Results 11 to 20 of about 13,537,879 (292)

Research progress of muscular diseases

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2018
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
doaj   +1 more source

Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]

open access: yes, 2013
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
core   +5 more sources

Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis

open access: yesAntioxidants, 2023
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
doaj   +1 more source

Microalgae Produce Antioxidant Molecules with Potential Preventive Effects on Mitochondrial Functions and Skeletal Muscular Oxidative Stress

open access: yesAntioxidants, 2023
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

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

open access: yesItalian Journal of Pediatrics, 2020
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
doaj   +1 more source

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

open access: yes, 2011
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
core   +1 more source

Ferroptosis in Friedreich’s Ataxia: A Metal-Induced Neurodegenerative Disease

open access: yesBiomolecules, 2020
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
doaj   +1 more source

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

open access: yesEpilepsia Open, 2023
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
doaj   +1 more source

Magnesium in Aging, Health and Diseases

open access: yesNutrients, 2021
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
semanticscholar   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

open access: yes, 1981
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.
core   +1 more source

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