The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis von Arrigoni, Filippo, Romaniello, Romina, Peruzzo, Denis, Poretti, Andrea, Bassi, Maria Teresa, Pierpaoli, Carlo, Valente, Enza Maria, Nuovo, Sara, Boltshauser, Eugen, Huisman, Thierry André Gerard Marie, Triulzi, Fabio, Borgatti, Renato

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Age and sex prevalence estimate of Joubert syndrome in Italy von 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

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Novel unconventional variants expand the allelic spectrum of OPHN1 gene von Nuovo, Sara, Brankovic, Vesna, Caputi, Caterina, Casella, Antonella, Nigro, Vincenzo, Leuzzi, Vincenzo, Valente, Enza Maria

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Healthcare recommendations for Joubert syndrome von Bachmann‐Gagescu, Ruxandra, Dempsey, Jennifer C., Bulgheroni, Sara, Chen, Maida L., D'Arrigo, Stefano, Glass, Ian A., Heller, Theo, Héon, Elise, Hildebrandt, Friedhelm, Joshi, Nirmal, Knutzen, Dana, Kroes, Hester Y., Mack, Stephen H., Nuovo, Sara, Parisi, Melissa A., Snow, Joseph, Summers, Angela C., Symons, Jordan M., Zein, Wadih M., Boltshauser, Eugen, Sayer, John A., Gunay‐Aygun, Meral, Valente, Enza Maria, Doherty, Dan

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A novel IRF2BPL truncating variant is associated with endolysosomal storage von Ginevrino, Monia, Battini, Roberta, Nuovo, Sara, Simonati, Alessandro, Micalizzi, Alessia, Contaldo, Ilaria, Serpieri, Valentina, Valente, Enza Maria

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The Use of New Mobile and Gaming Technologies for the Assessment and Rehabilitation of People with Ataxia: a Systematic Review and Meta-analysis von Lacorte, Eleonora, Bellomo, Guido, Nuovo, Sara, Corbo, Massimo, Vanacore, Nicola, Piscopo, Paola

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Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype von Nuovo, Sara, Micalizzi, Alessia, D'Arrigo, Stefano, Ginevrino, Monia, Biagini, Tommaso, Mazza, Tommaso, Valente, Enza Maria

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Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations von Graziani, Ludovico, Nuovo, Sara, Pisaneschi, Elisa, Carriero, Miriam Lucia, Baghernajad Salehi, Leila, Nardone, Anna Maria, Manganaro, Lucia, Novelli, Antonio, D'Apice, Maria Rosaria, Mappa, Ilenia, Novelli, Giuseppe

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Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance von Nuovo, Sara, Baglioni, Valentina, De Mori, Roberta, Tardivo, Silvia, Caputi, Caterina, Ginevrino, Monia, Micalizzi, Alessia, Masuelli, Laura, Federici, Giulia, Casella, Antonella, Lorefice, Elisa, Anello, Danila, Tolve, Manuela, Farini, Donatella, Bertini, Enrico, Zanni, Ginevra, Travaglini, Lorena, Vasco, Gessica, Sette, Claudio, Carducci, Carla, Valente, Enza M., Leuzzi, Vincenzo

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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome von Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D’Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco

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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation von Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia, Citterio, Andrea, Bedeschi, Maria Francesca, Berardinelli, Angela, Cusmai, Raffaella, D’Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara, Oehl-Jaschkowitz, Barbara, Rossi, Andrea, Signorini, Sabrina, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, Enza Maria, Borgatti, Renato

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Targeted Next Generation Sequencing in patients with Myotonia Congenita von Ferradini, Valentina, Cassone, Marco, Nuovo, Sara, Bagni, Ilaria, D'Apice, Maria Rosaria, Botta, Annalisa, Novelli, Giuseppe, Sangiuolo, Federica

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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects von De Mori, Roberta, Romani, Marta, D’Arrigo, Stefano, Zaki, Maha S., Lorefice, Elisa, Tardivo, Silvia, Biagini, Tommaso, Stanley, Valentina, Musaev, Damir, Fluss, Joel, Micalizzi, Alessia, Nuovo, Sara, Illi, Barbara, Chiapparini, Luisa, Di Marcotullio, Lucia, Issa, Mahmoud Y., Anello, Danila, Casella, Antonella, Ginevrino, Monia, Leggins, Autumn Sa’na, Roosing, Susanne, Alfonsi, Romina, Rosati, Jessica, Schot, Rachel, Mancini, Grazia Maria Simonetta, Bertini, Enrico, Dobyns, William B., Mazza, Tommaso, Gleeson, Joseph G., Valente, Enza Maria

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Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development von Whitman, Mary C., Andrews, Caroline, Chan, Wai-Man, Tischfield, Max A., Stasheff, Steven F., Brancati, Francesco, Ortiz-Gonzalez, Xilma, Nuovo, Sara, Garaci, Francesco, MacKinnon, Sarah E., Hunter, David G., Grant, P. Ellen, Engle, Elizabeth C.

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CASK related disorder: Epilepsy and developmental outcome von 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, Pistorio, Angela, Prato, Giulia, De Grandis, Elisa, Nobili, Lino, Pisciotta, Livia

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Healthcare recommendations for Joubert syndrome von Bachmann-Gagescu, Ruxandra, Dempsey, Jennifer C, Bulgheroni, Sara, Chen, Maida L, D'Arrigo, Stefano, Glass, Ian A, Heller, Theo, Héon, Elise, Hildebrandt, Friedhelm, Joshi, Nirmal, Knutzen, Dana, Kroes, Hester Y, Mack, Stephen H, Nuovo, Sara, Parisi, Melissa A, Snow, Joseph, Summers, Angela C, Symons, Jordan M, Zein, Wadih M, Boltshauser, Eugen, Sayer, John A, Gunay-Aygun, Meral, Valente, Enza Maria, Doherty, Dan

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Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation von Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia, Citterio, Andrea, Bedeschi, Maria Francesca, Berardinelli, Angela, Cusmai, Raffaella, D’Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara, Oehl-Jaschkowitz, Barbara, Rossi, Andrea, Signorini, Sabrina, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, Enza Maria, Borgatti, Renato

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Movement disorders and brain iron overload in a new subtype of aceruloplasminemia von Melgari, Jean-Marc, Marano, Massimo, Quattrocchi, Carlo Cosimo, Piperno, Alberto, Arosio, Cristina, Frontali, Marina, Nuovo, Sara, Siotto, Mariacristina, Salomone, Gaetano, Altavilla, Riccardo, di Biase, Lazzaro, Scrascia, Federica, Squitti, Rosanna, Vernieri, Fabrizio

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Age and sex prevalence estimate of Joubert syndrome in Italy von 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

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The Use of New Mobile and Gaming Technologies for the Assessment and Rehabilitation of People with Ataxia: a Systematic Review and Meta-analysis von Lacorte, Eleonora, Bellomo, Guido, Nuovo, Sara, Corbo, Massimo, Vanacore, Nicola, Piscopo, Paola

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