Results 121 to 130 of about 60,007 (250)

Interpretation of "Diagnosis and management of Duchenne muscular dystrophy: a guide for families (2011 version)"

Chinese Journal of Contemporary Neurology and Neurosurgery, 2015
The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups [Muscular Dystrophy Association ...
Xi-hua LI
doaj  

Ryanodine Receptor Ca2+ Leak‐Induced Redistribution of Ca2+ in Dystrophic mdx Mouse Muscle

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The dystrophic mdx mouse is a widely used model of Duchenne muscular dystrophy. Altered Ca2+ handling is a key feature, including increased Ca2+ leak through the ryanodine receptor (RyR1's), the primary Ca2+ release channel in skeletal muscle. Such leak has important downstream consequences for intracellular Ca2+ homeostasis.
Rhayanna B. Gaglianone, Cedric R. Lamboley, Taylor Dick, Aldo Meizoso‐Huesca, Daniel P. Singh, Bradley S. Launikonis   +5 more
wiley   +1 more source

Aggravation of Cardiovascular and Respiratory Decline in Advanced Duchenne Muscular Dystrophy Complicated by Dilated Cardiomyopathy – Case Study and Review of Literature

Journal of Education, Health and Sport
Introduction: Duchenne muscular dystrophy is a genetic X-linked recessive disorder. This condition is characterized by progressive loss of muscle tissue. Thus, it results in deterioration and inability to perform basic motor skills such as independent
Iwona Welian-Polus, Bartosz Mazur, Michał Bielak, Magdalena Mazur, Elżbieta Rypulak, Wiktoria Wilanowska, Anna Greguła, Karol Stachyrak, Dawid Mika, Kamila Turek   +9 more
doaj   +1 more source

Developing Public‐Friendly Visualisations to Improve PPIE Glossaries for Statistical Methodology Research

Health Expectations, Volume 29, Issue 3, June 2026.
ABSTRACT Background Plain‐language definitions help patients and the public engage in research, but some technical terms are easier to understand with visual aids. Furthermore, many people find visual aids more intuitive when learning new concepts.
Clareece R. Nevill, Hannah Cooper, Barbara Czyznikowska, Louise Fairgrieve, Justin Greenwood, Gurpreet Grewal‐Santini, Janion Nevill, Lucy Teece, Molly Wells, Suzanne C. Freeman, Sarah Booth   +10 more
wiley   +1 more source

Assessment of DNA Variations From Two In Vivo Skeletal Muscle Disorder Mouse Models Using Complementary Square‐Wave Voltammetry and LC‐MS/MS Analysis

ChemBioChem, Volume 27, Issue 9, 14 May 2026.
Complementary square wave voltammetry (SWV) and liquid chromatography‐tandem mass spectrometry (LC‐MS/MS DNA) are used to analyze DNA extracted from selected muscle tissues from either mdx or col5a1(+/‐) mouse models. SWV oxidative currents change with treatment and allow for a rapid genetic analysis.
Elizabeth R. LaFave, Grayson B. Sink, Saphal Bhandari, Emma L. Rayfield, Andrew T. Readyoff, Espen E. Spangenburg, Eli G. Hvastkovs   +6 more
wiley   +1 more source

Analysis of Real‐World Data Utilization in the Orphan Drug Approval Process: Focusing on New Drug Marketing Applications Submitted to the FDA

Clinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1340-1349, May 2026.
In the field of rare diseases—where traditional clinical trials are often impractical—real‐world data (RWD) have emerged as a scientifically valid alternative to support regulatory decision making. This study systematically evaluates the utilization of RWD in orphan drug approvals by the FDA Center for Drug Evaluation and Research (CDER) over the past ...
Minji Kim, Eunjin Hong
wiley   +1 more source

Carbohydrate‐Based Drug Discovery: Synthetic Strategies and Clinical Applications

Israel Journal of Chemistry, Volume 66, Issue 3, May 2026.
The picture depicts the molecules discussed in the review. On the left side, the general scaffold of sugars is shown. Next to it are four carbohydrate‐based molecules, including remdesivir, islatravir, empagliflozin, and Globo‐H. Remdesivir and islatravir contain a substituted ribose ring attached to a modified nucleobase.
Stephan Scheeff, Jemma Arakelyan, Billy Wai‐Lung Ng   +2 more
wiley   +1 more source

Quality Evaluation Considerations for Stem Cell‐Derived Extracellular Vesicles‐Based Therapeutic Products in China

Journal of Extracellular Vesicles, Volume 15, Issue 5, May 2026.
ABSTRACT Stem cell therapy is currently undergoing clinical research in China for conditions that are resistant to or incurable by traditional pharmaceutical interventions. Stem cell‐derived extracellular vesicles (EVs) exhibit therapeutic effects similar to those of their parent stem cells, positioning them as an alternative or adjunctive approach to ...
Tao Na, Kehua Zhang, Libo Zhao, Xuanbao Yao, Chongfeng Xu, Yuan Zhang, Lan Wang, Miao Xu, Hui Zhang, Shufang Meng   +9 more
wiley   +1 more source

Cognitive Function in Duchenne Muscular Dystrophy Patients

Neurologijos seminarai
Duchenne muscular dystrophy is a rare, progressive, X-linked recessive disorder, characterized by impaired synthesis of the protein dystrophin. Motor symptoms in boys typically emerge within the first year of life, followed by progressive cardiac ...
Viktorija Urbanovič, Jurgita Grikinienė   +1 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source