Cristina Sampaio

Disruption of Striatal Intrinsic Ignition in Huntington's Disease: an In-Silico Perturbational Approach to Emulate Disease Progression and Recovery

This study uses computational modeling to simulate functional connectivity changes in Huntington's disease and assess recovery potential by perturbing striatal activity.

Large Scale Functional and Effective Connectivity Alterations cross the Huntington's Disease Integrated Staging System

This study uses fMRI to assess functional and effective connectivity changes across HD-ISS stages, finding attenuated connectivity in early stages and sensitivity to motion.

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects

The paper identifies genetic modifiers of somatic CAG expansion and clinical phenotypes in Huntington's disease, revealing shared and tissue-specific effects on disease timing and pathogenic processes.

Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

Huntington's disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.