Novel autosomal dominant TNNT1 mutation causing nemaline myopathy

por Konersman, Chamindra G., Freyermuth, Fernande, Winder, Thomas L., Lawlor, Michael W., Lagier‐Tourenne, Clotilde, Patel, Shailendra B.
Publicado 2017

Medical management of muscle weakness in Duchenne muscular dystrophy

por Rivera, Sarah R., Jhamb, Sumit K., Abdel-Hamid, Hoda Z., Acsadi, Gyula, Brandsema, John, Ciafaloni, Emma, Darras, Basil T., Iannaccone, Susan T., Konersman, Chamindra G., Kuntz, Nancy L., McDonald, Craig M., Parsons, Julie A., Tesi Rocha, Carolina, Zaidman, Craig M., Butterfield, Russell J., Connolly, Anne M., Mathews, Katherine D.
Publicado 2020

Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G

por Lee, Angela J., Jones, Karra A., Butterfield, Russell J., Cox, Mary O., Konersman, Chamindra G., Grosmann, Carla, Abdenur, Jose E., Boyer, Monica, Beson, Brent, Wang, Ching, Dowling, James J., Gibbons, Melissa A., Ballard, Alison, Janas, Joanne S., Leshner, Robert T., Donkervoort, Sandra, Bönnemann, Carsten G., Malicki, Denise M., Weiss, Robert B., Moore, Steven A., Mathews, Katherine D.
Publicado 2019