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Friday, October 14
4:15
PM
–6:15
PM
Concurrent Platform Session C (51-60)
SESSION 58 – Neurogenetics III: Alzheimer, Parkinson
and Neurodegenerative Diseases
Room 710A, Level 7, Convention Center
Moderators:
Gert-Jan van Ommen, Leiden Univ. Med.
Ctr., Netherlands; Harry Orr, Univ. of Minnesota, USA
219
/4:15
Autophagy failure in Alzheimer’s disease.
R. Nixon, J. H. Lee, D. S. Yang, S. Lee.
220
/4:30
Resequencing of the complement gene
pathway to identify rare variants that affect risk of
Alzheimer’s disease.
M. K. Lupton, S. Newhouse, M.
Weale, S. Lovestone, J. F. Powell.
221
/4:45
Identification of rare variants for late-
onset Alzheimer disease in a family-based
genome-wide association study.
G. Jun, J. Buros, K.
L. Lunetta, T. M. Foroud, R. Mayeux, L. A. Farrer.
222
/5:00
Alzheimer’s risk variants in the
CLU
gene
modify the use of alternative transcription start
sites.
M. Szymanski, R. Wang, S. Bassett, D.
Avramopoulos.
223
/5:15
Investigating Alzheimer’s disease using
knock-in mouse models.
Q. Guo, N. Justice, H.
Zheng.
224
/5:30
Genome-wide association of progressive
supranuclear palsy (PSP) and the role of
MAPT
locus in PSP and Parkinson’s disease.
N. Melhem,
G. Hoglinger, D. Dickson, P. Sleiman, A. Singleton, B.
Devlin, U. Muller, G. Schellenberg, PSP Genetics
Study Group, International Parkinson Disease
Genomics Consortium.
225
/5:45
A common variant in myosin-18B
contributes to mathematical performance in
children with dyslexia and intraparietal sulcus
variability in adults.
K. U. Ludwig, P. Sämann, M.
Alexander, J. Becker, J. Bruder, K. Moll, S. Streiftau, D.
Spieler, M. Czisch, S. J. Docherty, O. S. P. Davis, R.
Plomin, M. M. Nöthen, K. Landerl, B. Müller-Myhsok,
P. Hoffmann, J. Schumacher, G. Schulte-Körne, D.
Czamara.
226
/6:00
Genome-wide consequences of
compromised RNA surveillance and its relevance
for normal brain function.
L. S. Nguyen, L. Jolly, C.
Shoubridge, W. K. Chan, L. Huang, F. Laumonnier, M.
Raynaud, A. Hackett, M. Filed, J. Rodriguez, A. K.
Srivastava, Y. Lee, A. M. Addington, J. L. Rapoport, S.
Suren, C. Hahn, J. Gamble, M. F. Wilkinson, M. A.
Corbett, J. Gecz.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
Friday, October 14
4:15
PM
–6:15
PM
Concurrent Platform Session C (51-60
SESSION 59 – Clinical Genetics II: Neurodevelopmen
Disorders
Room 710B, Level 7, Convention Center
Moderators:
Kym Boycott, Children’s Hosp. of Ontar
Canada; Jill Clayton-Smith, Univ. of Manchester, U.
227
/4:15
New findings in phenotype-genotype
correlations in holoprosencephaly: About a large
European series of 645 probands.
S. Odent, C.
Dubourg, L. Pasquier, C. Bendavid, P. Loget, N.
Garcelon, B. Campillon-Gimenez, S. Jaillard, C. Que
L. Rochard, V. Dupe, V. David, S. Mercier.
228
/4:30
Rhombencephalosynapsis: An under-
recognized disorder associated with aqueductal
stenosis and a wide spectrum of severity.
D.
Doherty, G. E. Ishak, K. J. Millen, D. W. Shaw, W. B.
Dobyns.
229
/4:45
Phenotypes and genetics of
polymicrogyria: Copy number variations and
evidence for a novel locus for bilateral perisylvia
polymicrogyria narrowed to 2p16.1-p16.3.
D.
Amrom, A. Poduri, B. Dan, N. Deconinck, C.
Christophe, B. Pichon, F. Dubeau, D. Tampieri, G.
Kuchukhidze, W. Dobyns, C. Walsh, F. Andermann,
Andermann.
230
/5:00
Posterior fossa anomalies diagnosed wi
fetal MRI: Associated anomalies and
neurodevelopmental outcomes.
K. J. Patek, B. M.
Kline-Fath, V. V. Pilipenko, C. G. Spaeth, T. M.
Crombleholme, R. J. Hopkin.
231
/5:15
Distal arthrogryposis type 5D: A new
autosomal recessive syndrome.
M. J. McMillin, A.
Beck, J. Pinner, S. G. Mehta, D. K. Grange, G. R.
Gogola, J. T. Hecht, D. J. Harris, S. Jagadeesh, L.
Garavelli, D. L. Earl, M. J. Bamshad.
232
/5:30
A frameshift mutation in
MYH3
, encodin
embryonic myosin heavy chain, causes clubfoot.
E. Beck, K. M. Bofferding, H. I. Gildersleeve, M. J.
McMillin, J. C. Carey, M. J. Bamshad.
233
/5:45
VAX1
mutation associated with
microphthalmia, corpus callosum agenesis and
orofacial clefting: The first description of a
VAX1
phenotype in humans.
A. M. Slavotinek, R. Chao,
Yahyavi, H. Abouzeid, T. Bardakjian, A. Schneider, E.
H. Sherr, M. Youseff, G. Lemke, D. F. Schorderet.
234
/6:00
Expanding the clinical spectrum
associated with defects in
CNTNAP2
and
NRXN1
C. Zweier, A. Gregor, B. Albrecht, I. Bader, E. K.
Bijlsma, A. B. Ekici, H. Engels, K. Hackmann, D. Hor
J. Hoyer, J. Klapecki, J. Kohlhase, I. Maystadt, S.
Nagl, E. Prott, S. Tinschert, R. Ullmann, E. Wohllebe
G. Woods, A. Rauch, A. Reis.