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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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