João Vasconcelos

This study identifies blood transcript levels of DDIT4 and TRIM13 as potential biomarkers for early-stage Machado-Joseph disease, showing high accuracy in distinguishing carriers from controls.

The paper assesses apoptosis-related gene expression in MJD patients and mice to identify potential biomarkers and tissue-specific apoptosis vulnerability.

The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.

This study identifies nine genetic loci associated with age at onset in Machado-Joseph disease, suggesting roles for DNA repair and synaptic pathways in disease progression.