Edor Kabashi

This paper uses multiplex imaging and machine learning to profile cortical malformations in tuberous sclerosis complex, identifying key cell types and spatial patterns in lesions.

This paper characterizes a zebrafish kcnb1 knock-out model showing neurodevelopmental and epileptic features linked to GABA dysregulation.

The paper identifies novel drug candidates for ALS and monogenic diseases by analyzing drug-induced gene expression changes in human pluripotent stem cells using RNA sequencing.

This study shows that abnormal splicing of SORBS1 exon 25 in DM1 contributes to neuromuscular junction formation and stability issues in skeletal muscle.

The paper identifies NUP50 gene variants and reduced expression as risk factors for ALS through transcriptome-wide association and functional studies.

This study investigates the role of NEFL splicing and balance in zebrafish motor neuron development and function, showing that disruption of isoform balance leads to motor deficits and interacts with TDP-43 mislocalization.