Michela Morbin

TL;DR: An unanticipated link between a rare and a common neurological disorder is revealed and the pleiotropic effects of a mutation in the heterozygous or homozygous states are illustrated.

TL;DR: One individual presented with frontotemporal dementia, whereas his son has corticobasal degeneration, demonstrating that the same primary gene defect in tau can lead to 2 distinct clinical phenotypes.

TL;DR: An APP mutation that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mendelian trait of inheritance is found, with implications for genetic screening and the potential treatment of Alzheimer's disease.

TL;DR: Increased swelling ratio predicted the decrease in IENF density in patients with painful neuropathy and its quantification could support earlier diagnosis of sensory axonopathy.

TL;DR: It is demonstrated that neuron-specific inactivation of Phb2 in the mouse forebrain causes extensive neurodegeneration associated with behavioral impairments and cognitive deficiencies and establish an essential role of prohibitin complexes for neuronal survival in vivo and demonstrate that OPA1 stability, mitochondrial fusion, and the maintenance of the mitochondrial genome in neurons depend on these scaffolding proteins.