Concepedia

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

Ana Djarmati, Susanne A. Schneider, Katja Lohmann, Susen Winkler, Heike Pawlack, Johann Hagenah, Norbert Brüggemann, Simone Zittel, Tania Fuchs, Aleksandar Raković,

The Lancet Neurology · 2009 · 146 citations · 17 references

DOI

Concepts

References

17

Tolcapone

Stanley Fahn · Neurology · 1998 · 738 citations

, , +16

Concept and classification of dystonia.

Stanley Fahn · PubMed · 1988 · 523 citations

, , +7

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

Tania Fuchs, Sophie Gavarini, Rachel Saunders‐Pullman et al. · Nature Genetics · 2009 · 331 citations

, , +6

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

Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia

B. Müller, Katja Hedrich, Norman Kock et al. · The American Journal of Human Genetics · 2002 · 162 citations · Full text

, , +15