Primary early-onset generalized dystonia is an autosomal dominant disorder caused by a
deletion (ΔGAG) in the DYT1 gene encoding torsinA. The gene defect has incomplete …

DYT1 dystonia is a severe form of inherited dystonia, characterized by involuntary twisting
movements and abnormal postures. It is linked to a deletion in the dyt1 gene, resulting in a …

A single GAG deletion in Exon 5 of the TOR1A gene is associated with a form of early-onset
primary dystonia showing less than 40% penetrance. To provide a framework for cellular …

A trinucleotide deletion of GAG in the DYT1 gene that encodes torsinA protein is implicated
in the neurological movement disorder of Oppenheim's early-onset dystonia. The mutation …

DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA.
How these mutations cause dystonia remains unknown. Mouse models which have …

Early-onset dystonia is an autosomal dominant movement disorder associated with deletion
of a glutamic acid residue in torsinA. We generated four independent lines of transgenic …

A three-base-pair deletion in the torsinA gene leads to generalized torsion dystonia (DYT1)
in humans, an often devastating movement disorder in which voluntary movements are …

Early-onset torsion dystonia (DYT1) is an autosomal-dominant movement disorder
characterized by sustained muscle contractions and abnormal posturing. It is caused by a …

In inherited neurodevelopmental diseases, pathogenic processes unique to critical periods
during early brain development may preclude the effectiveness of gene modification …

Lack of a preclinical model of primary dystonia that exhibits dystonic-like twisting movements
has stymied identification of the cellular and molecular underpinnings of the disease. The …