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One or more keywords matched the following items that are connected to Ozelius, Laurie
Item TypeName
Academic Article Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
Academic Article Pallidal deep brain stimulation for DYT6 dystonia.
Concept Apoptosis Regulatory Proteins
Academic Article Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
Academic Article Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Academic Article THAP1: role in focal dystonia?
Academic Article THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
Academic Article Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.
Academic Article Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Academic Article Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.
Academic Article Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
Academic Article Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.
Academic Article Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
Academic Article Phenotype- and genotype-specific structural alterations in spasmodic dysphonia.
Academic Article Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
Search Criteria
  • Apoptosis Regulatory Proteins
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.