1. A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. Issue 5 (25th March 2015) Authors: Romaniello, Romina; Saettini, Francesco; Panzeri, Elena; Arrigoni, Filippo; Bassi, Maria T.; Borgatti, Renato Journal: NeuroReport Issue: Volume 26:Issue 5(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Novel Mutation in STXBP1 Gene in a Child With Epileptic Encephalopathy and an Atypical Electroclinical Pattern. (February 2014) Authors: Romaniello, Romina; Zucca, Claudio; Tenderini, Erika; Arrigoni, Filippo; Ragona, Francesca; Zorzi, Giovanna; Bassi, Maria Teresa; Borgatti, Renato Journal: Journal of child neurology Issue: Volume 29:Number 2(2014:Feb.) Page Start: 249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. Issue 8 (3rd August 2010) Authors: Romaniello, Romina; Zucca, Claudio; Tonelli, Alessandra; Bonato, Sara; Baschirotto, Cinzia; Zanotta, Nicoletta; Epifanio, Roberta; Righini, Andrea; Bresolin, Nereo; Bassi, Maria T; Borgatti, Renato Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 81:Issue 8(2010) Page Start: 840 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Age and sex prevalence estimate of Joubert syndrome in Italy. (25th February 2020) Authors: Nuovo, Sara; Bacigalupo, Ilaria; Ginevrino, Monia; Battini, Roberta; Bertini, Enrico; Borgatti, Renato; Casella, Antonella; Micalizzi, Alessia; Nardella, Marta; Romaniello, Romina; Serpieri, Valentina; Zanni, Ginevra; Valente, Enza Maria; Vanacore, Nicola Journal: Neurology Issue: Volume 94:Number 8(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome. (2nd March 2021) Authors: Masnada, Silvia; Pichiecchio, Anna; Formica, Manuela; Arrigoni, Filippo; Borrelli, Paola; Accorsi, Patrizia; Bonanni, Paolo; Borgatti, Renato; Bernardina, Bernardo Dalla; Danieli, Alberto; Darra, Francesca; Deconinck, Nicolas; De Giorgis, Valentina; Dulac, Olivier; Gataullina, Svetlana; Giordano,... Journal: Neurology Issue: Volume 96:Number 9(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Brain malformations and mutations in α‐ and β‐tubulin genes: a review of the literature and description of two new cases. (7th January 2014) Authors: Romaniello, Romina; Arrigoni, Filippo; Cavallini, Anna; Tenderini, Erika; Baschirotto, Cinzia; Triulzi, Fabio; Bassi, Maria‐Teresa; Borgatti, Renato Journal: Developmental medicine & child neurology Issue: Volume 56:Number 4(2014:Apr.) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. CASK related disorder: Epilepsy and developmental outcome. (March 2021) Authors: Giacomini, Thea; Nuovo, Sara; Zanni, Ginevra; Mancardi, Maria Margherita; Cusmai, Raffaella; Pepi, Chiara; Bertini, Enrico; Valente, Enza Maria; Battini, Roberta; Ferrari, Annarita; Romaniello, Romina; Zucca, Claudio; Borgatti, Renato; Uccella, Sara; Severino, Mariasavina; Striano, Pasquale; Pist... Journal: European journal of paediatric neurology Issue: Volume 31(2021) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cerebroretinal Microangiopathy With Calcifications and Cysts Associated With CTC1 and NDP Mutations. (December 2013) Authors: Romaniello, Romina; Arrigoni, Filippo; Citterio, Andrea; Tonelli, Alessandra; Sforzini, Cinzia; Rizzari, Carmelo; Pessina, Marco; Triulzi, Fabio; Bassi, Maria Teresa; Borgatti, Renato Journal: Journal of child neurology Issue: Volume 28:Number 12(2013) Page Start: 1702 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective. Issue 18 (28th August 2022) Authors: Romaniello, Romina; Gagliardi, Chiara; Desalvo, Patrizia; Provenzi, Livio; Battini, Roberta; Bertini, Enrico; Bonati, Maria Teresa; Briguglio, Marilena; D'Arrigo, Stefano; Dotti, Maria Teresa; Giordano, Lucio; Macaluso, Claudio; Moroni, Isabella; Nuovo, Sara; Santucci, Margherita; Signorini, Sabr... Journal: Disability and rehabilitation Issue: Volume 44:Issue 18(2022) Page Start: 4966 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum. (January 2017) Authors: Romaniello, Romina; Marelli, Susan; Giorda, Roberto; Bedeschi, Maria F.; Bonaglia, Maria C.; Arrigoni, Filippo; Triulzi, Fabio; Bassi, Maria T.; Borgatti, Renato Journal: Journal of child neurology Issue: Volume 32:Number 1(2017:Jan.) Page Start: 60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