Results 1 to 10 of about 189,072 (321)
Functional imaging in muscular diseases. [PDF]
AbstractObjectiveThe 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.
Amarteifio E+3 more
europepmc +5 more sources
Muscular dystrophy: The worm turns to genetic disease [PDF]
A new animal model for studying muscular dystrophy, a mutant form of the nematode Caenorhabditis elegans, brings the power of worm genetics to bear on the search for a cure for this disease; work on this worm has already led to the identification of a novel component that can suppress the mutant phenotype.
Jeffrey S. Chamberlain, Guy M. Benian
openalex +5 more sources
Intramuscular Hemangioma: A Rare Cause of Omalgia [PDF]
Intramuscular hemangiomas (IHs) are benign soft-tissue tumors that represent less than 1% of all hemangiomas. This clinical entity is rarely considered as a differential diagnosis in cases of musculoskeletal pain. A healthy 38-year-old woman presented to
Pedro M. Guedes+5 more
doaj +1 more source
Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts
Redox imbalance, mitochondrial dysfunction, and inflammation play a major role in the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), an inherited neurodegenerative disease caused by mutations in the ABCD1 gene, encoding the protein responsible
Sara Petrillo+7 more
doaj +1 more source
Ageing with Muscular Disease [PDF]
Background: The demographic development with an ageing population is predicted to be the next global public health challenge. Advances in medicine and the socioeconomic development have reduced mortality and morbidity due to infectious conditions and non-communicable diseases.
Martinsen, Bente, Dreyer, Pia
openaire +4 more sources
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment
Background: Despite the wide availability of novel anti-seizure medications (ASMs), 30% of patients with epilepsy retain persistent seizures with a significant burden in comorbidity and an increased risk of premature death.
Antonella Riva+15 more
doaj +1 more source
Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected patients ...
Antonella Riva+10 more
doaj +1 more source
Friedreich’s ataxia (FRDA) is the most frequent autosomal recessive ataxia in western countries, with a mean age of onset at 10–15 years. Patients manifest progressive cerebellar and sensory ataxia, dysarthria, lower limb pyramidal weakness, and other ...
Sara Petrillo+8 more
doaj +1 more source
Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement
DNA repeat expansion disorders are a group of neuromuscular and neurodegenerative diseases that arise from the inheritance of long tracts of nucleotide repetitions, located in the regulatory region, introns, or inside the coding sequence of a gene ...
Piergiorgio La Rosa+3 more
doaj +1 more source
The ferroptosis inducer RSL3 triggers interictal epileptiform activity in mice cortical neurons
Epilepsy is a neurological disorder characterized by recurrent seizures, which result from excessive, synchronous discharges of neurons in different brain areas. In about 30% of cases, epileptic discharges, which vary in their etiology and symptomatology,
Michela Giustizieri+8 more
doaj +1 more source