Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia von Di Rocco, Martina, Galosi, Serena, Lanza, Enrico, Tosato, Federica, Caprini, Davide, Folli, Viola, Friedman, Jennifer, Bocchinfuso, Gianfranco, Martire, Alberto, Di Schiavi, Elia, Leuzzi, Vincenzo, Martinelli, Simone

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Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders von Coppola, Simona, Insalaco, Antonella, Zara, Erika, Di Rocco, Martina, Marafon, Denise Pires, Spadaro, Francesca, Pannone, Luca, Farina, Luciapia, Pasquini, Luca, Martinelli, Simone, De Benedetti, Fabrizio, Tartaglia, Marco

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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair von Gelb, Bruce D, Tartaglia, Marco, Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A, Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C, Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B, Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo

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C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples von Lanza, Enrico, Di Rocco, Martina, Schwartz, Silvia, Caprini, Davide, Milanetti, Edoardo, Ferrarese, Giuseppe, Lonardo, Maria Teresa, Pannone, Luca, Ruocco, Giancarlo, Martinelli, Simone, Folli, Viola

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Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling von Galosi, Serena, Pollini, Luca, Novelli, Maria, Bernardi, Katerina, Di Rocco, Martina, Martinelli, Simone, Leuzzi, Vincenzo

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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype von Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome von Tartaglia, Marco, Gelb, Bruce D, Pennacchio, Len A, Zhao, Chen, Yadav, Kamlesh K, Fodale, Valentina, Sarkozy, Anna, Pandit, Bhaswati, Oishi, Kimihiko, Martinelli, Simone, Schackwitz, Wendy, Ustaszewska, Anna, Martin, Joel, Bristow, James, Carta, Claudio, Lepri, Francesca, Neri, Cinzia, Vasta, Isabella, Gibson, Kate, Curry, Cynthia J, Siguero, Juan Pedro López, Digilio, Maria Cristina, Zampino, Giuseppe, Dallapiccola, Bruno, Bar-Sagi, Dafna

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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome von Cordeddu, Viviana, Yin, Jiani C., Gunnarsson, Cecilia, Virtanen, Carl, Drunat, Séverine, Lepri, Francesca, De Luca, Alessandro, Rossi, Cesare, Ciolfi, Andrea, Pugh, Trevor J., Bruselles, Alessandro, Priest, James R., Pennacchio, Len A., Lu, Zhibin, Danesh, Arnavaz, Quevedo, Rene, Hamid, Alaa, Martinelli, Simone, Pantaleoni, Francesca, Gnazzo, Maria, Daniele, Paola, Lissewski, Christina, Bocchinfuso, Gianfranco, Stella, Lorenzo, Odent, Sylvie, Philip, Nicole, Faivre, Laurence, Vlckova, Marketa, Seemanova, Eva, Digilio, Cristina, Zenker, Martin, Zampino, Giuseppe, Verloes, Alain, Dallapiccola, Bruno, Roberts, Amy E., Cavé, Hélène, Gelb, Bruce D., Neel, Benjamin G., Tartaglia, Marco

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Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia von Flex, Elisabetta, Petrangeli, Valentina, Stella, Lorenzo, Chiaretti, Sabina, Hornakova, Tekla, Knoops, Laurent, Ariola, Cristina, Fodale, Valentina, Clappier, Emmanuelle, Paoloni, Francesca, Martinelli, Simone, Fragale, Alessandra, Sanchez, Massimo, Tavolaro, Simona, Messina, Monica, Cazzaniga, Giovanni, Camera, Andrea, Pizzolo, Giovanni, Tornesello, Assunta, Vignetti, Marco, Battistini, Angela, Cavé, Hélène, Gelb, Bruce D, Renauld, Jean-Christophe, Biondi, Andrea, Constantinescu, Stefan N, Foà, Robin, Tartaglia, Marco

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Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature von Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca Clementina, Ruivenkamp, Claudia A L, Santen, Gijs W E, Bijlsma, Emilia, Barge-Schaapveld, Daniela, Ounap, Katrin, Siu, Victoria Mok, Kooy, R Frank, Dallapiccola, Bruno, Sadikovic, Bekim, Tartaglia, Marco

