Хайлтын үр дүнгүүд - Capponi, Simona

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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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