Katia Cortese

Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are devastating neurodegenerative diseases linked by similar pathological mechanisms, which, in some familial forms, may be associated with the same genetic alterations. Among them, the most common is the C9ORF72 (C9) mutation. The C9 mutation consists in an aberrant expansion of the hexanucleotide repeat (G4C2)n that leads to the production and accumulation of toxic dipeptide repeat proteins (DPRs).

This version is not peer-reviewed. You are already at the latest version Internationalization has become a central feature of contemporary higher education, yet collaborations and doctoral training across institutional and cultural contexts often involve persistent asymmetries.

In recent decades, molecular biology and omics technologies have profoundly reshaped biomedical research, with genomics, proteomics, and other high-throughput approaches dominating scientific agendas and funding priorities. Within this molecular paradigm, however, the anatomical sciences face an epistemic and institutional tension: morphology, historically grounded in the study of form, structure, and spatial relationships, is increasingly framed as merely descriptive or obsolete.