F. Pistone

An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.

M. Raghunath, A. Superti-Furga, B. Steinmann, 1993, Connective tissue research.

Familial megaconial myopathy: a real nosologic entity. Clinical and histopathologic studies in two siblings.

G. Scarlato, M. Moggio, G. Pellegrini, 1983, Acta neuropathologica.

Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.

A. Superti-Furga, B. Steinmann, C. Romano, 1989, Journal of medical genetics.

Delayed Triple‐Helix Formation of Abnormal Type I Collagen Is Corrected by Reduced Temperature

A. Superti-Furga, B. Steinmann, P. Royce, 1988, Annals of the New York Academy of Sciences.

Familial megaconial myopathy: A real nosologic entity

G. Scarlato, M. Moggio, G. Pellegrini, 2004, Acta Neuropathologica.

Pathogenesis of rheumatoid arthritis: one year in review 2023.

A. Alunno, I. Puxeddu, F. Pistone, 2023, Clinical and experimental rheumatology.