SESSIONE: Poster session 1
13/03/2023 17:30 - 18:45

Riva del Garda, Centro Congressi SALA: Palavela

Poster session 1

SCIE.05.3
NATURAL HISTORY OF BECKER MUSCULAR DYSTROPHY: TOWARD TRIAL READINESS

Gorgoglione Domenico * [1] , Sabbatini Daniele [1] , D'AMICO ADELE [2] , BRUNO CLAUDIO [3] , Moroni Isabella [4] , Previtali Stefano [4] , Mercuri Eugenio Maria [2] , D'Angelo Maria Grazia [4] , BATTINI ROBERTA [5] , Vincenzo Nigro Vincenzo [6] , SANSONE VALERIA [4] , BERARDINELLI ANGELA LUCIA [7] , Messina Sonia [8] , Magri Francesca [4] , Ferlini Alessandra [9] , Pini Antonella [10] , Mongini Tiziana [11] , Servidei Serenella [2] , Bello Luca [1] , PEGORARO ELENA [1]

Padova [1] , Roma [2] , Genova [3] , Milano [4] , Pisa [5] , Napoli [6] , Pavia [7] , Messina [8] , Ferrara [9] , Bologna [10] , Torino [11]
SCIE.05.5
DISTROFIA MUSCOLARE DI DUCHENNE: CORRELAZIONE GENOTIPO-FENOTIPO

Leone Daniela * [1] , BERARDINELLI ANGELA LUCIA [2] , PASSAMANO LUIGIA [3] , MASSON RICCARDO [4] , D'AMICO ADELE [1] , COMI GIACOMO PIETRO [4] , Pini Antonella [5] , BATTINI ROBERTA [6] , SANSONE VALERIA [4] , MESSINA SONIA [7] , BRUNO CLAUDIO [8] , PEGORARO ELENA [9] , GANDOSSINI SANDRA [10] , RICCI FEDERICA [11] , PREVITALI STEFANO CARLO [12] , MERCURI EUGENIO [1]

Roma [1] , Pavia [2] , Napoli [3] , Milano [4] , Bologna [5] , Calambrone (PI) [6] , Messina [7] , Genova [8] , Padova [9] , LECCO [10] , Torino [11] , MILANO [12]
SCIE.05.6
CHARACTERIZING PHENOTHYPES IN NON AMBULANT DUCHENNE MUSCULAR DYSTROPHY

Leone Daniela * [1] , Palermo Concetta [1] , Berti Beatrice [1] , Dosi Claudia [2] , Catteruccia Michela [1] , Pedemonte Marina [3] , Giannotta Melania [4] , Bello Luca [5] , PASSAMANO LUIGIA [6] , RICCI FEDERICA [7] , Zanolini Alice [8] , Magri Francesca [8] , Diella Eleonora [9] , Russo Massimo [10] , Siciliano Gabriele [11] , Frosini Silvia [11] , Mercuri Eugenio [1] , Pane Marika [1]

Roma [1] , Fondazione IRCSS Istituto neurologico Carlo Besta [2] , Genova [3] , Bologna [4] , Padova [5] , Napoli [6] , Torino [7] , Milano [8] , Lecco [9] , Messina [10] , Pisa [11]
SCIE.05.7
CHARACTERIZATION OF THE PHENOTYPIC DIVERSITY IN DUPEX2 DUCHENNE MUSCULAR DYSTROPHY AND IDENTIFICATION OF PREDICTIVE/PROGNOSTIC MARKERS

ZAMBON ALBERTO [1] , Ferlini Alessandra [2] , ALBAMONTE EMILIO [1] , Astrea Guja [3] , Comi Giacomo [1] , D'AMICO ADELE [4] , D'ANGELO MARIA GRAZIA [5] , Fiorillo Chiara [6] , MASSON RICCARDO [1] , MESSINA SONIA [7] , Pane Marika [4] , PASSAMANO LUIGIA [8] , PEGORARO ELENA [9] , Pini Antonella [10] , RICCI FEDERICA [11] , Previtali Stefano * [1]

MILANO [1] , FERRARA [2] , PISA [3] , ROMA [4] , BOSISIO PARINI [5] , GENOVA [6] , MESSINA [7] , NAPOLI [8] , PADOVA [9] , BOLOGNA [10] , TORINO [11]
SCIE.05.10
A MITOCHONDRIAL THERAPY FOR MUSCULAR DYSTROPHIES

Castagnaro Silvia * [1] , Bonaldo Paolo [1] , Dorchies Olivier M. [2] , Cohen Michael [3] , Bernardi Paolo [1]

Padova [1] , Geneva [2] , Portland (OR) [3]
SCIE.05.16
ROLE OF STORE-OPERATED CA2+ ENTRY (SOCE) IN TUBULAR AGGREGATE MYOPATHY.

Protasi Feliciano * [1] , Sorrentino Vincenzo [2]

Chieti [1] , Siena [2]
SCIE.05.24
SCIE.05.65
MECHANISMS OF SYNAPTIC DYSFUNCTION IN THE ANGELMAN SYNDROME

Baronchelli Federica * [1] , Biagioni Martina [2] , Di Nunzio Martina [2] , Erreni Marco [2] , Folci Alessandra [1] , Fossati Matteo [1]

Milan [1] , Rozzano (MI) [2]
SCIE.05.66
THE TETRASPANIN TSPAN5 REGULATES AMPARS EXOCYTOSIS BY INTERACTING WITH THE AP-4 COMPLEX

Moretto Edoardo , Passafaro Maria *

CNR, Institute of Neuroscience, Milan 20129, Italy
SCIE.05.86
SCIE.05.97
SCIE.05.124
A NOVEL NEURODEVELOPMENT SYNDROME CAUSED BY RECESSIVE VARIANTS IN THE FSD1L GENE

Serpieri Valentina [1] , Orsi Alessia * [1] , Cavan Silvia [1] , Mazzotta Concetta [1] , Celli Ludovica [2] , De Mori Roberta [2] , Biagini Tommaso [3] , Romani Marta [2] , Garbelli Anna [1] , Smal Noor [4] , Mazza Tommaso [5] , Sabbioneda Simone [1] , Bione Silvia [1] , Condoluci Claudia [2] , Weckhuysen Sarah [4] , Valente Enza Maria [1]

Pavia [1] , Roma [2] , Foggia [3] , Anversa [4] , San Giovanni Rotondo, Foggia [5]
SCIE.05.132
SCIE.05.138
SCIE.05.161
SCIE.05.164
SCIE.05.171
SCIE.05.175
NOVEL THERAPEUTIC APPROACHES FOR AEC SYNDROME

Di Girolamo Daniela * [1] , D'Auria Ludovica [1] , Urciuoli Gloria [1] , Antonini Dario [2] , Missero Caterina [1]

Napoli [1] , napoli [2]
SCIE.05.178
ANTIBODY GENE TRANSFER TREATMENT IMPROVES EPIDERMAL PATHOLOGY IN A MOUSE MODEL OF KID SYNDROME

Peres Chiara * [1] , Sellitto Caterina [2] , Nardin Chiara [1] , Putti Sabrina [1] , Orsini Tiziana [1] , Di Pietro Chiara [1] , Marazziti Daniela [1] , Vitiello Adriana [3] , Calistri Arianna [3] , Rigamonti Mara [4] , Scavizzi Ferdinando [1] , Raspa Marcello [1] , Zonta Francesco [5] , Yang Guang [5] , White Thomas [2] , Mammano Fabio [1]

Monterotondo, Rome [1] , Stony Brook, NY [2] , Padova [3] , Buguggiate, Varese [4] , Shanghai [5]
SCIE.05.190