Selected Publications

Tetsuo Ashizawa, M.D.

John Sealy Professor and Chairman

1.   Matsuura, T., Yamagata, T., Burgess, D.L., Rasmussen, A., Grewal, R.P., Watase, K., Khajavi, M., McCall, A., Caleb F. Davis, C.F., Zu, L., Achari, M., Pulst, S.M., Alonso, E., Noebels, J.L., Nelson, D.L., Zoghbi, H.Y., Ashizawa, T. Large Expansion of ATTCT Pentanucleotide Repeat in Spinocerebellar Ataxia Type 10.  Nat Genet 2000;26:191-194.

2.   Tan E-K, Nagamitsu S, Khajavi M, Thornby A, Jankovic J, Ashizawa, T.: Variability and Validity of Polymorphism Association Studies in Parkinson’s Disease. Neurology 2000;55:533-538

3.   Nagamitsu S, Matsuura T, Khajavi M, Armstrong R, Gooch C, Harati Y, Ashizawa, T.  A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Neurology 2000;55:1697-1703.

4.   Khajavi M, Tari AM, Patel NB, Tsuji K, Siwak DR, Meistrich ML, Terry NHA, Ashizawa, T. “Mitotic Drive” of expanded CTG repeats in myotonic dystrophy type 1 (DM1). Hum Mol Genet 2001;10:855-863

5.   Nagamitsu S, Ashizawa, T. Myotonic dystrophies. Adv Neurol. 2002;88:293-314.

6.   Rosa AL, Ashizawa, T. Genetic Ataxia. Neurol Clinic 2002:20:727-757.     

7.   Fu Y-H, Friedman DL, Richards S, Pearlman JA, Gibbs Ra, Pizzuti A, Ashizawa, T., Perryman MB, Scalato G, Fenwick RG, Jr. Caskey CT.  Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.  Science 1993; 260: 235-238

8.   Zhuchenko O, Bailey J, Bonnen P, Ashizawa, T. Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC.  Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a 1A-voltage-dependent calcium channel.  nature Genet 1997; 15:62-69

9.    Zhuchenko O, Bailey J, Bonnen P, Ashizawa, T., Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A-voltage-dependent calcium channel.  Nature Genet 1997;15:62-69

10. Bidichandani SI, Ashizawa, T., Patel P. The GAA triplet repeat expansion in Friedreich’s ataxia interferes with transcription and may be associated with an unusual DNA structure.  Am J Hum Genet 1998;62:111-121

11. Matsuura T, Achari M, Khajavi M, Bachinski LL, Zoghbi HY, Ashizawa, T. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.  Ann Neurol 1999;45: 407-411

12.  Monckton DG, Cayuela ML, Gould FK, Brock GJR, de Silva R, Ashizawa, T.: Massive (CAG)n DNA repeat expansions in the sperm of spinocerebellar ataxia type 7 males. Hum Mol Genet 1999;8:2473‑2478

13.  Matsuura, T., Yamagata, T., Burgess, D.L., Rasmussen, A., Grewal, R.P., Watase, K., Khajavi, M., McCall, A., Caleb F. Davis, C.F., Zu, L., Achari, M., Pulst, S.M., Alonso, E., Noebels, J.L., Nelson, D.L., Zoghbi, H.Y., Ashizawa, T. Large Expansion of ATTCT Pentanucleotide Repeat in Spinocerebellar Ataxia Type 10.  Nat Genet 2000;26:191-194

14.   Khajavi M, Tari AM, Patel NB, Tsuji K, Siwak DR, Meistrich ML, Terry NHA, Ashizawa, T. “Mitotic Drive” of expanded CTG repeats in myotonic dystrophy type 1 (DM1). Hum Mol Genet 2001;10:855-863

15.   Matsuura T, Ashizawa, T. Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10. Ann Neurol 2002;51:271-272.

16.  Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP,  Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa, T.  Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.  Am J Hum Genet 2004:74;1216-1224.

17.   Wakamiya M, Matsuura T, Liu Y, Schuster GC, Gao R, Xu W, Sarkar PS, Lin X, Ashizawa, T. The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology 2006;67:607-613.