D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Ramadza, Danijela Petkovic; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria

Feasibility and Efficacy of a Virtual Reality Social Prediction Training in Children and Young Adults with Congenital Cerebellar Malformations

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS

IF2.8

2024-05-033

OAAI

Neurorestorative effects of cerebellar transcranial direct current stimulation on social prediction of adolescents and young adults with congenital cerebellar malformations

NEUROIMAGE-CLINICAL

IF3.6

2024-01-013

OAAI

Randomized clinical trial on the effects of a computerized cognitive training for pediatric patients with acquired brain injury or congenital malformation

SCIENTIFIC REPORTS

IF3.9

2023-09-041

OAAI

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

非扩张性脊髓小脑共济失调的极端表型异质性

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-07-0116

OAAI

Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra

New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations

CEREBELLUM

IF2.4

2023-06-233

PRE

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

反复发作，创始人和拟态变异有助于Joubert综合征的遗传景观

JOURNAL OF MEDICAL GENETICS

IF3.7

2023-02-146

OAAI

Serpieri, Valentina; Mortarini, Giulia; Loucks, Hailey; Biagini, Tommaso; Micalizzi, Alessia; Palmieri, Ilaria; Dempsey, Jennifer C.; D'Abrusco, Fulvio; Mazzotta, Concetta; Battini, Roberta; Bertini, Enrico Silvio; Boltshauser, Eugen; Borgatti, Renato; Brockmann, Knut; D'Arrigo, Stefano; Nardocci, Nardo; Fischetto, Rita; Agolini, Emanuele; Novelli, Antonio; Romano, Alfonso; Romaniello, Romina; Stanzial, Franco; Signorini, Sabrina; Strisciuglio, Pietro; Gana, Simone; Mazza, Tommaso; Doherty, Dan; Valente, Enza Maria

EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome

发病时的脑电图和MRI可预测Aicardi综合征的长期临床结局

CLINICAL NEUROPHYSIOLOGY

IF3.6

2022-10-011

PRE

Masnada, Silvia; Alfei, Enrico; Formica, Manuela; Previtali, Roberto; Accorsi, Patrizia; Arrigoni, Filippo; Bonanni, Paolo; Borgatti, Renato; Darra, Francesca; Fusco, Carlo; De Giorgis, Valentina; Giordano, Lucio; La Briola, Francesca; Orcesi, Simona; Osanni, Elisa; Parazzini, Cecilia; Pinelli, Lorenzo; Rebessi, Erika; Romaniello, Romina; Romeo, Antonino; Spagnoli, Carlotta; Uebler, Christian; Varesio, Costanza; Viri, Maurizio; Zucca, Claudio; Pichiecchio, Anna; Veggiotti, Pierangelo

Expanding the natural history of CASK-related disorders to the prenatal period

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2022-09-295