N. Ticozzi

Towards a deep-learning genomic tool for risk stratification and diagnostic support in sporadic ALS

A variety of common and rare genetic factors have been implicated in the development of amyotrophic lateral sclerosis (ALS), and the evidence is that a genetic component is present in most affected individuals. However, our current understanding of ALS genetics causally explains only a small proportion of sporadi...

Unawareness of motor deficit in Huntington’s disease

Establishment of two iPSC lines from ALS patients carrying mutations in SQSTM1 and TBK1 genes.

The generation and characterization of two induced pluripotent stem cell lines are described, one derived from an ALS patient carrying the heterozygous SQSTM1 c.1175C > T (p.Pro392Leu) mutation and another derived from a patient carrying the heterozygous TBK1 c.2402A > T (p.His801Leu) variant of unknown significance.