G. Fruscio

Dominant muscular dystrophy with a novel SYNE1 gene mutation

C. Angelini, A. Nascimbeni, V. Nigro, 2015, Muscle & nerve.

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

N. Bresolin, G. Comi, S. Corti, 2017, Muscle & nerve.

The Italian LGMD registry : relative frequency , clinical features , and differential diagnosis

Tiziana, N. Bresolin, G. Comi, 2016 .

Prediction of Rare Single-Nucleotide Causative Mutations for Muscular Diseases in Pooled Next-Generation Sequencing Experiments

Mario Rosario Guarracino, Maria Brigida Ferraro, Marco Savarese, 2014, J. Comput. Biol..

Clinical, biochemical and molecular characterization of prosaposin deficiency

M. Tartaglia, M. Motta, V. Nigro, 2016, Clinical genetics.