Results 11 to 20 of about 2,668 (131)

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

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

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

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

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

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

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India [PDF]

Global Medical Genetics, 2021
AbstractCalpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are included in this study. Consanguinity was present in 54.2%.
Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini   +16 more
openaire   +3 more sources

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

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

Cells, 2022
Limb-girdle muscular dystrophy R12 (LGMD-R12) is caused by two mutations in anoctamin-5 (ANO5). Our aim was to identify genes and pathways that underlie LGMD-R12 and explain differences in the molecular predisposition and susceptibility between three ...
Christophe E. Depuydt, Veerle Goosens, Rekin’s Janky, Ann D’Hondt, Jan L. De Bleecker, Nathalie Noppe, Stefaan Derveaux, Dietmar R. Thal, Kristl G. Claeys   +8 more
doaj   +1 more source