Results 11 to 20 of about 2,672 (146)

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +2 more sources

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy. [PDF]

Adv Sci (Weinh)
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Wu P, Zhang Z, Zheng K, Zhu Z, Zhu Y, Kiram A, Zhao L, Chen H, Xu Z, Li X, Sun B, Li Z, Xu D.   +12 more
europepmc   +2 more sources

Limb–Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study

Muscles, 2023
The present study is the first research that analyzes the quality of life (QoL) of people affected by a dominant form of limb–girdle muscular dystrophy, specifically limb–girdle muscular dystrophy D2 (LGMD-D2).
Alicia Aurora Rodríguez, Imanol Amayra, Irune García, Corrado Angelini   +3 more
doaj   +1 more source

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Orphanet Journal of Rare Diseases, 2018
Background Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles.
Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang   +9 more
doaj   +1 more source

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy

Physiological Reports, 2023
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb‐girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles.
Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin   +6 more
doaj   +1 more source

Enhancing LGMD-based model for collision prediction via binocular structure

Frontiers in Neuroscience, 2023
IntroductionLobular giant motion detector (LGMD) neurons, renowned for their distinctive response to looming stimuli, inspire the development of visual neural network models for collision prediction.
Yi Zheng, Yi Zheng, Yusi Wang, Yusi Wang, Guangrong Wu, Guangrong Wu, Haiyang Li, Haiyang Li, Jigen Peng, Jigen Peng   +9 more
doaj   +1 more source

A Muscle Biosignature Differentiating Between Limb-Girdle Muscular Dystrophy and Idiopathic Inflammatory Myopathy on Magnetic Resonance Imaging

Frontiers in Neurology, 2021
Background: The overlapping clinical presentations of limb-girdle muscular dystrophy (LGMD) and idiopathic inflammatory myopathy (IIM) make clinical diagnosis challenging.
Wen-Chi Hsu, Wen-Chi Hsu, Yu-Ching Lin, Yu-Ching Lin, Hai-Hua Chuang, Hai-Hua Chuang, Kun-Yun Yeh, Kun-Yun Yeh, Wing P. Chan, Wing P. Chan, Long-Sun Ro, Long-Sun Ro   +11 more
doaj   +1 more source

An adaptive scheme for the efficient evaluation of integrals in two-dimensional boundary element method [PDF]

Iranian Journal of Numerical Analysis and Optimization
An efficient analysis with the boundary element method requires an accurate evaluation of all the boundary integrals. Typically, nonsingular integrals are solved numerically using Gauss quadrature.
R. Si Hadj Mohand, Y. Belkacemi, S. Rechak   +2 more
doaj   +1 more source

Genetic characterization of Limb Girdle Muscular Dystrophies and Pompe Disease in a large Argentine cohort

Neurology Perspectives, 2022
Introduction: The Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of genetically inherited myopathies characterized by progressive weakness of the limb-girdle muscles.
M. Schiava, C. Marchesoni, M.L. García de Rosa, N. Estrada, L.L. Cejas, A. Pardal, L. Pirra, L. Repetto, A. Torres, A. Dubrovsky, R. Reisin   +10 more
doaj   +1 more source

Impact of Surface Roughness on the Aerodynamic Efficiency of Wind Turbines: A New CFD-based Correlation [PDF]

Journal of Applied Fluid Mechanics
The aerodynamic performance of wind turbines is significantly influenced by the design of their blades, which are engineered with advanced aerodynamic airfoils.
A. Bouhelal, M. N. Hamlaoui, A. Smaili
doaj   +1 more source