Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Por Meredith, Christopher, Herrmann, Ralf, Parry, Cheryl, Liyanage, Khema, Dye, Danielle E., Durling, Hayley J., Duff, Rachael M., Beckman, Kaye, de Visser, Marianne, van der Graaff, Maaike M., Hedera, Peter, Fink, John K., Petty, Elizabeth M., Lamont, Phillipa, Fabian, Vicki, Bridges, Leslie, Voit, Thomas, Mastaglia, Frank L., Laing, Nigel G.
Publicado em 2004

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Por 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.
Publicado em 2010

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Por 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.
Publicado em 2011

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Por Duff, Rachael M., Tay, Valerie, Hackman, Peter, Ravenscroft, Gianina, McLean, Catriona, Kennedy, Paul, Steinbach, Alina, Schöffler, Wiebke, van der Ven, Peter F.M., Fürst, Dieter O., Song, Jaeguen, Djinović-Carugo, Kristina, Penttilä, Sini, Raheem, Olayinka, Reardon, Katrina, Malandrini, Alessandro, Gambelli, Simona, Villanova, Marcello, Nowak, Kristen J., Williams, David R., Landers, John E., Brown, Robert H., Udd, Bjarne, Laing, Nigel G.
Publicado em 2011