Ignazio Stefano Piras

The paper identifies reduced Golgi enzymes MAN1A1 and MAN1A2 in ALS-associated microglia and astrocytes, linking impaired glycan metabolism to neuroinflammation and disease mechanisms.

This study uses multi-omic profiling of synaptosomes to identify molecular changes in C9-FTD, revealing disrupted synaptic pathways and localized cryptic transcripts.

The paper uses pseudotime analysis on bulk RNA-seq data from Alzheimer's disease brains to identify conserved and region-specific molecular programs across nine brain regions.

The paper identifies an oligodendrocyte DNA methylation signature in Alzheimer's disease that is preserved across brain regions and disease stages, and is associated with altered gene expression in OLGs.

This study uses bulk RNA-seq to analyze transcriptional changes in the middle temporal gyrus across Alzheimer's disease and aging, identifying distinct gene expression patterns and pathways associated with each condition.

The paper identifies molecular programs coordinated with NPTX2 that distinguish cognitive resilience in AD pathology from non-pathological cognition and AD.

This study performs a phenome-wide association analysis of APOE alleles in the All of Us Research Program, identifying significant associations with various health outcomes and highlighting sex and ancestry differences.

This study uses whole genome sequencing and AI to identify genetic variants associated with TDP43-Type-C neurodegeneration, finding novel links to FIG4, UBQLN2, INPP5A, and ANXA11.

This study identifies genetic variants associated with liver fat in normal-weight individuals using GWAS and TWAS, highlighting potential causal genes like SAMM50 and novel associations like RFXANK.

The paper investigates how Celsr3 mutations affect tic-like behaviors in mice by examining striatal dopamine receptor alterations.

This study profiles RNA expression in MSA cerebellar tissue, identifying distinct transcriptional signatures between parkinsonian and cerebellar subtypes, with greater dysregulation observed in the cerebellar subtype.

The paper identifies genes associated with Rett syndrome-like (RTT-L) phenotype through whole exome sequencing and protein-protein interaction network analysis, revealing shared pathways with classical Rett syndrome.