Concepedia

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

Tania Fuchs, Sophie Gavarini, Rachel Saunders‐Pullman, Deborah Raymond, Michelle E. Ehrlich, Susan Bressman, Laurie J. Ozelius

Nature Genetics · 2009 · 331 citations · 12 references

DOI

Concepts

References

12

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

Laurie J. Ozelius, Jeffrey Hewett, Curtis E. Page et al. · Nature Genetics · 1997 · 1K citations

, , +7

Tolcapone

Stanley Fahn · Neurology · 1998 · 738 citations

, , +16

Concept and classification of dystonia.

Stanley Fahn · PubMed · 1988 · 523 citations

, , +7

Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families

Laura Almasy, Susan Bressman, Deborah Raymond et al. · Annals of Neurology · 1997 · 179 citations

, , +12

THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies

Myriam Roussigné, Corinne Cayrol, Thomas Clouaire et al. · Oncogene · 2003 · 158 citations

, , +6