Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Authors: O’Grady, Gina L., Best, Heather A., Sztal, Tamar E., Schartner, Vanessa, Sanjuan-Vazquez, Myriam, Donkervoort, Sandra, Abath Neto, Osorio, Sutton, Roger Bryan, Ilkovski, Biljana, Romero, Norma Beatriz, Stojkovic, Tanya, Dastgir, Jahannaz, Waddell, Leigh B., Boland, Anne, Hu, Ying, Williams, Caitlin, Ruparelia, Avnika A., Maisonobe, Thierry, Peduto, Anthony J., Reddel, Stephen W., Lek, Monkol, Tukiainen, Taru, Cummings, Beryl B., Joshi, Himanshu, Nectoux, Juliette, Brammah, Susan, Deleuze, Jean-François, Ing, Viola Oorschot, Ramm, Georg, Ardicli, Didem, Nowak, Kristen J., Talim, Beril, Topaloglu, Haluk, Laing, Nigel G., North, Kathryn N., MacArthur, Daniel G., Friant, Sylvie, Clarke, Nigel F., Bryson-Richardson, Robert J., Bönnemann, Carsten G., Laporte, Jocelyn, Cooper, Sandra T.

Source: In The American Journal of Human Genetics 3 November 2016 99(5):1086-1105

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Authors: O'Grady, Gina L., Best, Heather A., Sztal, Tamar E., Schartner, Vanessa, Sanjuan-Vazquez, Myriam, Donkervoort, Sandra, Abath Neto, Osorio, Sutton, Roger Bryan, Ilkovski, Biljana, Romero, Norma Beatriz, Stojkovic, Tanya, Dastgir, Jahannaz, Waddell, Leigh B., Boland, Anne, Hu, Ying, Williams, Caitlin, Ruparelia, Avnika A., Maisonobe, Thierry, Peduto, Anthony J., Reddel, Stephen W., Lek, Monkol, Tukiainen, Taru, Cummings, Beryl B., Joshi, Himanshu, Nectoux, Juliette, Brammah, Susan, Deleuze, Jean-François, Ing, Viola Oorschot, Ramm, Georg, Ardicli, Didem, Nowak, Kristen J., Talim, Beril, Topaloglu, Haluk, Laing, Nigel G., North, Kathryn N., MacArthur, Daniel G., Friant, Sylvie, Clarke, Nigel F., Bryson-Richardson, Robert J., Bönnemann, Carsten G., Laporte, Jocelyn, Cooper, Sandra T.

Source: American journal of human genetics. 99(5):1086-1105

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100069967289.0x000001&indx=1&recIds=ETOCvdc_100069967289.0x000001

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Authors: Susman, Rachel D., Quijano-Roy, Susana, Yang, Nan, Webster, Richard, Clarke, Nigel F., Dowling, Jim, Kennerson, Marina, Nicholson, Garth, Biancalana, Valerie, Ilkovski, Biljana, Flanigan, Kevin M., Arbuckle, Susan, Malladi, Chandra, Robinson, Phillip, Vucic, Steven, Mayer, Michèle, Romero, Norma B., Urtizberea, Jon Andoni, García-Bragado, Federico, Guicheney, Pascale, Bitoun, Marc, Carlier, Robert-Yves, North, Kathryn N.

Source: In Neuromuscular Disorders 2010 20(4):229-237

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

Authors: Compton, Alison G., Albrecht, Douglas E., Seto, Jane T., Cooper, Sandra T., Ilkovski, Biljana, Jones, Kristi J., Challis, Daniel, Mowat, David, Ranscht, Barbara, Bahlo, Melanie, Froehner, Stanley C., North, Kathryn N.

Source: In The American Journal of Human Genetics 12 December 2008 83(6):714-724

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred

Authors: Hutchinson, David O., Charlton, Amanda, Laing, Nigel G., Ilkovski, Biljana, North, Kathryn N.

Source: In Neuromuscular Disorders 2006 16(2):113-121

Defining α-skeletal and α-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

Authors: Ilkovski, Biljana, Clement, Sophie, Sewry, Caroline, North, Kathryn N., Cooper, Sandra T.

Source: In Neuromuscular Disorders 2005 15(12):829-835

Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene.

Authors: Ilkovski, Biljana, Cooper, Sandra T., Nowak, Kristen

Source: American Journal of Human Genetics; June 2001, Vol. 68 Issue 6, p1333-1343, 11p

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

Authors: 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.

Source: In The American Journal of Human Genetics 2010 87(6):842-847

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Muscle weakness in TPM3-myopathy is due to reduced Ca²⁺-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Authors: Yuen, Michaela, Cooper, Sandra T., Marston, Steve B., Nowak, Kristen J., McNamara, Elyshia, Mokbel, Nancy, Ilkovski, Biljana, Ravenscroft, Gianina, Rendu, John, de Winter, Josine M., Klinge, Lars, Beggs, Alan H., North, Kathryn N., Ottenheijm, Coen A. C., Clarke, Nigel F.

Source: Human Molecular Genetics; 11/15/2015, Vol. 24 Issue 22, p6278-6292, 15p

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