Area of research
Molecular Biology · Rheumatology
Research interest
Research interests include Biology, Mitochondrion, Medicine, Computational biology, Neuroscience, and Mitochondrial disease.
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
PERK recruits E-Syt1 at ER–mitochondria contacts for mitochondrial lipid transport and respiration
Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits
PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients
Melanoma addiction to the long non-coding RNA SAMMSON
PARL: The mitochondrial rhomboid protease
“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure
Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells