RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

F. Brancati, L. Travaglini, D. Zablocka, E. Boltshauser, P. Accorsi, G. Montagna, J. L. Silhavy, G. Barrano, E. Bertini, F. Emma, L. Rigoli, Richard Leventer, Padraic Grattan-Smith, Andreas Janecke, Marc D'Hooghe, Rudy Van Coster, Karin Dias, Carla Moco, Ana Moreira, Chong Ae KimGustavo Maegawa, Ghada M H Abdel-Salam, Alice Abdel-Aleem, Maha S. Zaki, Itxaso Marti, Susana Quijano-Roy, Pascale de Lonlay, Stephane Romano, Alain Verloes, Renaud Touraine, Michel Koenig, Clotilde Lagier-Tourenne, Jean Messer, Heike Philippi, Sofia Kitsiou Tzeli, Saevar Halldorsson, Jonina Johannsdottir, Peter Ludvigsson, Shubha R. Phadke, Bernard Stuart, Alex Magee, Dorit Lev, Marina Michelson, Bruria Ben-Zeev, Rita Fischetto, Mattia Gentile, Silvia Battaglia, Lucio Giordano, Lorenzo Pinelli, Loredana Boccone, Martino Ruggieri, Stefania Bigoni, Alessandra Ferlini, Maria Alice Donati, Elena Procopio, Gianluca Caridi, Francesca Faravelli, Gianmarco Ghiggeri, Silvana Briuglia, Carmelo D. Salpietro, Gaetano Tortorella, Stefano D'Arrigo, Chiara Pantaleoni, Daria Riva, Graziella Uziel, Anna Maria Laverda, Alberto Permunian, Stefania Bova, Roberta Battini, Maria Roberta Cilio, Marilu Di Sabato, Vincenzo Leuzzi, Pasquale Parisi, Alessandro Simonati, Asma A. Al-Tawari, Laila Bastaki, Ahmad, Mirjam M. de Jong, Roshan Koul, Anna Rajab, Matloob Azam, Clara Barbot, Berta Rodriguez, Ignacio Pascual-Castroviejo, Hulya Kayserili, Sinan Comu, Mustafa Akcakus, Lihadh Al Gazali, Laszlo Sztriha, David Nicholl, C. Geoffrey Woods, Christopher Bennett, Jane Hurst, Raoul Hennekam, Melissa Lees, Saunder Bernes, Henry Sanchez, Aldon E. Clark, Elysa DeMarco, Elysa DeMarco, Clement Donahue, Elliot Sherr, Terence D. Sanger, Tomas E. Gallager, William B. Dobyns, Cynthia Daugherty, Kalpathy S. Krishnamoorthy, Dean Sarco, Christopher A. Walsh, Trudy McKanna, Joanne Milisa, Wendy K. Chung, Darryl C. De Vivo, Hillary Raynes, Romaine Schubert, Alison Seward, David G. Brooks, Amy Goldstein, James Caldwell, Eco Finsecke, Bernard L. Maria, Kenton Holden, Robert P. Cruse, Kathryn J. Swoboda, Dave Viskochil, B. Dallapiccola, J. G. Gleeson, Enza Maria Valente*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

50 Citations (Scopus)

Fingerprint

Dive into the research topics of 'RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders'. Together they form a unique fingerprint.

Medicine & Life Sciences