Keywords: neurogenetics, mitochondrial diseases
Scientific and research activity of Dr Michelangelo Mancuso has mainly been conducted in the field of mitochondrial, neuromuscular and neurodegenerative diseases. Sectors of interest are epidemiological and clinical-molecular correlation studies in muscular pathologies, investigations of genotype-phenotype interrelationships and physiopathology of metabolic alterations in mitochondrial diseases, assessment of biological and genetic markers in amyotrophic lateral sclerosis, Alzheimer's disease and other genetic neuromuscular and neurodegenerative disorders. Dr Michelangelo Mancuso is co-responsible for biochemical studies on the respiratory chain, performed on muscle specimens especially for the diagnostic approach to mitochondrial disorders, and for genetic and molecular studies of the Laboratory of Clinical Neurobiology and Neurochemistry, Neurological Clinic, Department of Neuroscience (Pisa). He also directs the Clinical Neurogenetic Ambulatory of the Neurological Institute of Pisa. He already performed biochemical studies on the role of oxidative stress and mitochondrial dysfunction in Alzheimer disease, as well as in other neurodegenerative disorders such as Amyotrophic lateral sclerosis. Finally, he studied the role of oxidative stress in mitochondrial disorders, and the role of Coenzyme Q10 in neuromuscular diseases. As a whole results of his research activity have been presented in national and international congresses and published for a number of more than 120 full papers on peer-rewieved Life Science/Current Contents cited scientific journals.
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