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 ...
Create successful ePaper yourself
Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.
COMUNICAZIONI ORALI: NEUROGENETICA 3<br />
ore 11.30 - 13.30<br />
Moderatori<br />
G. DI IORIO (Napoli) - S. MONACO (Verona)<br />
11.30 REPLICATION PHASE OF A WHOLE-GENOME ASSOCIATION STUDY IN<br />
PROGRESSIVE FORMS OF MULTIPLE SCLEROSIS<br />
F. MARTINELLI BONESCHI, F. ESPOSITO, P. BRAMBILLA, J. WOJCIK, A. GHEZZI,<br />
R. CAPRA, M. RODEGHER, V. MARTINELLI, B. COLOMBO, L. MOIOLA, E. LINDSTROM,<br />
T. KILPATRICK, B. TAYLOR, J. HILLERT, J. RUBIO, H. ABDERRAHIM, G. COMI (Milano,<br />
Genova, Gallarate - VA, Brescia, Milano, Hud<strong>di</strong>nge - S, Melbourne - AUS)<br />
11.45 SDHAF1, A LYR COMPLEX-II SPECIFIC ASSEMBLY FACTOR, IS MUTATED<br />
IN SDH-DEFECTIVE INFANTILE LEUKOENCEPHALOPATHY<br />
M. ZEVIANI, D. GHEZZI, P. GOFFRINI, G. UZIEL, R. HORVATH, P. D'ADAMO,<br />
F. INVERNIZZI (Milano, Parma, Newcastle - UK, Trieste)<br />
12.00 PECULIAR DISTRIBUTION OF NOTCH3 MUTATIONS IN A LARGE<br />
COHORT OF ITALIAN CADASIL PATIENTS: CONFIRMATION OF THE<br />
ORIGINAL REPORT<br />
S. BIANCHI, C. D'ERAMO, E. ZICARI, F. PESCINI, L. PANTONI, D. INZITARI, A. FEDERICO,<br />
M. DOTTI (Siena, Firenze)<br />
12.15 AN INTRONIC DELETION IN THE PUTATIVE BRANCH POINT SEQUENCE<br />
OF INTRON 3 OF NOTCH3 GENE AS THE CAUSE OF ABNORMAL SPLICING<br />
IN A CADASIL PATIENT<br />
S. BIANCHI, C. D'ERAMO, E. TARQUINI, A. BRUNI, M. DOTTI, A. FEDERICO (Siena,<br />
Lamezia Terme - CZ)<br />
12.30 GENETIC VARIATION OF CYP19 (AROMATASE) GENE INFLUENCES AGE<br />
AT ONSET OF ALZHEIMER'S DISEASE IN WOMEN<br />
G. GAMBINA, R. CORBO, E. BROGGIO, L. ULIZZI, R. SCACCHI, G. MORETTO<br />
(Verona, Roma)<br />
12.45 FRONTOTEMPORAL DEMENTIA IN 2 FAMILIES WITH TARDBP A382T<br />
MUTATION<br />
A. CHIÒ, A. MONTUSCHI, E. MASTRO, G. RESTAGNO, A. CISTARO, C. MOGLIA,<br />
A. CALVO, A. TICCA, R. MUTANI, M. BRUNETTI, I. OSSOLA, A. CANOSA, M. BALMA,<br />
M. MARROSU, G. BORGHERO (Torino, Nuoro, Cagliari)<br />
13.00 APP A713T MUTATION IN LATE ONSET ALZHEIMER'S DISEASE WITH<br />
CEREBROVASCULAR LESIONS<br />
G. PUCCIO, L. BERNARDI, S. GERACITANO, R. COLAO, M. GALLO, M. ANFOSSI,<br />
F. FRANGIPANE, S. CURCIO, M. MIRABELLI, C. TOMAINO, F. VASSO, N. SMIRNE,<br />
R. MALETTA, A. BRUNI (Lamezia Terme - CZ)<br />
13.15 FRONTAL PHENOTYPE IN A PATIENT WITH ALZHEIMER’S DISEASE<br />
LINKED TO A NOVEL PSEN1 MUTATION<br />
M. GALLO, N. MARCELLO, S. CURCIO, R. COLAO, G. PUCCIO, L. BERNARDI,<br />
S. GERACITANO, M. ANFOSSI, F. FRANGIPANE, A. CLODOMIRO, M. MIRABELLI,<br />
F. VASSO, N. SMIRNE, G. MURACA, R. DI LORENZO, O. BUGIANI, G. GIACCONE,<br />
R. MALETTA, A. BRUNI (Lamezia Terme - CZ, Reggio Emilia, Milano)<br />
13.30 - 14.30 Pausa pranzo<br />
101<br />
24<br />
N<br />
O<br />
V<br />
E<br />
M<br />
B<br />
R<br />
E<br />
•<br />
G<br />
I<br />
A<br />
N<br />
B<br />
A<br />
T<br />
T<br />
I<br />
S<br />
T<br />
A<br />
D<br />
A<br />
M<br />
O<br />
N<br />
T<br />
E