Results 21 to 30 of about 13,537,879 (292)

Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue

, 2023
Muscular dystrophies (MDs) make up a clinically and genetically heterogeneous group of skeletal muscle diseases with progressive muscle weakness and atrophy [...
Luisa Politano, Filippo M. Santorelli
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Diabetic Muscular Atrophy: Molecular Mechanisms and Promising Therapies

Frontiers in Endocrinology, 2022
Diabetes mellitus (DM) is a typical chronic disease that can be divided into 2 types, dependent on insulin deficiency or insulin resistance. Incidences of diabetic complications gradually increase as the disease progresses.
Yun-Tian Shen, Ming Li, Kexin Wang, Guang-Dong Qi, Hua Liu, Wei Wang, Yi Ji, M. Chang, Chunyan Deng, Feng Xu, Michal Shen, Hualin Sun   +11 more
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Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases

Frontiers in Molecular Biosciences, 2016
Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide, is an early-onset, autosomal recessive neurodegenerative disease characterized by the loss of spinal α-motor neurons.
Matthew E. R. Butchbach
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Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis

Orphanet Journal of Rare Diseases, 2020
Background Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available.
S. Crisafulli, J. Sultana, A. Fontana, F. Salvo, S. Messina, G. Trifirò   +5 more
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Diagnosis of muscular dystrophies at the nanometer scale [PDF]

, 2009
The diagnosis of muscular dystrophies or the assessment of the functional benefit of gene or cell therapies can be difficult, especially for poorly accessible muscles, and it often lacks a single-fiber resolution.
Kuntzer, T., Lekka, M., Kulik, A., Puttini, S., Mermod, N.   +4 more
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Exertional heat stroke-related rhabdomyolysis recurring twice in a 12-year-old boy athlete [PDF]

Pediatric Emergency Medicine Journal, 2022
Exertional heat stroke (EHS) is a life-threatening entity characterized by elevated core temperature with potential for multiorgan dysfunction. EHS-related rhabdomyolysis usually occurs in the early phase.
Soo Jin Kwon, Jong Ho Cha, Yong Joo Kim, Seung Yang, Jin-Hwa Moon, Jae Yoon Na   +5 more
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COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy. [PDF]

, 2021
INTRODUCTION Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy.
Jan Brands, Thomas Bilzer, Frank Steffen, Brands, Jan, Spennes, Jochen, Bilzer, Thomas, Leeb, Tosso, Tosso Leeb, Steffen, Frank, Jochen Spennes   +9 more
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Functional imaging in muscular diseases

Insights into Imaging, 2011
ObjectiveThe development of morphological and functional imaging techniques has improved the diagnosis of muscular disorders.MethodsWith the use of whole-body magnetic resonance imaging (MRI) the possibility of imaging the entire body has been introduced.
E. Amarteifio, A. Nagel, H. Kauczor, Marc-André Weber   +3 more
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Prediction of muscular paralysis disease based on hybrid feature extraction with machine learning technique for COVID-19 and post-COVID-19 patients

Personal and Ubiquitous Computing, 2021
Many Coronavirus disease 2019 (COVID-19) and post-COVID-19 patients experience muscle fatigues. Early detection of muscle fatigue and muscular paralysis helps in the diagnosis, prediction, and prevention of COVID-19 and post-COVID-19 patients.
Prabu Subramani, S. K., K. B., S. R., Parameshachari B. D.   +4 more
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Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages [PDF]

, 2007
Mutations in laminin-alpha2 cause a severe congenital muscular dystrophy, called MDC1A. The two main receptors that interact with laminin-alpha2 are dystroglycan and alpha7beta1 integrin.
Ruegg, M. A., Patrizia Barzaghi, Lochmuller, H., Sarina Meinen, Markus A. Ruegg, Lin, S., Hanns Lochmüller, Shuo Lin, Barzaghi, P., Meinen, S., Meinen S, Barzaghi P, Lin S, Lochmüller H, Ruegg MA   +14 more
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