Concepedia

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

Susan Bressman, Deborah Raymond, Tania Fuchs, Gary A. Heiman, Laurie J. Ozelius, Rachel Saunders‐Pullman

The Lancet Neurology · 2009 · 173 citations · 20 references

DOI

Concepts

References

20

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

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Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

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The <i>DYT1</i> phenotype and guidelines for diagnostic testing

Susan Bressman, Chiara Sabatti, Deborah Raymond et al. · Neurology · 2000 · 361 citations

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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

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Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism

Satoshi Makino, Ryuji Kaji, Satoshi Ando et al. · The American Journal of Human Genetics · 2007 · 286 citations · Full text

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