cerebellar diseases

  • SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
    Valentina Serpieri, Fulvio D’Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente
  • Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
    Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M Alhashem, Steve Lisgo, Alberto Fernández-Jaén, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F Smithson, Susan Lindsay, Hayley J Sharpe, Fowzan S Alkuraya, Geoff Woods
  • Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
    Sara Nuovo, Alessia Micalizzi, Romina Romaniello, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente
  • Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
    Francesco Nicita, Monia Ginevrino, Lorena Travaglini, Stefano D'Arrigo, Giovanna Zorzi, Renato Borgatti, Gaetano Terrone, Michela Catteruccia, Gessica Vasco, Vesna Brankovic, Sabrina Siliquini, Silvia Romano, Chiara Veredice, Marina Pedemonte, Michelina Armando, Donatella Lettori, Fabrizia Stregapede, Luca Bosco, Antonella Sferra, Valeria Tessarollo, Romina Romaniello, Giovanni Ristori, Enrico Bertini, Enza Maria Valente, Ginevra Zanni