Carla Battisti

TL;DR: An overview of the involvement of neuronal apoptosis and oxidative stress in the most important neurodegenerative diseases is presented, mainly focusing the attention on several genetic disorders, discussing the interaction between primary genetic abnormalities and the apoptotic pathways.

TL;DR: The SLC30A10 mutations cause a treatable recessive disease with pleomorphic phenotype with broad implications for understanding of the manganese biology and pathophysiology in multiple human organs and compelling evidence that SLC 30A10 plays a pivotal role inManganese transport is provided.

TL;DR: The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by the authors' group and by others since the WRN gene was first cloned in 1996; 25 of these have not previously been published.

TL;DR: According to the literature analysis reported in the present review, the combination of the CSF markers and their ratios may significantly increase the specificity and the accuracy of AD diagnosis.

TL;DR: It is reported that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome and establishes a genetic link between these disorders and delineates the impact of ZBT B20 dysregulation on development, growth and metabolism.