Jeffrey D. Long

Loss of ASIC1A-dependent inhibitory neuron activity in basolateral amygdala is associated with increased CO2-evoked jumping

This study shows that loss of ASIC1A in the basolateral amygdala increases CO2-evoked jumping and reduces freezing in mice.

Huntingtin CAG repeat is a continuous modifier of brain structure and health vulnerability

This study shows that HTT CAG repeat length within the normal and intermediate range is associated with brain structure and neuropsychiatric risk, challenging the view of CAG repeats as purely categorical.

Global functional connectivity of cognitive control network predicts task-switching performance in older adults

The paper examines how global functional connectivity of the default mode network (DMN) relates to task-switching performance in older adults, finding that lower mixing costs correlate with greater negative DMN connectivity.

Increased frequency of repeat expansion mutations across different populations

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

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.

Functional Connectivity of the Cerebellar Vermis in Bipolar Disorder and Associations with Mood

This study examines functional connectivity of the cerebellar vermis in bipolar disorder and its association with mood states, finding altered connectivity patterns linked to depression and mania.

Cerebellar Morphological Differences in Bipolar Disorder Type I

This study finds smaller cerebellar cortex volumes in bipolar disorder type I patients, with medication use potentially influencing cerebellar structure.

Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

The paper identifies a tandem hexamer repeat in TCERG1 that modifies age at motor onset in Huntington's disease, explaining the effect of a previously associated SNP.

FAN1 nuclease activity affects CAG expansion and age at onset of Huntington's disease

The paper identifies FAN1 nuclease activity as a modifier of CAG expansion and age at onset in Huntington's disease through exome sequencing and functional validation.

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.