Results 81 to 90 of about 36,350 (272)

Generation of three Duchenne muscular dystrophy patient-derived induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and ICGi002-C

Stem Cell Research, 2020
Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males.
K.R. Valetdinova, M.A. Maretina, Y.V. Vyatkin, M.P. Perepelkina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, P.M. Gershovich, S.M. Zakian   +8 more
doaj  

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

A Population Pharmacokinetic Model to Inform Extension of the Eteplirsen Dosing Regimen Across the Broad DMD Population

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Duchenne muscular dystrophy (DMD) is characterized by progressive, irreversible muscle damage that usually leads to premature death from cardiac or respiratory failure. Eteplirsen is a phosphorodiamidate morpholino oligomer and the first antisense oligonucleotide (ASO) approved for the treatment of patients with exon 51 skip‐amenable DMD. This
Yogesh Patel, Larry Orogun, Nicole Yocum, Louise R. Rodino‐Klapac, Lilly East   +4 more
wiley   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, EarlyView.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 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

Multiparametric Deep Learning Tissue Signatures for Muscular Dystrophy: Preliminary Results [PDF]

arXiv, 2019
A current clinical challenge is identifying limb girdle muscular dystrophy 2I(LGMD2I)tissue changes in the thighs, in particular, separating fat, fat-infiltrated muscle, and muscle tissue. Deep learning algorithms have the ability to learn different features by using the inherent tissue contrasts from multiparametric magnetic resonance imaging (mpMRI).
arxiv  

Mechanical Design Improvement of a Passive Device to Assist Eating in People Living with Movement Disorders [PDF]

Rehabilitation Engineering Society of North America (now Rehabilitation Engineering and Assistive Technology Society of North America (RESNA), 2020, 2020
Many people living with neurological disorders, such as cerebral palsy, stroke, muscular dystrophy or dystonia experience upper limb impairments (muscle spasticity, loss of selective motor control, muscle weakness or tremors) and have difficulty to eat independently.
arxiv  

Distrofias musculares en el paciente adulto

Revista Médica Clínica Las Condes, 2018
RESUMEN: Las distrofias musculares son un grupo de trastornos hereditarios, degenerativos, progresivos del músculo estriado, cuya manifestación cardinal es la debilidad de la musculatura estriada esquelética.
Nicholas Earle, MD, Jorge A. Bevilacqua, MD, PhD   +1 more
doaj  

Rigidity and flexibility in protein-protein interaction networks: a case study on neuromuscular disorders [PDF]

arXiv, 2014
Mutations in proteins can have deleterious effects on a protein's stability and function, which ultimately causes particular diseases. Genetically inherited muscular dystrophies (MDs) include several genetic diseases, which cause increasing weakness in muscles and disability to perform muscular functions progressively.
arxiv  

Cellular Senescence Is a Central Driver of Cognitive Disparities in Aging

Aging Cell, EarlyView.
The molecular underpinnings of divergent cognitive trajectories in aging remain unresolved. Using high‐resolution behavioral testing to cognitively stratify aged male mice into ‘intact’ and ‘impaired’ subgroups, we show that reactive gliosis and cellular senescence are key determinants of disparities in cognitive function with age.
Matthew P. Baier, Rojina Ranjit, Daniel B. Owen, Jenna L. Wilson, Megan A. Stiles, Anthony M. Masingale, Zachary Thomas, Anne Bredegaard, David M. Sherry, Sreemathi Logan   +9 more
wiley   +1 more source