A Sewry, Francis X Wilson, Kay E Davies, Francesco Muntoni, Jonathon Tinsley   +6 more
doaj   +1 more source

A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

International Journal of Neonatal Screening, 2017
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately ...
Samiah A. Al-Zaidy, Michele Lloyd-Puryear, Annie Kennedy, Veronica Lopez, Jerry R. Mendell   +4 more
doaj   +1 more source

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, EarlyView.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F

Skeletal Muscle, 2017
Background Sarcospan (SSPN) is a transmembrane protein that interacts with the sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex that spans the sarcolemma and interacts with laminin in the extracellular matrix ...
Angela K. Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L. Wang, Jim Heighway, Ramón M. Coral-Vázquez, Julio Vergara, Rachelle H. Crosbie-Watson   +9 more
doaj   +1 more source

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway [PDF]

, 2017
Oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD), an X-linked genetic disorder caused by mutations in the dystrophin gene and characterized by progressive, lethal muscle degeneration and chronic inflammation.
Bertini, Enrico, Catteruccia, Michela, D'Amico, Adele, FORCINA, LAURA, MUSARO', Antonio, PELOSI, LAURA, Petrillo, Sara, Petrini, Stefania, Piemonte, Fiorella, Travaglini, Lorena, Verardo, Margherita   +10 more
core   +1 more source

The Frank Vectorcardiogram and the Electrocardiogram in Duchenne Progressive Muscular Dystrophy [PDF]

, 1967
Charles W. Fitch, Lorin E. Ainger
openalex   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dystrophin gene [PDF]

, 1994
We report on multicolor fluorescence in situ hybridization protocols for the simultaneous visualization of deletion-prone regions for carrier detection of Duchenne/ Becker (DMD/BMD) muscular dystrophy.
Blonden, Lau, Cremer, Marion, Cremer, Thomas, Kilian, Karin, Ried, Thomas, Schröck, Evelin, Tocharoentanaphol, Chintana   +6 more
core   +1 more source

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

Cell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang, Yue‐Yue Wang, Ri Wen, Tie‐Ning Zhang, Ni Yang   +4 more
wiley   +1 more source

Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy

Orphanet Journal of Rare Diseases, 2017
Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capacity for endogenous nitric oxide synthesis ...
Cara A. Timpani, Alan Hayes, Emma Rybalka   +2 more
doaj   +1 more source