Roberta La Piana

AMPD2 deficiency causes variable-onset Leigh syndrome and implicates cytosolic purine balance in the structural preservation of respiratory complex V

This paper identifies bi-allelic AMPD2 variants as a cause of Leigh syndrome, showing they lead to complex V assembly defects and cytosolic purine imbalance.

Enhancing Variant of Uncertain Significance (VUS) Interpretation in Neurogenetics: Collaborative Experiences from a Tertiary Care Centre

The paper describes how multidisciplinary VUS Rounds help classify and manage variants of uncertain significance in neurogenetics patients.

An adapted stem cell-derived microglia protocol for the study of microgliopathies and other neurological disorders

The paper optimizes an iMGL protocol to generate microglia-like cells from an ALSP patient, revealing functional defects in migration and phagocytosis.

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia

The paper develops and validates a strategy to detect FGF14 GAA repeat expansions using PCR and Sanger sequencing, showing comparable accuracy to nanopore sequencing and suitable for clinical use.