Page 231 - ASHG 2012 Annual Meeting Program Guide

220
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
2638
T
C9ORF72
repeat expansions are a genetic cause
of parkinsonism.
S. Lesage, I. Le Ber, C. Condroyer,
E. Broussolle, A. Gabelle, S. Thobois, A. Durr, A. Brice,
Parkinson’s Disease Genetics Study Group.
2639
F Autosomal dominant family history is a highly
sensitive but not exclusive indicator of pathogenic
C9ORF72
expansions in frontotemporal dementia and
amyotrophic lateral sclerosis.
J. C. Fong, S. J. Sha, L.
Takada, K. J. Rankin, J. S. Yokoyama, N. J. Rutherford,
A. M. Karydas, B. K. Khan, M. C. Baker, M. DeJesus-
Hernandez, M. Pribadi, G. Coppola, D. H. Geschwind, R.
Rademakers, A. L. Boxer, B. L. Miller.
2640
W Walking down the molecular pathogenic road of
ARX polyalanine tract expansions: Where do they part?
C. Shoubridge, K. P. Y. Lee, T. Mattiske, J. Gécz.
2641
T Copy number variation of the neuronal glucose
transporter 3 and age of onset in Huntington’s disease.
A. Vittori, C. Breda, M. Repici, T. F. Outeiro, F. Giorgini, E.
J. Hollox, REGISTRY Investigators of EHDN.
2642
F Spinocerebellar ataxias in Brazil: Frequencies
and potential modifiers of phenotype.
R. M. Castilhos,
P. Schaeffer, T. C. Gheno, G. V. Furtado, K. C. Donis, O.
Barsottini, J. L. Pedroso, D. Z. Salarini, F. R. Vargas, M.
A. F. D. Lima, C. Godeiro, L. C. S. Silva, M. B. P. Toralles,
H. Y. Wanderley, P. F. V. Medeiros, S. Santos, H. van den
Linden, E. M. Ribeiro, E. T. Pereira, M. L. Saraiva-Pereira,
L. B. Jardim, Rede Neurogenética.
2643
W Comprehensive haplotype analysis of the
Huntington’s disease gene.
J. Lee, H. Li, J. C. Roach, N.
Goodman, L. Hood, J. A. Kaye, H. Zayed, I. H. Kratter, A.
C. Daub, S. Finkbeiner, R. H. Myers, M. E. MacDonald, J.
F. Gusella.
2644
T Brain-specific junctophilins: Function and role
in neurodegeneration.
X. Sun, M. Bhat, C. Zhang, W.
Zheng, R. L. Margolis, D. D. Rudnicki.
2645
F Repeat associated non-AUG translation in repeat
expansion disorders.
T. Zu, B. Gibbens, L. P. W. Ranum.
2646
W microRNA expression in Alzheimer’s disease:
An exploratory investigation.
L. M. Bekris, F. Lutz, T. J.
Montine, C. E. Yu, E. R. Peskind, J. B. Leverenz.
2647
T Behavioral abnormalities of knockout mice
of
Grm3
,
a candidate gene for schizophrenia
susceptibility.
Y. Fukumaki, R. Fujioka, T. Nii, A. Iwaki, A.
Shibata, I. Ito, K. Kitaichi, M. Nomura, S. Hattori, K. Takao,
T. Miyakawa.
2648
F Repeat expansion in
C9ORF72
in Alzheimer’s
disease.
E. Majounie, Y. Abramzon, A. E. Renton, R. Perry,
S. S. Bassett, O. Pletnikova, J. C. Troncoso, J. Hardy, A. B.
Singleton, B. J. Traynor.
2649
W Oxr1 is essential for protection against
oxidative stress-induced neurodegeneration.
P. L.
Oliver, M. J. Finelli, K. Liu, B. Edwards, E. Bitoun, E. B.
Becker, K. E. Davies.
2626
T Quality of life in Machado-Joseph disease/
spinocerebellar ataxia type 3 is related to depressive
and extracerebellar disease features.
J. A. Saute, R.
D’Ávila, R. M. Castilhos, T. L. Monte, A. F. S. Schuh, K.
C. Donis, G. N. Souza, A. D. Russo, T. C. Gheno, G. V.
Furtado, M. L. Saraiva-Pereira, C. R. M. Rieder, L. B.
Jardim.
2627
F A health non penetrant pedigree derives from a
late onset Parkinsonism founder index case with SCA2
and SCA8 expansions.
V. Volpini, H. San Nicolas, J.
Corral, L. De Jorge, B. Campos.
2628
W Impaired TFEB signaling accounts
for autophagy pathway dysfunction in the
neurodegenerative proteinopathy X-linked spinal and
bulbar muscular atrophy.
C. Cortes, Y. Batlevi, J. E.
Young, H. Frankowski, B. L. Sopher, G. A. Garden, A. R.
La Spada.
2629
T The histone demethylase
KDM5C
gene is a
direct target of the ARX homeobox transcription
factor.
L. Poeta, F. Fusco, D. Drongitis, C. Shoubridge,
G. Manganelli, A. Padula, S. Filosa, M. Courtney, P.
Collombat, M. B. Lioi, J. Gecz, M. V. Ursini, M. G. Miano.
2630
F 15q11.2 Microdeletion and
FMR1
premutation
in a family with intellectual disabilities and autism.
L.
Rodriguez-Revenga, I. Madrigal, M. Mila.
2631
W FRAXE molecular diagnosis in individuals
referred for FRAXA screening.
A. Javed, G. Ali, L.
Caicedo, I. Marques, R. Santos, P. Jorge.
2632
T An isogenic, epi-isoautosomal fibroblast
model to investigate
FMR1
premutation-associated
cellular dysfunction.
K. A. Koscielska, S. Roenspie, P. J.
Hagerman.
2633
F Formation of an R-loop at the
FMR1
5’
UTR:
Unraveling the extra thread of
FMR1
expression.
E. W.
Loomis, F. L. Chédin, P. J. Hagerman.
2634
W The role of AGG interruptions, alternative
splicing and bidirectional transcription in the stability
and function of the
FMR1
gene.
C. M. Yrigollen, H. Tang,
E. Loomis, G. Filippova, P. J. Hagerman, F. Tassone.
2635
T MutL is required to repair short slipped-DNAs
of trinucleotide repeats.
G. Panigrahi, M. Slean, J.
Simard, C. Pearson.
2636
F Regional alterations of transcriptome-wide
AGO:miRNA binding profiles in Huntington’s disease
patient brains.
R. L. Boudreau, P. Jiang, B. L. Gilmore, Y.
Xing, B. L. Davidson.
2637
W Large repeat expansions in the
C9ORF72
gene contribute to a spectrum of neurodegenerative
disorders including Alzheimer disease.
M. A. Kohli,
K. John-Williams, R. Rajbhandary, A. Naj, P. Whitehead,
K. Hamilton, R. M. Carney, C. Wright, E. Crocco, H. E.
Gwirtzman, R. Lang, G. Beecham, E. R. Martin, J. Gilbert,
M. Benatar, G. W. Small, D. Mash, G. Byrd, J. L. Haines,
M. A. Pericak-Vance, S. Züchner.