The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.

Based on our previous finding of the p.A382T founder mutation in ALS patients with concomitant parkinsonism in the Sardinian population, we hypothesized that the same variant may underlie Parkinson's disease (PD) and/or other forms of degenerative parkinsonism on this Mediterranean island. We screened a cohort of 611 patients with PD (544 cases) and other forms of degenerative parkinsonism (67 cases) and 604 unrelated controls for the c.

Compressive behaviour of child and adult cortical bone.

In this study, cortical bone tissue from children was investigated. It is extremely difficult to obtain human child tissue. Therefore, the only possibility was to use bone tissue, free from any lesion, collected from young bone cancer patients.