Genetic neurological disorder\Ataxias
SCIE.05.44
AN UNEXPECTED ROLE OF THE NIJMEGEN BREAKAGE SYNDROME PROTEIN (NBS1) AT THE PRIMARY CILIUM AND IN HEDGEHOG SIGNALING IS IMPORTANT FOR CEREBELLAR DEVELOPMENT AND MEDULLOBLASTOMA

Fabretti F. , Nicolis Di Robilant V. , La Monica V. , Augusto M.C. , Battaglini D. , Polonara F. , Di Giulio S. , Belardinilli F. , Moretti M. , Corsi A. , De Panfilis S. , Peruzzi G. , De Smaele E. , Petroni M. , Giannini G. *

Roma
SCIE.11.46
CORTICOSPINAL TRACT MICROSTRUCTURAL INTEGRITY AND ITS CORRELATION WITH CLINICAL AND MOLECULAR BIOMARKERS: A PROFILOMETRY MRI STUDY TO IDENTIFY IN-VIVO BIOMARKERS OF DISEASE SEVERITY IN ARSACS

Cocozza S. *

Naples
SCIE.16.43
PRECLINICAL EFFICACY STUDY OF PERK SIGNALING INHIBITORS AND TUDCA IN MARINESCO-SJÖGREN SYNDROME

Lavigna G. , Pasini C. , Grasso A. , Masone A. , Mignogna L. , Grande V. , Restelli E. , Fracasso C. , Lucchetti J. , Gobbi M. , Chiesa R. *

Milano
SCIE.16.42
CELL-PENETRATING SIL1 PROTEIN REPLACEMENT THERAPY FOR MARINESCO-SJOGREN SYNDROME

Amodei L. * [1] , Ruggieri A.G. [1] , Potenza F. [1] , Dufrusine B. [2] , Sallese M. [1]

Chieti [1] , Teramo [2]
SCIE.11.47
DANIO RERIO AS A MODEL TO REVEAL NEW INSIGHT OF RETINAL DEFECTS IN ARSACS

Galatolo D. , Licitra R. , Damiani D. , Ogi A. , Marchese M. , Mero S. , Santorelli F.M. , Naef V. *

Pisa
SCIE.05.41
REGULATION OF ALTERNATIVE SPLICING OF CA2+ CHANNELS BY CRISPR/CAS9-MEDIATED GENOME EDITING AS AN ALL-PURPOSE GENETIC THERAPY FOR LOSS-OF-FUNCTION CACNA1A MUTATIONS

Jaudon F. * [1] , Guida F. [2] , Musante I. [2] , Muzzi L. [2] , Ruggeri R. [1] , Scudieri P. [2] , Zara F. [2] , Cingolani L. [1]

Trieste [1] , Genoa [2]
SCIE.11.49
PPAR GAMMA AGONIST PIOGLITAZONE RESTORES MITOCHONDRIAL QUALITY CONTROL IN FIBROBLASTS OF PITRM1 DEFICIENT PATIENTS

Di Donfrancesco A. [1] , Berlingieri C. [1] , Giacomello M. [2] , Bindoff L. [3] , Segel R. [4] , Rembaum P. [4] , Santorelli F. [5] , Viscomi C. [2] , Zeviani M. [2] , Ghezzi D. [1] , Brunetti D. * [1]

Milan [1] , Padua [2] , Bergen [3] , Jerusalem [4] , Pisa [5]
SCIE.11.50
EXPLAINABLE ARTIFICIAL INTELLIGENCE AND FRACTAL DIMENSION OF BRAIN MRI IN FRIEDREICH ATAXIA AND SCAS

Marzi C. [1] , Lai M. [2] , Scheda R. [2] , Orsolini S. [2] , Mascalchi M. [1] , Harding I. [3] , Diciotti S. * [2]

Florence [1] , Cesena [2] , Melbourne [3]
SCIE.11.45
THE ALTERATION OF MITOCHONDRIAL ENERGETIC METABOLISM CONTRIBUTES TO THE PATHOGENESIS OF POSTERIOR COLUMN ATAXIA AND RETINITIS PIGMENTOSA

Bertino F. [1] , Grasso E. [1] , Kopecka J. [1] , Hentschel A. [2] , Bellini S. [1] , Barutta F. [1] , Bonora M. [3] , Pinton P. [3] , Roos A. [4] , Riganti C. [1] , Tolosano E. [1] , Chiabrando D. * [1]

Torino [1] , Dortmund [2] , Ferrara [3] , Essen [4]
SCIE.11.48
DEVELOPMENT OF AN ALLELE-SPECIFIC EPIGENETIC SILENCING PLATFORM FOR THE TREATMENT OF SCA2

Coglot A. * , Cappelluti M. , Migliara A. , Valsoni S. , Merelli I. , Lombardo A.

Milan (MI)