Results 61 to 70 of about 805 (150)

Engineering Innervated Musculoskeletal Tissues for Regenerative Orthopedics and Disease Modeling

Small, Volume 20, Issue 23, June 5, 2024.
Coupling of the peripheral nervous system to the musculoskeletal system and its implications on tissue engineering strategies for MSK regeneration and disease modeling. Abstract Musculoskeletal (MSK) disorders significantly burden patients and society, resulting in high healthcare costs and productivity loss.
Zhilong Zhou, Jun Liu, Tiandi Xiong, Yuwei Liu, Rocky S. Tuan, Zhong Alan Li   +5 more
wiley   +1 more source

COMBINATION TREATMENT OF SARCOGLYCANOPATHIES

, 2018
Sarcoglycanopathies are autosomal recessive diseases caused by mutations in the one of the genes coding for any sarcoglycans (SG). The inventors previously showed that the application of small molecules developed to rescue ΔF508-CFTR trafficking, and ...
Sandonà Dorianna, Marsolier Justine, Richard Isabelle   +2 more
core  

[Sarcoglycanopathies: state of the art and therapeutic perspectives].

Medecine sciences : M/S, 2020
Sarcoglycanopathies are the third most common cause of autosomal recessive limb girdle muscular dystrophies (LGMD). They are the result of a deficiency in one of the sarcoglycans a, b, g, or d. The usual clinical presentation is that of a symmetrical involvement of the muscles of the pelvic and scapular girdles as well as of the trunk, associated with ...
Fernández-Eulate, Gorka, Leturcq, France, Laforêt, Pascal, Richard, Isabelle, Stojkovic, Tanya   +4 more
openaire   +2 more sources

The role of magnetic resonance imaging in diagnosing limb-girdle muscular dystrophy: a descriptive exploratory diagnostic study

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited neuromuscular disorders characterized by progressive weakness of the pelvic and shoulder girdle muscles.
Sara Mohamed Ihab, Khaled Abou Alfotouh Ahmed, Nagia Ali Fahmy, Samia Ashour Helal, Doaa Abdallah Elaidy   +4 more
doaj   +1 more source

Additional file 2: of Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

, 2019
Figure S1. Geographic origin of Chinese patients with sarcoglycanopathies and the common mutations identified in SGCA.
Yue Hou (2562085), Zhaoxia Wang (470659), Wei Zhang (405), Yilin Liu (1991839), Meng Yu (145821), Yanbin Fan (6339836), Hui Xiong (541837), Yun Yuan (748928), Zhiying Xie (6339833)   +8 more
core   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Development of a chemical toolbox to unveil the mechanism of action of the CFTR corrector C17 in sarcoglycanopathy and identify its molecular target(s)

, 2023
reservedLe sarcoglicanopatie sono rare distrofie muscolari con trasmissione autosomica recessiva caratterizzata da un progressivo indebolimento dei muscoli prossimali di fianchi, spalle e addome con un inizio precoce che può portare alla perdita di ...
BENETAZZO, MATTEO
core  

An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy. [PDF]

Muscles, 2023
Chabbi N, Angelini C, Rodriguez AA.
europepmc   +1 more source

Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder. [PDF]

Genes (Basel), 2023
Lewis S, Woroch A, Hatch MK, Lozano R.
europepmc   +1 more source

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients. [PDF]

Orphanet J Rare Dis, 2023
Lin F, Yang K, Lin X, Jin M, Chen L, Zheng FZ, Qiu LL, Ye ZX, Chen HZ, Lin MT, Wang N, Wang ZQ.   +11 more
europepmc   +1 more source