Summary 25% of all people aged 55 years and older have a family history of dementia. For
most, the family history is due to genetically complex disease, where many genetic …

Huntington's disease (HD) is a late-onset neurodegenerative disorder that is caused by a
CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine …

Junctophilins (JPHs) comprise a family of structural proteins that connect the plasma
membrane to intracellular organelles such as the endo/sarcoplasmic reticulum (ER/SR) …

The basal ganglia were originally thought to be associated purely with motor control.
However, dysfunction and pathology of different regions and circuits are now known to give …

Purpose This study aimed to unravel the genetic factors underlying missing heritability in
spinocerebellar ataxia type 17 (SCA17) caused by polyglutamine-encoding CAG/CAA …

In both excitable and nonexcitable cells, diverse physiological processes are linked to
different calcium microdomains within nanoscale junctions that form between the plasma …

An expansion of a trinucleotide CAG repeat on chromosome 4 causes Huntington disease.
The abnormal elongation of the CAG increases the polyglutamine stretch of huntingtin …

Major insights have been attained into the molecular pathology of the trinucleotide repeat
neurodegenerative diseases over the past decade. Genetic definition has allowed …

Structural variations of the human brain are heritable and highly polygenic traits, with
hundreds of associated genes identified in recent genome-wide association studies …

Purpose CAG/CAA repeat expansions in TBP> 49 are responsible for spinocerebellar ataxia
(SCA) type 17 (SCA17). We previously detected cosegregation of STUB1 variants causing …