Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

This publication has 21 references indexed in Scilit:

• Regional metabolism in primary torsion dystonia
  Neurology, 2004
• THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies
  Oncogene, 2003
• Diagnostic criteria for dystonia in DYT1 families
  Neurology, 2002
• Nomenclature for the description of human sequence variations
  Human Genetics, 2001
• DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset
  Annals of Neurology, 2001
• The DYT1 phenotype and guidelines for diagnostic testing
  Neurology, 2000
• Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
  Human Molecular Genetics, 1996
• Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
  Annals of Neurology, 1994
• The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.
  1994
• Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance
  Annals of Neurology, 1989