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Merlin Falco columbarius preys and feeds offshore von Fraticelli, Fulvio, Franco, Federica, Martinelli, Simone, Muratore, Sergio, Larroux, Nicola, Pavesi, Alessandro

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RAS signaling dysregulation in human embryonal Rhabdomyosarcoma von Martinelli, Simone, McDowell, Heather P., Vigne, Silvia Delle, Kokai, George, Uccini, Stefania, Tartaglia, Marco, Dominici, Carlo

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The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans von Pannone, Luca, Muto, Valentina, Nardecchia, Francesca, Di Rocco, Martina, Marchei, Emilia, Tosato, Federica, Petrini, Stefania, Onorato, Giada, Lanza, Enrico, Bertuccini, Lucia, Manti, Filippo, Folli, Viola, Galosi, Serena, Di Schiavi, Elia, Leuzzi, Vincenzo, Tartaglia, Marco, Martinelli, Simone

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Bioplastic Film from Black Soldier Fly Prepupae Proteins Used as Mulch: Preliminary Results von Setti, Leonardo, Francia, Enrico, Pulvirenti, Andrea, De Leo, Riccardo, Martinelli, Simone, Maistrello, Lara, Macavei, Laura Ioana, Montorsi, Monia, Barbi, Silvia, Ronga, Domenico

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Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course von Stellacci, Emilia, Martinelli, Simone, Carbone, Pietro, Demuru, Elena, Genuardi, Maurizio, Ghiorzo, Paola, Novelli, Giuseppe, Di Pucchio, Alessandra, Regini, Federica Maria, Guerrera, Debora, Vittozzi, Andrea, Barbina, Donatella, Venanzi, Serenella, van den Bulcke, Marc, Boccia, Stefania, Mazzaccara, Alfonso, De Nicolo, Arcangela, De Angelis, Roberta

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Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties von Benedetti, Maria Cristina, D'andrea, Tiziano, Colantoni, Alessio, Silachev, Denis, de Turris, Valeria, Boussadia, Zaira, Babenko, Valentina A., Volovikov, Egor A., Belikova, Lilia, Bogomazova, Alexandra N., Pepponi, Rita, Whye, Dosh, Buttermore, Elizabeth D., Tartaglia, Gian Gaetano, Lagarkova, Maria A., Katanaev, Vladimir L., Musayev, Ilya, Martinelli, Simone, Fucile, Sergio, Rosa, Alessandro

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Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes von Martinelli, Simone, Torreri, Paola, Tinti, Michele, Stella, Lorenzo, Bocchinfuso, Gianfranco, Flex, Elisabetta, Grottesi, Alessandro, Ceccarini, Marina, Palleschi, Antonio, Cesareni, Gianni, Castagnoli, Luisa, Petrucci, Tamara C., Gelb, Bruce D., Tartaglia, Marco

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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations von Dentici, Maria Lisa, Sarkozy, Anna, Pantaleoni, Francesca, Carta, Claudio, Lepri, Francesca, Ferese, Rosangela, Cordeddu, Viviana, Martinelli, Simone, Briuglia, Silvana, Digilio, Maria Cristina, Zampino, Giuseppe, Tartaglia, Marco, Dallapiccola, Bruno

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Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in N... von Martinelli, Simone, Nardozza, Aurelio P., Delle Vigne, Silvia, Sabetta, Gilda, Torreri, Paola, Bocchinfuso, Gianfranco, Flex, Elisabetta, Venanzi, Serenella, Palleschi, Antonio, Gelb, Bruce D., Cesareni, Gianni, Stella, Lorenzo, Castagnoli, Luisa, Tartaglia, Marco

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Microwave heating controlled reactive melt infiltration for graphite‐Si‐SiC ceramics manufacturing von Cornolti, Luca, Martinelli, Simone, Bianchi, Giovanni, Ortona, Alberto

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