Results 11 to 20 of about 13,537,879 (292)
Research progress of muscular diseases
As the development of neuroscience technology and further realization of muscular diseases in Chinese doctors, there are a lot of clinical researches of muscular diseases in China during the period of Twelfth Five-Year Plan for National Economic and ...
Cheng ZHANG, Liang WANG
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Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]
Spinal muscular atrophy (SMA) is a genetic disease which is characterized by muscle weakness and atrophy. The disease arises from mutations in the survival motor neuron 1 (SMN1) gene causing degeneration of spinal cord motor neurons.
Little, Daniel
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Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis
Inclusion body myositis (IBM) is an acquired inflammatory myopathy affecting proximal and distal muscles that leads to weakness in patients over 50.
Judith Cantó-Santos +15 more
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In recent years, microalgae have become a source of molecules for a healthy life. Their composition of carbohydrates, peptides, lipids, vitamins and carotenoids makes them a promising new source of antioxidant molecules.
Jordi Vignaud +6 more
semanticscholar +1 more source
Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 ...
Elisabetta Amadori +17 more
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Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
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Ferroptosis in Friedreich’s Ataxia: A Metal-Induced Neurodegenerative Disease
Ferroptosis is an iron-dependent form of regulated cell death, arising from the accumulation of lipid-based reactive oxygen species when glutathione-dependent repair systems are compromised.
Piergiorgio La Rosa +4 more
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Objective NPRL3‐related epilepsy (NRE) is an emerging condition set within the wide GATOR‐1 spectrum with a particularly heterogeneous and elusive phenotypic expression.
Alice Dainelli +11 more
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Magnesium in Aging, Health and Diseases
Several changes of magnesium (Mg) metabolism have been reported with aging, including diminished Mg intake, impaired intestinal Mg absorption and renal Mg wasting. Mild Mg deficits are generally asymptomatic and clinical signs are usually non-specific or
M. Barbagallo +2 more
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An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
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