نتائج البحث - Capponi, Simona

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies حسب Mandich, Paola, Fossa, Paola, Capponi, Simona, Geroldi, Alessandro, Acquaviva, Massimo, Gulli, Rossella, Ciotti, Paola, Manganelli, Fiore, Grandis, Marina, Bellone, Emilia

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Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations حسب Prada, Valeria, Passalacqua, Mario, Bono, Maria, Luzzi, Paola, Scazzola, Sara, Nobbio, Lucilla Alessandra, Capponi, Simona, Bellone, Emilia, Mandich, Paola, Mancardi, Gianluigi, Shy, Michael, Schenone, Angelo, Grandis, Marina

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Co-translational assembly of mammalian nuclear multisubunit complexes حسب Kamenova, Ivanka, Mukherjee, Pooja, Conic, Sascha, Mueller, Florian, El-Saafin, Farrah, Bardot, Paul, Garnier, Jean-Marie, Dembele, Doulaye, Capponi, Simona, Timmers, H. T. Marc, Vincent, Stéphane D., Tora, László

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Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 حسب Capponi, Simona, Geuens, Thomas, Geroldi, Alessandro, Origone, Paola, Verdiani, Simonetta, Cichero, Elena, Adriaenssens, Elias, De Winter, Vicky, Bandettini di Poggio, Monica, Barberis, Marco, Chiò, Adriano, Fossa, Paola, Mandich, Paola, Bellone, Emilia, Timmerman, Vincent

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Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100 حسب Capponi, Simona, Stöffler, Nadja, Irimia, Manuel, Van Schaik, Frederik M.A., Ondik, Mercedes M., Biniossek, Martin L., Lehmann, Lisa, Mitschke, Julia, Vermunt, Marit W., Creyghton, Menno P., Graybiel, Ann M., Reinheckel, Thomas, Schilling, Oliver, Blencowe, Benjamin J., Crittenden, Jill R., Timmers, H. Th. Marc

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Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism حسب Capponi, Simona, Stöffler, Nadja, Penney, Ellen B, Grütz, Karen, Nizamuddin, Sheikh, Vermunt, Marit W, Castelijns, Bas, Fernandez-Cerado, Cara, Legarda, G Paul, Velasco-Andrada, M Salvie, Muñoz, Edwin L, Ang, Mark A, Diesta, Cid Czarina E, Creyghton, Menno P, Klein, Christine, Bragg, D Cristopher, De Rijk, Peter, Timmers, H T Marc

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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity حسب Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Piatek, Stefan G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aimé, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amali, Vogt, Julie, de Munnik, Sonja A., Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Gonçalves, Ana R., Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L., Faivre, Laurence, Riviere, Jean-Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Sacoto, Maria J. Guillen, Douglas, Ganka, Alexander, Nora, Buckley, Michael F., Mark, Paul R., Adès, Lesley C., Sandaradura, Sarah A., Lupski, James R., Roscioli, Tony, Agrawal, Pankaj B., Kline, Antonie D., Wang, Kai, Timmers, H. T. Marc, Lyon, Gholson J.

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