The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …

Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …

Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a
dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on …

Neurodegenerative diseases cause progressive loss of cognitive and/or motor function and
pose major challenges for societies with rapidly aging populations. Human genetics studies …

Transcranial magnetic stimulation (TMS) is a powerful tool to probe in vivo brain circuits, as it
allows to assess several cortical properties such as excitability, plasticity and connectivity in …

Persistent DNA double-strand breaks (DSBs) in neurons are an early pathological hallmark
of neurodegenerative diseases including Alzheimer's disease (AD), with the potential to …

Neurons are highly susceptible to DNA damage accumulation due to their large energy
requirements, elevated transcriptional activity, and long lifespan. While newer research has …

Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

A comprehensive genetics-based precision medicine strategy to selectively and
permanently inactivate only mutant, not normal allele, could benefit many dominantly …