Laura Bannach Jardim

The paper identifies eleven distinct ancestral haplotypes associated with SCA2 in South American populations, including an unexpected haplotype with a G allele at rs695871.

The paper develops a mathematical model to simulate the dynamics of CAG repeat expansions in SCA2 and SCA3/MJD, showing how generations pass before alleles are eliminated or fixed.

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.

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.