A. M. Bardelli

Schnyder corneal crystalline dystrophy: Description of a new family with evidence of abnormal lipid storage in skin fibroblasts

Carla Battisti, Maria Teresa Dotti, Alessandro Malandrini et al. · American Journal of Medical Genetics · 1998 · 65 citations

Ocular Disease, Dermatology, Neurology +17

MRI of Wolfram syndrome (DIDMOAD)

Paolo Galluzzi, G. Filosomi, Ignazio Maria Vallone et al. · Neuroradiology · 1999 · 50 citations

Medical Imaging, Neuroimaging, Wolfram Syndrome +6

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

Ilaria Meloni, Pietro Rubegni, G. De Aloe et al. · Human Mutation · 2001 · 48 citations · Full text

Coats Disease: Smaller Volume of the Affected Globe

Paolo Galluzzi, Carlo Venturi, Alfonso Cerase et al. · Radiology · 2001 · 31 citations

Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia

A. Fois, P. Borgogni, M. Cioni et al. · Journal of Inherited Metabolic Disease · 1986 · 29 citations