Silvio Peluso

TL;DR: A novel measure of disease progression and a genome-wide significant signal on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2 is generated, suggesting this mechanism as an area for future therapeutic investigation.

TL;DR: TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness, benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death.

TL;DR: Patients affected by aPL-related chorea have an increased risk of thrombosis and should receive antiplatelet or anticoagulant treatment, and neuroimaging investigation does not provide much additional diagnostic information.

TL;DR: The aim of this study is to review the literature on AAT for elderly people with dementia and psychiatric disorders and suggest other fields of possible application for AAT.

TL;DR: 3 patients of an Italian family carrying the S145X mutation in the TITF‐1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment with congenital hypothyroidism and neonatal respiratory distress are described.