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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571. FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: OCCURRENCE<br />
OF ATYPICAL ONSET IN A SERIES OF 123 CASES<br />
E. PASTORELLO, C. BORSATO, M. CAO, G. CAMPORESE, M. FANIN, G. TOMELLERI,<br />
G. GALLUZZI, R. TUPLER, C. ANGELINI, C. TREVISAN (Padova, Verona, Roma,<br />
Modena)<br />
572. SEVERE CHILDHOOD MYOPATHY WITH RIGID SPINE, RESPIRATORY<br />
INSUFFICIENCY AND PERIPHERAL NEUROPATHY DUE TO BAG3 MUTATION<br />
A. PILOTTO, D. SELCEN, F. MUNTONI, A. ENGEL, C. ANGELINI, E. PEGORARO<br />
(Padova, Dubowitz - NY, London - UK)<br />
573. THE FIRST ITALIAN FAMILY WITH DISTAL MYOPATHY ASSOCIATED<br />
WITH A NOVEL TTN GENE MUTATION<br />
M. A. CARLUCCIO, A. MALANDRINI, M. POLLAZON, M. MONDELLI, A. RENIERI,<br />
A. FEDERICO, B. UDD, M. DOTTI (Siena, Tampere - FIN)<br />
574. PHENOTYPIC VARIABILITY IN MYOTONIC DYSTROPHY TYPE 2 (DM2)<br />
A. ZANOLINI, V. SANSONE, M. PANZERI, B. FOSSATI, G. MEOLA (San Donato<br />
Milanese - MI)<br />
575. DYSFERLINOPATHIES: NATURAL HISTORY AND ROLE OF PHYSICAL<br />
ACTIVITY AS AN ADVERSE FACTOR<br />
L. BORTOLUSSI, C. BORSATO, A. PALMIERI, M. FANIN, C. ANGELINI (Padova)<br />
576. IDEBENONE THERAPY IN PATIENTS CARRYING THE MELAS MUTATION:A<br />
FOLLOW-UP STUDY<br />
C. LA MORGIA, R. LIGUORI, C. TONON, E. MALUCELLI, G. RIZZO, L. IOMMARINI,<br />
R. CARROCCIA, M. AMADORI, M. BELLAN, G. CANTALUPO, R. LODI, R. RINALDI,<br />
P. AVONI, M. VALENTINO, P. MONTAGNA, V. CARELLI (Bologna, Parma)<br />
577. PROMINENT GASTROINTESTINAL DYSMOTILITY IN MITOCHONDRIAL<br />
ENCEPHALOMYOPATHIES<br />
C. LA MORGIA, R. DE GIORGIO, V. STANGHELLINI, G. CENACCHI, R. RINALDI,<br />
L. BADIAL DE GIORGI, L. PIRONI, R. COGLIANDRO, L. IOMMARINI, P. MONTAGNA,<br />
M.L. VALENTINO, R. LIGUORI, V. CARELLI (Bologna)<br />
578. LATE-ONSET GLYCOGENOSIS TYPE 2 : DOES ERT MODIFY NATURAL<br />
HISTORY OF THE DISEASE?<br />
C. SEMPLICINI, P. TONIN, M. FILOSTO, E. PEGORARO, C. ANGELINI (Padova, Verona, Brescia)<br />
579. INCREASED AUTOPHAGY-APOPTOSIS IN DIFFERENTIATED MYOTONIC<br />
DYSTROPHY TYPE 1 MUSCLE CELLS<br />
E. LORO, G. QUERIN, F. RINALDI, E. MASIERO, V. ROMEO, G. SORARÙ, C. ANGELINI,<br />
M. SANDRI, A. BOTTA, L. VERGANI (Padova, Roma)<br />
580. A NEW FUNCTIONAL SCALE FOR MYOTONIC DYSTROPHY TYPE 1<br />
S. CONTARDI, F. PIZZA, F. FALZONE, R. D’ALESSANDRO, P. AVONI, V. DI STASI,<br />
P. MONTAGNA, R. LIGUORI (Bologna)<br />
581. COGNITIVE AND NEURORADIOLOGICAL PROFILE IN LGMD-2I<br />
A. PALMIERI, R. MANARA, L. BELLO, G. MENTO, L. LAZZARINI, C. BORSATO,<br />
M. ERMANI, E. PEGORARO, C. ANGELINI (Padova)<br />
582. DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECTS IN A<br />
PATIENT WITH PARTIAL REDUCTION OF MEROSIN DUE TO LAMA2<br />
GENE ALTERATIONS<br />
R. PIRAS, N. CARBONI, G. MARROSU, M. MAIOLI, G. COGHE, G. FENU, J. FRAU,<br />
L. LOREFICE, A. MATTEDDU, E. SOLLA, E. COCCO, M. MARROSU (Cagliari)<br />
583. WALKING AND BALANCE IN FACIOSCAPULOHUMERAL MUSCULAR<br />
DYSTROPHY (FSHD): CLINICAL AND INSTRUMENTAL ASSESSMENT<br />
I. APRILE, A. GILARDI, C. BORDIERI, G. VERGILI, M. IOSA, L. PADUA, E. RICCI<br />
(Roma)<br />
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