Rare mutations in the gene encoding for tau (MAPT, microtubule-associated protein tau)
cause frontotemporal dementia-spectrum (FTD-s) disorders, including FTD, progressive …

Objective: Tourette’s syndrome is polygenic and highly heritable. Genome-wide association
study (GWAS) approaches are useful for interrogating the genetic architecture and …

Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal
development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly …

Whole-exome sequencing (WES) and de novo variant detection have proven a powerful
approach to gene discovery in complex neurodevelopmental disorders. We have completed …

Purpose We investigated the value of transcriptome sequencing (RNAseq) in ascertaining
the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from …

We previously established the contribution of de novo damaging sequence variants to
Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an …

Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease for
which the genetic contribution is incompletely understood. Methods We conducted a joint …

Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving
multiple interacting genes. Here, we sought to elucidate the pathways that underlie the …

Most population isolates examined to date were founded from a single ancestral population.
Consequently, there is limited knowledge about the demographic history of admixed …

Introduction The Advancing Research and Treatment for Frontotemporal Lobar Degeneration
(ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (…