Gabriele Siciliano

Present position: Full Professor in Neurology, Department of Clinical and ExperimentalrnMedicine, University of Pisa.rnPresident of Italian Association of Myology (AIM), since 2015 to date.

Academics and Professionals: Degree in Medicine: University of Pisa,l 27/6/1980, cum laude.rnSpecialization in Neurology: University of Pisa, 15/11/1984, cum laude, Thesis: “Methods of clinical evaluation of motor function in Duchenne Muscular Dystrophy”. Specialization in Physical and Rehabilitation Medicine: University of Pisa, 21/7/1992, Thesis: “Muscle metabolic aspects of fatigue in normals as evaluated by means of Phosphorus31 Spectroscopic Nuclear Magnetic Resonance during submaximal contraction”;. PhD in Neurological and Neurosensorial Sciences (University of Ancona, 2/10/1990), Thesis: “Central and peripheral mechanisms of muscle fatigue in normals and in neuromuscular diseases”. Post-Doctoral Research in Neurosciences: University of Ancona, from 16/9/1991 to 15/9/1993. Neurologist Assistant Register: at Neurological Clinic, University of Pisa, from 1993 to 1997. University Researcher Department of Neuroscience, University of Pisa from 1997 to 2001. University Associated Professor in Neurology (MED/26). Department of Clinical and Experimental Medicine, University of Pisa from 2001 to 2015.rnrnResearch activities and interests: Since 1993 he is responsible for the Unit of Neuromuscular rnDiseases and for the Laboratory of Molecular Diagnosis in the former Department ofrnNeuroscience, now Department of Clinical and Experimental Medicine – Neurological Clinics – University of Pisa, with main interests in clinical, laboratory and molecular aspects ofrnneurodegenerative and neurogenetic disorders, acquired and genetic diseases of peripheralrnnervous system and skeletal muscle. These activities are conducted in collaboration withrnsome overseas centres and laboratories. Since 1986 he has been engaged in studies onrnmuscular dystrophies, metabolic diseases of muscle and motorneuron diseases. In particular,rnhe has studied several issues on muscle fatigue, in collaboration with the Muscle Research Centre, University of Liverpool (Prof. RHT Edwards), exercise in normal and myopathicrnsubjects, motorneuron output evaluation in amyotrophic lateral sclerosis, subsarcolemmalrnexcitability in myotonic syndromes and muscular dystrophies, analysis of metabolicrnparameters in McArdle’s disease and mitochondrial myopathies. In the same period he has been engaged in epidemiological and therapeutical studies on neuromuscular disorders, in particular the use of selenium in Steinert disease, idebenone in mitochondrial myopathies,rnmexiletine in congenital myotonia, TRH and riluzole in amyotrophic lateral sclerosis. As far asrnmitochondrial myopathies are concerned, he is currently studying the effects of aerobicrntraining programs, the relationship between metabolic and catecholaminergic systems duringrnexercise, the pathogenic role of mitochondrial transcription factors, the diagnostic usefulnessrnof magnetic resonance spectroscopic techniques. Furthermore, he is working on the possiblernrole of mitochondrial involvement and oxidative stress in the pathogenesis ofrnneurodegenerative disorders. All these activities have led to a scientific production volumernrepresented by near 300 full papers, in specialized cited international journals, dealing withrnthe above indicated arguments, funded projects from Institutional and Charity bodies, responsibility in research evaluation committees for public and private funding researchrnbodies, participation to national and international clinical trials performed according to GCP (last GCP training certificate obtained in 19 February 2016).

He has been the Coordinator of the nation−wide Italian collaborative network established inrn2009 (granted by Telethon-UILMD GUP09004), that has already developed a web-basedrnregistry of patients with mitochondrial diseases. They have collected 1400 patients, withrnonset of the disease in both adulthood and in childhood.

Gabriele's Network Involvement

Gabriele is involved in these different areas of the network...
Board of Healthcare Providers - Member


Poster title - The development of a mobile app for patients with Pompe disease and its possible clinical applications
Presented – November 2017
EURO-NMD 1st Annual Meeting - Freiburg, Germany.

Healthcare Provider

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