Search Results - Romani, Marta

Joubert syndrome: congenital cerebellar ataxia with the “molar tooth” by Romani, Marta, Micalizzi, Alessia, Valente, Enza Maria

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“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies by Romani, Marta, Mehawej, Cybel, Mazza, Tommaso, Mégarbané, Andre, Valente, Enza Maria

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Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl by Jain, Sakshi, Bhasin, Himani, Romani, Marta, valente, Enza maria, Sharma, Suvasini

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Conventional Protein Kinase C Inhibition Prevents Alpha Interferon-Mediated Hepatitis C Virus Replicon Clearance by Impairing STAT Activation by Fimia, Gian Maria, Evangelisti, Cristina, Alonzi, Tonino, Romani, Marta, Fratini, Federica, Paonessa, Giacomo, Ippolito, Giuseppe, Tripodi, Marco, Piacentini, Mauro

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Ex vivo acidic preconditioning enhances bone marrow ckit(+) cell therapeutic potential via increased CXCR4 expression by Cencioni, Chiara, Melchionna, Roberta, Straino, Stefania, Romani, Marta, Cappuzzello, Claudia, Annese, Valentina, Wu, Joseph C., Pompilio, Giulio, Santoni, Angela, Gaetano, Carlo, Napolitano, Monica, Capogrossi, Maurizio C.

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome by Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria Teresa, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio, Maria Alessandra, Darra, Francesca, Máté, Adrienn, Zimmermann, Alíz, Gouider-Khouja, Neziha, Valente, Enza Maria

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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome by 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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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone by Li, Chunmei, Jensen, Victor L., Park, Kwangjin, Kennedy, Julie, Garcia-Gonzalo, Francesc R., Romani, Marta, De Mori, Roberta, Bruel, Ange-Line, Gaillard, Dominique, Doray, Bérénice, Lopez, Estelle, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel, Reiter, Jeremy F., Blacque, Oliver E., Valente, Enza Maria, Leroux, Michel R.

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Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus by Prudente, Sabrina, Jungtrakoon, Prapaporn, Marucci, Antonella, Ludovico, Ornella, Buranasupkajorn, Patinut, Mazza, Tommaso, Hastings, Timothy, Milano, Teresa, Morini, Eleonora, Mercuri, Luana, Bailetti, Diego, Mendonca, Christine, Alberico, Federica, Basile, Giorgio, Romani, Marta, Miccinilli, Elide, Pizzuti, Antonio, Carella, Massimo, Barbetti, Fabrizio, Pascarella, Stefano, Marchetti, Piero, Trischitta, Vincenzo, Di Paola, Rosa, Doria, Alessandro

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GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome by Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J., Raymond, F. Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C., Mohammad, Shekeeb S., Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A., Guerrini, Renzo

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes by Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria

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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) by Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, von Moers, Arpad, Wente, Sarah, Ziegler, Andreas, Zonta, Andrea, Bertini, Enrico, Boltshauser, Eugen, Valente, Enza Maria

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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium by Thomas, Sophie, Wright, Kevin J., Le Corre, Stéphanie, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean-Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, Chassaing, Nicolas, Encha-Ravazi, Ferechté, Vekemans, Michel, Gleeson, Joseph G., Valente, Enza Maria, Jackson, Peter K., Drummond, Iain A., Saunier, Sophie, Attié-Bitach, Tania

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Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? by Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria

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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects by 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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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome by Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G

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