Paola Mandich

TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.

TL;DR: Using a positional-cloning strategy, mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP) are identified in unrelated CMT4B patients.

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: Data show that corticobasal degeneration and progressive supranuclear palsy, in addition to several clinical, pathological, and molecular features, may have the same genetic background.

TL;DR: The phenotype of amyotrophic lateral sclerosis cases carrying C9ORF72 hexanucleotide repeat expansions was described by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotroph lateral sclerosis.