Concepedia

Identification and functional analysis of novel THAP1 mutations

Katja Lohmann, Nils Uflacker, Alev Erogullari, Thora Lohnau, Susen Winkler, Andreas Dendorfer, Susanne A. Schneider, Alma Osmanovic, Marina Svetel, A. Ferbert,

European Journal of Human Genetics · 2011 · 54 citations · 20 references

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References

20

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

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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

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

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

Susan Bressman, Deborah Raymond, Tania Fuchs et al. · The Lancet Neurology · 2009 · 173 citations

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