Leonidas Stefanis

This paper evaluates combining expression-based surrogate variables and genotype-based principal components in differential expression analysis, finding the combined approach improves replicability and biological recall in ALS datasets.

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

This study evaluates PHP.eB AAVs for reducing alpha-synuclein burden in a mouse model of alpha-synucleinopathies, showing reduced pathology and motor deficits.

The paper outlines the protocol for integrating genetic and clinical data from a global cohort of over 150,000 participants to study the genetic causes of sporadic Parkinson's disease.

Flame (v2.0) integrates and visualizes functional enrichment results from multiple tools, supporting more organisms and offering interactive analysis features.

This study investigates how microglia and astrocytes internalize and sort brain-derived exosomes, showing differential uptake efficiency and endosomal trafficking of exosome-associated alpha-synuclein.

The paper investigates the relationship between LRRK2 and GCase activities in Parkinson's disease models and biospecimens, finding a positive correlation.

The paper identifies distinct phosphorylation patterns of LRRK2 and Rab GTPases in different Parkinson's disease cohorts, highlighting the need for multiple targets in pharmacodynamic assessments.

The paper compares TDP-43's transcriptional and splicing effects in muscle and neuronal cells, showing tissue-specific roles in disease.

The paper identifies a kinase inhibitor, BX795, that rescues pathological phenotypes in a patient-derived Parkinson's disease model through proteomic analysis and high-content screening.

This study creates a double-hit mouse model combining GBA1 downregulation and alpha-synuclein overexpression to show synergistic nigrostriatal neurodegeneration in Parkinson's disease.

The paper uses unsupervised machine learning to identify three molecular subtypes in ALS cortex samples, associated with oxidative stress, retrotransposon activation, and glial activation.