Results 131 to 140 of about 71,159 (294)

Quantitative electromyography: carrier detection in Duchenne type muscular dystrophy using a new automatic technique [PDF]

, 1972
A. Moosa, Brian Brown, Victor Dubowitz
openalex   +1 more source

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

The Journal of Physiology, EarlyView.
Abstract figure legend Intrafusal muscles contained within muscle spindles are endowed with ryanodie receptor 1 (RyR1) calcium channels and participate in proprioceptor function. Mutations in RyR1 linked to severe RYR1‐congenital myopathies affect calcium release from both extrafusal as well as intrafusal muscles.
Alexis Ruiz, Sofia Benucci, Hervé Meier, Georg Schultz, Katarzyna Buczak, Christoph Handschin, Rodrigo C. G. Pena, Susan Treves, Francesco Zorzato   +8 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

Survey of duchenne type and congenital type of muscular dystrophy in Shimane, Japan [PDF]

, 1977
Kenzo Takeshita, Kunio Yoshino, Tadashi Kitahara, Toshio Nakashima, Noriko Kato   +4 more
openalex   +1 more source

PRDX5 Regulates Mitochondrial Function and Nuclear Spreading in Myogenesis and Acts With PRDX3 to Delay Muscle Aging

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Skeletal muscle aging is associated with oxidative stress and mitochondrial dysfunction. Peroxiredoxins (PRDXs), particularly PRDX3 and PRDX5, are antioxidant enzymes that are uniquely localized to mitochondria. While PRDX3 has been reported to play a role in maintaining mitochondrial function in muscle, the specific function of ...
Joonho Suh, Je‐Hyun Eom, Jongmin Baik, Wonn Shim, Max A. Tischfield, Hyun Ae Woo, Yun‐Sil Lee   +6 more
wiley   +1 more source

Efficacy and safety of Viltepso® in Duchenne muscular dystrophy: review of clinical studies

Русский журнал детской неврологии
The author presents a literature review on the safety and efficacy of antisense oligonucleotides in the treatment of Duchenne muscular dystrophy using the exon skipping method using Viltepso® (viltolarsen), the only drug of this class registered in ...
V. M. Suslov, D. I. Rudenko
doaj   +1 more source

Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy–Associated Cardiomyopathy

Acta Physiologica, Volume 241, Issue 12, December 2025.
ABSTRACT Aim Duchenne muscular dystrophy (DMD), a rare X‐linked genetic disorder, is affecting skeletal and cardiac muscles due to the loss of the dystrophin protein. Modifier proteins, whose expression is altered in DMD patients, may influence disease progression.
Brice‐Emmanuel Guennec, Yeranuhi Hovhannisyan, Gaëlle Revet, Sila Polat, Medhi Hassani, Nathalie Mougenot, Inès Barthelemy, Stephane Blot, Caroline Cieniewski‐Bernard, Arnaud Ferry, Ekaterini Kordeli, Zhenlin Li, Onnik Agbulut   +12 more
wiley   +1 more source

Petides in Duchenne muscular dystrophy. [PDF]

, 1977
Stanley J. Gross
openalex   +1 more source

Aryl Hydrocarbon Receptor in Health and Disease

MedComm, Volume 6, Issue 11, November 2025.
Based on the structure and ligands of AhR, this review introduces the AhR‐related signaling pathways and their roles in health and diseases. Agonists and antagonists of AhR as well as new strategies for treatment using the microbial–AhR axis are summarized. A prospect was made for the future use of AhR as a therapeutic target.
Haonan Li, Yufeng Fan, Jizheng Liu, Shumin Dong, Bin Wen, Yunfei Zhang, Xiaocui Wang, Xuemei Duan, Ying Hu, Ze Yan, Huifeng Shang, Yukai Jing   +11 more
wiley   +1 more source

POSSIBILITY OF PRENATAL DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY (DMD) [PDF]

, 1977
Florence P. Haseltine, Maurice J Mahonev, John C. Hobbins, C. Thomas Caskey, Leon Roaenberg   +4 more
openalex   +1 more source