XL Congresso Società Italiana di Neurologia PADOVA 21-25 ...
XL Congresso Società Italiana di Neurologia PADOVA 21-25 ...
XL Congresso Società Italiana di Neurologia PADOVA 21-25 ...
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COMUNICAZIONI ORALI: NEUROGENETICA 2<br />
ore 11.30 - 13.30<br />
Moderatori<br />
M.T. DOTTI (Siena) - F. TARONI (Milano)<br />
11.30 ANIMAL MODELS OF OXPHOS DISEASES<br />
C. VISCOMI, V. TIRANTI, I. DIMEO, E. BOTTANI, R. CERUTTI, P. ARZUFFI,<br />
M. ZEVIANI (Milano)<br />
11.45 MITOCHONDRIAL DYSFUNCTION IN EXPERIMENTAL CHARCOT-<br />
MARIE-TOOTH TYPE 1A (CMT1A) NEUROPATHY<br />
F. FIORESE, S. RAVERA, M. PASSALACQUA, M. NITTI, A. SCHENONE, L. NOBBIO<br />
(Genova)<br />
12.00 ALTERATION IN MTDNA CONTENT IN THE CEREBROSPINAL FLUID<br />
OF PATIENTS WITH HYPERTENSIVE HYDROCEPHALUS<br />
M. DAM, M. GUESCINI, A. DELLA PUPPA, V. STOCCHI, L. PIRON, L. AGNATI<br />
(Venezia)<br />
12.15 A NOVEL MUTATION IN THE THAP1 GENE EXPANDS THE PHENOTYPIC<br />
SPECTRUM OF DYT6 DYSTONIA<br />
M. BONETTI, C. BARZAGHI, F. BRANCATI, A. FERRARIS, M. PETRACCA, A. GIOVANNETTI,<br />
T. IALONGO, G. ZORZI, A. ALBANESE, N. NARDOCCI, B. DALLAPICCOLA,<br />
A. BENTIVOGLIO, B. GARAVAGLIA, E. VALENTE (Roma, Milano)<br />
12.30 A VARIANT OF THE PDXK GENE, ENCODING PIRIDOXAL KINASE, IS<br />
ASSOCIATED WITH PARKINSON’S DISEASE<br />
M. ZEVIANI, M. ELSTNER, C. MORRIS, K. HEIM, P. LICHTNER, A. BENDER,<br />
D. MEHTA, C. SCHULTE, G. HUDSON, S. GOLDWURM, A. GIOVANETTI, D. BURN,<br />
I. MCKEITH, R. PERRY, E. JAROS, H. WICHMANN, S. SCHREIBER, H. CAMPBELL,<br />
J. WILSON, A. WRIGHT, M. DUNLOP, G. PISTIS, D. TONIOLO, P. CHINNERY,<br />
T. GASSER, T. KLOPSTOCK, T. MEITINGER, H. PROKISCH, D. TURNBULL (Milano,<br />
Munich - D, Newcastle - UK, Tübingen - D, Kiel - D, E<strong>di</strong>nburgh - UK)<br />
12.45 SPATACSIN MUTATIONS IN AUTOSOMAL RECESSIVE JUVENILE ALS<br />
A. ORLACCHIO, C. BABALINI, A. BORRECA, C. PATRONO, V. MOSCHELLA,<br />
N. MERCURI, S. YILMAZ, R. MUNHOZ, E. ROGAEVA, P. ST GEORGE-HYSLOP,<br />
G. BERNARDI, T. KAWARAI (Roma, Istanbul - TR, Curitiba - BR, Toronto - CND,<br />
Himeji City - JP)<br />
13.00 THE IONOTROPIC GLUTAMATE RECEPTOR GENES (GRIA3-GRIA1) IN<br />
A ITALIAN POPULATION OF MIGRAINEURS<br />
D. FORMICOLA, O. FARINA, D. DIODATO, S. SAMPAOLO, F. GIANFRANCESCO,<br />
T. ESPOSITO, G. DI IORIO (Napoli)<br />
13.30 - 14.30 Pausa pranzo<br />
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