Joel S. Perlmutter

Parietal Cortex Transcriptomics Refines Parkinson Disease GWAS Nomination and Highlights STAT3 as a Putative Upstream Glial Regulator

This study integrates parietal cortex transcriptomics with GWAS data to refine Parkinson's disease risk gene nominations and identify STAT3 as a potential upstream glial regulator.

Temporal-orbitofrontal pathway regulates choices across physical reward and visual novelty

The paper investigates how perceptual novelty and reward value interact in decision-making by identifying a neural pathway between the anterior ventral temporal cortex and orbitofrontal cortex.

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

Structure of alpha-synuclein fibrils derived from human Lewy body dementia tissue

This study determines the atomic structure of alpha-synuclein fibrils from Lewy body dementia tissue using a novel amplification method and solid-state NMR.

Chronic striatal cholinergic interneuron excitation induces clinically-relevant dystonic behavior in mice

Chronic excitation of striatal cholinergic interneurons in mice induces clinically-relevant dystonic leg adduction variability, supporting their role in dystonia and suggesting therapeutic targets.

Genome-wide association, Mendelian Randomization and polygenic risk score studies converge on a role of beta-amyloid and APOE locus in Parkinson disease

The paper uses GWAS, PRS, and MR to show a genetic link between Parkinson's disease and CSF Aβ42 and APOE locus.

Removal of high frequency contamination from motion estimates in single-band fMRI saves data without biasing functional connectivity

This paper identifies and removes high-frequency motion artifacts in single-band fMRI data, improving motion estimates and reducing data loss without biasing functional connectivity.

Mapping movement, mood, motivation, and mentation in the subthalamic nucleus

This study uses a 3D analysis to show that dorsal STN DBS improves motor function more than ventral STN DBS, but motor and non-motor effects overlap significantly.