檢索結果 - Capponi, Simona

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

獲取全文 獲取全文 獲取全文

Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 由 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

獲取全文 獲取全文 獲取全文

Co-translational assembly of mammalian nuclear multisubunit complexes 由 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

獲取全文 獲取全文 獲取全文

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 由 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

獲取全文 獲取全文 獲取全文

Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100 由 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

獲取全文 獲取全文 獲取全文

Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism 由 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

獲取全文 獲取全文 獲取全文

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity 由 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.

獲取全文 獲取全文 獲取全文