programma definitivo - Società italiana di neurologia
programma definitivo - Società italiana di neurologia
programma definitivo - Società italiana di neurologia
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789. A NEW CACNA1A GENE MUTATION PRESENTING ALTERNATIVELY<br />
WITH SCA6 AND EA2 PHENOTYPES<br />
L. PRADOTTO, M. MENCARELLI, A. MILESI, A. DI BLASIO, A. MAURO (Milano, Torino)<br />
790. SCA19/SCA22 MOLECULAR ANALYSIS IN PATIENTS WITH<br />
SPINOCEREBELLAR ATAXIA<br />
D. DI BELLA, E. SARTO, S. CALDARAZZO, C. CALLEGARINI, F. LOGULLO, C. GELLERA,<br />
F. TARONI (Milano, Ravenna, Ancona)<br />
791. MITOFUSIN-2 GENE SEQUENCE VARIATIONS AND GENOTYPE-<br />
PHENOTYPE CORRELATIONS<br />
G. PISCOSQUITO, I. MORONI, M. MILANI, P. SAVERI, S. BARATTA, F. TARONI, D.<br />
PAREYSON (Milano)<br />
792. TYPE B KUFS DUE TO A NOVEL CTSF MUTATION IN A LARGE ITALIAN<br />
PEDIGREE<br />
C. DAVASSI, F. MORO, M. MESCHINI, R. DI FABIO, L. PESTILLO, M. SERRAO, C. CASALI,<br />
A. SIMONATI, F. SANTORELLI, F. PIERELLI (Latina, Pisa, Fon<strong>di</strong> - LT, Verona, Pozzilli - IS)<br />
793. HOMOZYGOSITY FOR P.CYS183SER MUTATION IN NOTCH3 GENE MAY<br />
INFLUENCE THE SEVERITY OF CLINICAL PRESENTATION REPORT OF<br />
AN ITALIAN FAMILY<br />
S. BIANCHI, A. RUFA, C. VINCIGUERRA, G. GALLUS, M. DOTTI, A. FEDERICO<br />
(Siena)<br />
794. POLG1 GENE MUTATIONS IN PATIENTS WITH INTELLECTUAL DISABILITY<br />
C. SCUDERI, M. LO GIUDICE, E. BORGIONE, F. CASTELLO, M. SAVIO, F. DI BLASI,<br />
G. VITELLO, G. BARBARINO, R. PETTINATO, S. MUSUMECI (Troina - EN)<br />
795. DIGENIC MUTATION INHERITANCE OF INTEGRIN ALPHA 7 AND<br />
MYOSIN HEAVY CHAIN 7B GENES CAUSES CONGENITAL MYOPATHY<br />
WITH LEFT VENTRICULAR NON COMPACT CARDIOMYOPATHY<br />
D. FORMICOLA, T. ESPOSITO, F. NAPOLITANO, F. GIANFRANCESCO, G. LIMONGELLI,<br />
O. FARINA, D. DIODATO, F. CIPULLO, S. SAMPAOLO, G. DI IORIO (Napoli)<br />
796. PGRN A POSSIBLE MODIFIER GENE IN FTLD NEURODEGENERATIVE<br />
DISORDER<br />
E. VITALE, A. IULIANO, A. POLVERINO, A. POSTIGLIONE, P. SORRENTINO, G. MILAN,<br />
S. PAPPATÀ, G. SORRENTINO (Pozzuoli - NA, Napoli)<br />
797. A PILOT, RANDOMIZED, PLACEBO-CONTROLLED, TRIAL OF LITHIUM<br />
IN SPINOCEREBELLAR ATAXIA TYPE 2<br />
F. SACCÀ (Napoli)<br />
798. C19ORF12 MUTATIONS IN NEURODEGENERATION WITH BRAIN IRON<br />
ACCUMULATION (NBIA)<br />
G. ANNESI, P. TARANTINO, M. GAGLIARDI, G. LESCA, E. BROUSSOLLE, A. GAMBARDELLA,<br />
A. QUATTRONE (Mangone - CS, Lione - F, Germaneto - CZ)<br />
799. REVERSIBLE SUBACUTE ENCEPHALOPATHY INDUCED BY THERAPEUTIC<br />
DOSES OF VALPROATE IN AN ADULT WOMAN WITH THE NT. 8393 C>T<br />
MITOCHONDRIAL DNA MUTATION<br />
P. SORRENTINO, C. NESTI, L. RUGGIERO, A. ANTENORA, A. ROCA, M. QUARANTELLI,<br />
L. SANTORO, A. FILLA, F. SANTORELLI, G. DE MICHELE (Napoli, Pisa)<br />
800. RELATIONSHIP BETWEEN CLINICAL AND MRI FINDINGS IN PATIENTS<br />
WITH SPG4-RELATED SPASTIC PARAPLEGIA<br />
M.A. CARLUCCIO, M.L. STROMILLO, M. BATTAGLINI, A. TESSA, F. M. SANTORELLI,<br />
N. DE STEFANO, M.T. DOTTI (Siena, Pisa)<br />
801. OPTIC NEUROPATHY AND BILATERAL BRAINSTEM LESIONS ASSOCIATED<br />
WITH THE M.4171C>A/MT-ND1 MTDNA MUTATION<br />
C. LA MORGIA, L. CAPORALI, F. TONI, S. NASSETTI, D. BRUNETTO, A. PARMEGGIANI,<br />
A. TORRONI, V. CARELLI (Bologna, Pavia)<br />
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