Bertini Enrico Silvio

Bertini is currently the Head of the Unit of Neuromuscular and Neurodegenerative Disorders and the Laboratory of Molecular Medicine at the Bambino Gesu’ Children’s Hospital IRCCS in Rome.

Scientific Societies Memberships
Child Neurology Society, World Muscle Society, ICNA, Associazione Italiana di Miologia. 

Research Interest
Diagnosis and follow-up of neuromuscular disorders; Trials in Spinal Muscular Atrophy; Collagen VI deficiency disorders; Congenital muscular dystrophies; Mitochondrial disorders; spastic paraplegia; Leukodystrophies; Congenital Ataxia. 

Journal Reviews
Annals of Neurology, Neurology, Journal of Medical Genetics, Brain, American Journal of Human Genetics, European Journal of Human Genetics, Human Molecular Genetics, Brain Research, Neurogenetics,Clinical Genetics, Neuropediatrics, Neuromuscular Disorders, Genes, Journal of Inherited and Metabolic Disorders, Journal of Neurology, Journal of Neurological Sciences; Orphanet Journal of Rare Diseases.