INVITED AND SPECIAL SESSIONS
Thursday, October 27
8:00 AM-10:30 AM
Concurrent Platform Sessions I (19-25) Click on abstract number to view full text
SESSION 23 - Mendelian I: Neurogenetic Disorders
Ballroom A-D
Co-Moderators: Forbes Porter, HDB/NICHD, Rockville, MD; and Joseph G. Gleeson, University of California, San Diego
47/8:00 Fukutin interacts with and modulates POMGnT1. H. Xiong, K. Kobayashi, M. Tachikawa, H. Manya, T. Chiyonobu, Y. Nagai, T. Endo and T. Toda.
48/8:15 Deficiency of a Neuron-specific Isoform of the TAF1 Gene Is Associated with X-linked Dystonia-Parkinsonism. S. Makino, S. Ando, M. Tomizawa, H. Ando, S. Goto, S. Matsumoto, D. Tabuena, E. Maranon, M. Dantes, L. V. Lee, K. Ogasawara, I. Tooyama, H. Akatsu, M. Nishimura, R. Kaji and G. Tamiya.
49/8:30 Generation and characterization of a mouse model of paroxysmal non-kinesigenic dyskinesia. J. Nakayama, Y. Xu, H. Y. Lee, R. Tu, M. Vo, P. D. Ptacek, J. Cheung, Y. H. Fu and L. J. Ptacek.
50/8:45 Neuropathy target esterase gene mutations cause motor neuron disease. S. Rainier, M. Bui, L. Ming, E. Plein, D. Thomas, D. Tokarz, C. Delaney, J. W. Albers, R. J. Richardson and J. K. Fink.
51/9:00 A high-throughput metabolomics-guided screening of ENU mice for mouse models of human metabolic diseases: identification of mouse model of LCHAD deficiency. J. Y. Wu, H. J. Kao, C. C. Huang, R. Stevens, D. Millingon and Y. T. Chen.
52/9:15 PGC-1-alpha transcription interference produces deranged thermoregulation in Huntington disease transgenic mice. P. Weydt, V. V. Pineda, S. Luquet, R. T. Libby and A. R. La Spada.
53/9:30 Spectrin mutations cause spinocerebellar ataxia type 5. L. P. W. Ranum, K. A. Dick, M. R. Weatherspoon, J. C. Dalton, G. Stevanin, A. Dürr, C. Zuehlke, K. Buerk, A. Brice, H. B. Clark, L. J. Schut, J. W. Day and Y. Ikeda.
54/9:45 Targeted deletion of the Sca8 ataxia locus in mice causes abnormal gait, progressive loss of motor coordination and Purkinje cell dendritic deficits. Y. He, K. A. Benzow, H. B. Clark and M. D. Koob.
55/10:00 Molecular and clinical aspects of myotonic dystrophy: seven years' experience of direct molecular testing on 2650 Italian DM cases, risk prediction for clinical phenotype on the basis of molecular data. L. Baghernajad Salehi, E. Bonifazi, M. Gennarelli, A. Botta, L. Vallo, R. Iraci, A. Nardone, A. Pietropolli, E. Di Stasio and G. Novelli.
56/10:15 Error-prone repair of slipped CAG/CTG repeats by human neuron proteins leads to trinucleotide expansions. C. E. Pearson, G. B. Panigrahi, R. Lau, M. Blondin and S. E. Montgomery.
