The discovery of biological pathways shared between different monogenic dystonias is an
important conceptual advance in the understanding of the underlying mechanisms, with a …

Herein, we discuss data concerning the involvement of transcription factor Yin Yang 1 (YY1)
in the development of brain diseases, highlighting mechanisms of its pathological actions …

Introduction Although shared genetic factors have been previously reported between
dystonia and other neurologic conditions, no sequencing study exploring such links is …

X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the
Philippines. The genetic cause for XDP is an insertion of a SINE-VNTR-Alu (SVA)-type …

Dystonia is a disabling disease that manifests as prolonged involuntary twisting movements.
DYT-THAP1 is an inherited form of isolated dystonia caused by mutations in THAP1 …

Animal and human brain-imaging studies have suggested a role for neurodevelopmental
abnormalities in the pathophysiology of dystonia. Variants in neurodevelopmental genes …

Yin and Yang 1 gene (YY1; MIM# 600,013) is recognized as a dual transcriptional activating
and repressing factor, RNA-binding protein, and 3D chromatin regulator, with multi roles in …

Abstract Purpose Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder
characterized by developmental delay and/or intellectual disability, hypotonia, feeding …

Background The genetic landscape of neurodevelopmental disorders is constantly
expanding and children with early-onset neurological phenotypes increasingly receive a …

Originally described as a risk factor for autism, CHD8 loss‐of‐function variants have recently
been associated with a wider spectrum of neurodevelopmental abnormalities. We further …