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References

These sources were used to develop the Genetics Home Reference gene summary on the TBP gene.

Bauer P, Laccone F, Rolfs A, Wüllner U, Bösch S, Peters H, Liebscher S, Scheible M, Epplen JT, Weber BH, Holinski-Feder E, Weirich-Schwaiger H, Morris-Rosendahl DJ, Andrich J, Riess O. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet. 2004 Mar;41(3):230-2. PubMed citation
Entrez Gene
Gao R, Matsuura T, Coolbaugh M, Zühlke C, Nakamura K, Rasmussen A, Siciliano MJ, Ashizawa T, Lin X. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008 Feb;16(2):215-22. Epub 2007 Nov 28. PubMed citation
Rasmussen A, De Biase I, Fragoso-Benítez M, Macías-Flores MA, Yescas P, Ochoa A, Ashizawa T, Alonso ME, Bidichandani SI. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol. 2007 Jun;61(6):607-10. PubMed citation
Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 2003 Sep;54(3):367-75. PubMed citation
Schneider SA, van de Warrenburg BP, Hughes TD, Davis M, Sweeney M, Wood N, Quinn NP, Bhatia KP. Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology. 2006 Nov 14;67(9):1701-3. PubMed citation
van Roon-Mom WM, Reid SJ, Faull RL, Snell RG. TATA-binding protein in neurodegenerative disease. Neuroscience. 2005;133(4):863-72. Review. PubMed citation
Zühlke C, Hellenbroich Y, Dalski A, Kononowa N, Hagenah J, Vieregge P, Riess O, Klein C, Schwinger E. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet. 2001 Mar;9(3):160-4. PubMed citation


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