Results 51 to 60 of about 7,022 (221)

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

Insect-vision inspired collision warning vision processor for automobiles [PDF]

, 2008
Vision is expected to play important roles for car safety enhancement. Imaging systems can be used to enlarging the vision field of the driver. For instance capturing and displaying views of hidden areas around the car which the driver can analyze for ...
Carranza González, Luis, Liñán Cembrano, Gustavo, Rind, Claire, Rodríguez Vázquez, Ángel Benito, Soininen, Martti, Zarandy, Akos   +5 more
core   +1 more source

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)

Cells
Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and ...
Sara Aguti, G. Gallus, Silvia Bianchi, Simona Salvatore, A. Rubegni, G. Berti, Patrizia Formichi, N. De Stefano, A. Malandrini, D. Lopergolo   +9 more
semanticscholar   +1 more source

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers [PDF]

, 2017
Background: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the
Campbell, Kevin P., Clark, Leigh Anne, Cox, Melissa L., Davis, Alexander G., Evans, Jacquelyn M., Guo, Ling T., Hytonen, Marjo K., Levy, Jennifer R., Lohi, Hannes, Salmela, Elina, Shelton, G. Diane, Starr-Moss, Alison N.   +11 more
core   +1 more source

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma

Genes
Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by
A. Taneva, David Gresham, V. Guergueltcheva, T. Chamova, V. Bojinova, M. Gospodinova, M. Katzarova, R. Petkov, T. Voit, Lidia Aneva, Ognyan Asenov, B. Georgieva, V. Mihaylova, S. Bichev, T. Todorov, Albena Todorova, Luba Kalaydjieva, I. Tournev   +17 more
semanticscholar   +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

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 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

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

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]

, 2015
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the, De Bleecker, Jan, Doggen, Kris, Roy, Anna J, Van Casteren, Viviane, Van Coster, Rudy, Van Damme, Philip, Van den Bergh, Peter   +7 more
core   +2 more sources