Sali M.K. Farhan

This study identifies ARPP21 as a TDP-43-independent aggregation pathway in ALS, showing its role in forming non-ubiquitinated aggregates and promoting intercellular propagation.

This paper conducts a meta-analysis to determine the lower limit of ATXN2 repeat expansions associated with ALS risk, finding that ≥30 repeats define significant risk.

The paper identifies novel disease-associated target genes by analyzing transcriptional pathways linked to definitive ALS genes using RNA sequencing and single-nuclei transcriptomics.

This study uses snRNA-seq data from post-mortem Parkinson's disease tissue to identify altered molecular pathways in microglia and astrocytes, showing upregulated protein misfolding responses and downregulated inflammation-related genes.

This study identifies rare copy number duplications in protein coding regions as risk factors for essential tremor, but does not reliably identify specific susceptibility genes.

The paper identifies MLN4924 as a compound that improves cell viability in TDP-43 mutant motor neurons by targeting NEDD8-activating enzyme.

Ensemblex improves accuracy in genetic demultiplexing of pooled scRNA-seq samples by combining four algorithms with accuracy weighting.

The paper introduces the Neurodegenerative Disease Knowledge Portal (NDKP), an open-science platform aggregating genomic datasets for neurodegenerative diseases to enable collaborative analysis and discovery.

The paper investigates oligogenic risk in ALS using genome sequencing data, finding that multiple rare variants in known ALS genes increase disease risk but not clinical outcomes.

Segpy is a user-friendly pipeline for variant segregation analysis that supports single-family, multi-family, and population-based datasets to evaluate genetic variant co-segregation with disease.

The paper uses machine learning on single-nuclei RNA sequencing data to identify GPC6 as a genetic risk factor for Parkinson's disease.

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

scRNAbox provides an HPC-friendly scRNA-seq analysis pipeline with quality control, integration, clustering, annotation, and differential expression analysis.

This study evaluates REVEL and CADD in predicting pathogenic variants in ALS-associated genes, finding REVEL has a clear threshold while CADD lacks accuracy for variants of uncertain significance.

The paper characterizes proteomic and transcriptomic features of missense variants in ALS genes and identifies enriched structural and functional properties associated with pathogenicity.

MTSviewer integrates tools to visualize mitochondrial targeting sequences, cleavage sites, mutations, and structural data for human and yeast mitochondrial proteomes.

The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.

This study performs sex-stratified RNA-seq analysis of TBI-affected brain regions and identifies female-specific gene modules linked to dementia in TBI donors.

This study analyzes rare and common variants in ALS using French-Canadian data, finding that PRS and rare variants independently affect risk but do not interact significantly.

The paper investigates the association between STMN2 CA repeats and ALS risk using whole genome sequencing data and finds no significant association.

This study examines the relationship between white matter hyperintensities, cortical thickness, and empathy in neurodegenerative and cerebrovascular diseases, finding associations with specific brain regions and demographic factors.

The paper examines how APOE ε2 and ε4 variants affect hippocampus-default network subregion co-variation, revealing sex-specific associations with lifestyle and health traits.

This study identifies 690 candidate ALS genes using a hierarchical Bayesian model, highlighting genetic convergence on the distal axon and functional significance in motor neurons.

This study shows that reducing tau with a degrader prevents mitochondrial fragmentation and oxidative stress in ALS models.

The paper identifies non-coding variants in the IL18RAP 3'UTR that reduce ALS risk by modulating neuro-inflammation through NF-κB signaling in microglia.

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.