Results 21 to 30 of about 2,687 (150)

The ties that bind: functional clusters in limb-girdle muscular dystrophy

Skeletal Muscle, 2020
The limb-girdle muscular dystrophies (LGMDs) are a genetically pleiomorphic class of inherited muscle diseases that are known to share phenotypic features. Selected LGMD genetic subtypes have been studied extensively in affected humans and various animal
Elisabeth R. Barton, Christina A. Pacak, Whitney L. Stoppel, Peter B. Kang   +3 more
doaj   +1 more source

A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene

Анналы клинической и экспериментальной неврологии, 2021
Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600).
Inna V. Sharkova, Maria V. Bulakh, Liudmila А. Bessonova, Olga A. Shchagina, Elena L. Dadaly   +4 more
doaj   +1 more source

Assessment of Turbulence Models for Unsteady Separated Flows Past an Oscillating NACA 0015 Airfoil in Deep Stall [PDF]

Journal of Applied Fluid Mechanics, 2023
This paper provides 2D Computational Fluid Dynamics (CFD) investigations, using OpenFOAM package, of the unsteady separated fully turbulent flows past a NACA 0015 airfoil undergoing sinusoidal pitching motion about its quarter-chord axis in deep stall ...
S. Ouchene, A. Smaili, H. Fellouah
doaj   +1 more source

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes.
Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino, Lee-Jun C. Wong   +9 more
doaj   +1 more source

Differential expression profiling between the relative normal and dystrophic muscle tissues from the same LGMD patient

Journal of Translational Medicine, 2006
Background Limb-girdle muscular dystrophy (LGMD) is a group of heterogeneous muscular disorders with autosomal dominant and recessive inheritance, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved.
Yang Wei, Tai Sheng, Xiao Xingjun, Zhao Xinyi, Chen Dazhi, Ye Jianwei, Zhang Yong, Zhu Dahai   +7 more
doaj   +1 more source

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients

Frontiers in Neurology, 2023
BackgroundLAMA2-related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown.MethodsWe conducted a retrospective cross-sectional and longitudinal study on 19 LGMD
Xiuli Huang, Dandan Tan, Zaiqiang Zhang, Lin Ge, Jieyu Liu, Juan Ding, Haipo Yang, Cuijie Wei, Xingzhi Chang, Yun Yuan, Chuanzhu Yan, Hui Xiong, Hui Xiong   +12 more
doaj   +1 more source

Internal Drivers of Circular Economy: The Role of Quality Management and Digitalization

Business Strategy and the Environment, EarlyView.
ABSTRACT The implementation by organizations of environmental practices related to circular economy can play a key role in helping solve important environmental problems such as climate change, pollution, and overconsumption of natural resources. A relevant theoretical and practical research topic is to study the role of internal determinants that can ...
Juan José Tarí, José F. Molina‐Azorín, Maria D. López‐Gamero, Eva M. Pertusa‐Ortega, Jorge Pereira‐Moliner   +4 more
wiley   +1 more source

Machine learning-based short-term solar power forecasting: a comparison between regression and classification approaches using extensive Australian dataset

Sustainable Energy Research
Solar energy production is an intermittent process that is affected by weather and climate conditions. This can lead to unstable and fluctuating electricity generation, which can cause financial losses and damage to the power grid.
H. I. Aouidad, A. Bouhelal
doaj   +1 more source

Non-linear neuronal responses as an emergent property of afferent networks: a case study of the locust lobula giant movement detector. [PDF]

PLoS Computational Biology, 2010
In principle it appears advantageous for single neurons to perform non-linear operations. Indeed it has been reported that some neurons show signatures of such operations in their electrophysiological response.
Sergi Bermúdez i Badia, Ulysses Bernardet, Paul F M J Verschure   +2 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source