Andrea Vettori

TL;DR: The presence of mutations in desmosomal encoding genes in 40% of cases confirms that many forms of ARVC are due to alterations in the desmosome complex.

TL;DR: Protein sequence comparisons suggest that intramolecular duplications have played an important role in the evolution of this gene family and three new genes encoding these CHAC-similar proteins are characterized.

TL;DR: Clinical and molecular data from a large Italian pedigree in which migraine without aura (MO) segregates as an autosomal dominant trait are reported, indicating the first evidence of a genetic locus associated with MO on chromosome 14.

TL;DR: This approach employed a transgenic line with pan-neuronal expression of the genetically-encoded calcium indicator GCaMP6s to measure neuronal activity in zebrafish larvae during seizures induced by pentylenetretrazole (PTZ), demonstrating the high sensitivity of this method to different levels of alteration.

TL;DR: The involvement of SIGMAR1 in motor neuron maintenance and survival is definitively demonstrated by correlating, for the first time in the Caucasian population, mutations in this gene to distal motor dysfunction and highlighting the chaperone activity of sigma-1R at the MAM as a critical aspect in dHMN pathology.