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490W Patterns of shared polymorphism between
humans and chimpanzees.
S. Pfeifer, E. Leffler, A.
Fledel-Alon, A. Auton, R. Bowden, O. Venn, S. Melton, Z.
Iqbal, I. Turner, L. Segurel, R. Hernandez, J. Maller, J.
Broxholme, R. Bontrop, G. Lunter, P. Humburg, S. Myers,
P. Donnelly, M. Przeworski, G. McVean.
491W Evolutionary dynamics of co-segregating gene
clusters associated with complex diseases.
C. Preuss,
M. Stoll.
492W Rate and molecular spectrum of spontaneous
mutations in the human genome inferred from rare
variants found by sequencing 202 drug target genes in
14,000 individuals.
V. M. Schaibley, M. Zawistowski, D.
Wegmann, D. Kessner, M. G. Ehm, J. C. Whittaker, S. L.
Chissoe, V. E. Mooser, M. R. Nelson, G. Abecasis, J.
Novembre, S. Zöllner, J. Z. Li.
493W
Withdrawn
494W Evolutionary genetics evidence for strong
differences in the biological relevance of host
microbial sensors.
E. Vasseur, S. Pajon, J. Manry, B.
Crouau-Roy, L. Quintana-Murci.
495W A SNP in EDAR is associated with a number of
phenotypes of epidermal appendages: A population
study in China.
S. Wang, Y. G. Kamberov, J. Tan, P.
Gerbault, L. Tan, Y. Yang, S. Li, B. A. Morgan, D. E.
Lieberman, M. G. Thomas, C. J. Tabin, L. Jin, P. C. Sabeti.
Psychiatric Genetics, Neurogenetics
and Neurodegeneration
496W Parental age and assisted reproductive
technology in autism spectrum disorders, attention
deficit hyperactivity disorder, and Tourette syndrome in
a Japanese population.
T. Shimada, H. Kuwabara, Y.
Kano, K. Kasai, N. Kato, T. Sasaki.
497W Genetic and clinical analysis of spinocerebellar
ataxia type 8 repeat expansion in a Sicilian pedigree.
F.
Cavalcanti, P. Tarantino, M. Sframeli, F. Annesi, E. V. De
Marco, M. Caracciolo, M. Gagliardi, A. Gambardella, C.
Rodolico, A. Quattrone, G. Annesi.
498W GRIK2, IL1B, NEDD8 and NEDD9 genes may act
as modifiers of the Machado-Joseph disease/ SCA 3
phenotype.
V. E. Emmel, K. C. Donis, T. C. Gheno, J. A.
M. Saute, L. Vedolin, L. B. Jardim, M. L. Sraiva-Pereira.
499W Residual age of disease onset variance in
spinocerebllar ataxias in a Cuba and U.S. cohort.
K. P.
Figueroa, H. Coon, C. M. Gomez, H. L. Paulson, S. L.
Perlman, N. Santos, J. D. Schmahmann, L. Velázquez
Pérez, G. R. Wilmot, T. A. Zesiewicz, S. H. Subramony, T.
Ashizawa, S. M. Pulst, Clinical Research Consortium for
Spinocerebellar Ataxias.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
500W A new case of ataxia type 17 in a Mexican
female.
D. Garcia-Cruz, C. M. Moran-Moguel, J. Sanch
Corona, G. Castañeda-Cisneros, N. O. Davalos-Rodrigu
I. P. Davalos-Rodriguez, J. A. Alcaraz-Ochoa, D. M.
Sanchez-Garcia, M. H. Orozco-Gutierrez, N. Y. Nuñez-
Reveles, J. Corral, H. San Nicolas, L. de Jorge, V. Volpi
501W Screening
ANO10
mutations in a Japanese
cohort of cerebellar ataxia.
K. Ishikawa, M. Furuki, H.
Matsuo, T. Yamashita, H. Mizusawa.
502W A genome-wide expression profiling to unrave
effect of missense mutations in SCA28 patients.
C.
Mancini, P. Roncaglia, N. Lo Buono, A. Brussino, C.
Cagnoli, F. Maltecca, H. Krmac, T. Limongi, G. Stevanin
S. Forlani, G. Casari, A. Funaro, A. Durr, N. Migone, S.
Gustincich, A. Brusco.
503W Generation and characterization of transgenic
rat models of spinocerebellar ataxia type 17.
H.
Nguyen, A. Kelp, O. Riess, P. Bauer.
504W A novel mouse model of spinocerebellar ataxi
type 6 develops distinct Purkinje cell degeneration.
Unno, H. Mizusawa, K. Watase.
505W Genotype-phenotype correlations in spastic
paraplegia type 7.
K. L. I. van Gassen, C. van der
Heijden, E. J. Kamsteeg, H. Scheffer, B. P. van de
Warrenburg.
506W A novel ataxin-7 variant associated with slurre
speech, clumsiness, learning difficulties, pes cavus
and ataxia.
J. Warner, J. Pagan, D. FitzPatrick, M.
Porteous, A. Diamond, P. Kennedy, D. Wilcox.
507W Non-AUG initiated homopolymeric proteins in
microsatellite expansion disorders.
T. Zu, N. Doty, B.
Gibbens, M. Swanson, L. Ranum.
508W A SNAP25 promoter variant is associated with
schizophrenia and a disturbed SNAP25b/SNAP25a
expression ratio in patients.
A. Dumaine, A. Meary, P.
Llorca, C. Lancon, F. Schurhoff, A. Szoke, M. Leboyer,
Jamain.
509W Evaluating the NLGN3 gene alternative splicin
pattern and its potential role in autism.
Z. Talebizade
R. Aldenderfer.
510W GJB2 (Connexin26) is associated with age-
related hearing impairment in humans and mice.
C.-
Wu, J.-H. Hwang, Y.-C. Lu, Y.-H. Lin, P.-J. Chen, W.-S.
Yang, M.-F. Chen, I.-S. Yu, S.-W. Lin, H.-C. Lin, C.-C. K
Q. Chang, X. Lin, Y.-L. Lee, T.-C. Liu, C.-J. Hsu.
511W Microarray technology and GhostMiner softw
in modeling genetic risk factors of neurometabolic
disturbance in patients with Parkinson’s disease.
M.
Bodzioch, K. Lapicka-Bodzioch, J. Slawek, A. Roszman
M. Rudzinska, A. Szczudlik, A. Slowik.