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Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice
de Winter, Josine M, Gineste, Charlotte, Minardi, Elisa, Brocca, Lorenza, Rossi, Maira, Borsboom, Tamara, Beggs, Alan H, Bernard, Monique, Bendahan, David, Hwee, Darren T, Malik, Fady I, Pellegrino, Maria Antonietta, Bottinelli, Roberto, Gondin, Julien, Ottenheijm, Coen A C
Published in Human molecular genetics (26.06.2021)
Published in Human molecular genetics (26.06.2021)
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Journal Article
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
Haghighi, Alireza, Alvandi, Zahra, Nilipour, Yalda, Haghighi, Amirreza, Kornreich, Ruth, Nafissi, Shahriar, Desnick, Robert J.
Published in European journal of human genetics : EJHG (01.11.2023)
Published in European journal of human genetics : EJHG (01.11.2023)
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Journal Article
ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy
Gartz, Melanie, Haberman, Margaret, Sutton, Jessica, Slick, Rebecca A., Luttrell, Shawn M., Mack, David L., Lawlor, Michael W.
Published in Experimental cell research (15.03.2023)
Published in Experimental cell research (15.03.2023)
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Journal Article
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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Journal Article
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients
Piga, Daniela, Magri, Francesca, Ronchi, Dario, Corti, Stefania, Cassandrini, Denise, Mercuri, Eugenio, Tasca, Giorgio, Bertini, Enrico, Fattori, Fabiana, Toscano, Antonio, Messina, Sonia, Moroni, Isabella, Mora, Marina, Moggio, Maurizio, Colombo, Irene, Giugliano, Teresa, Pane, Marika, Fiorillo, Chiara, D’Amico, Adele, Bruno, Claudio, Nigro, Vincenzo, Bresolin, Nereo, Comi, Giacomo Pietro
Published in Journal of molecular neuroscience (01.07.2016)
Published in Journal of molecular neuroscience (01.07.2016)
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Journal Article