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Publications: Nowak, Kristen

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Number of items: 8.

Journal Article

Sambuughin, N., Yau, K.S., Olivé, M., Duff, R.M., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K.J., Ravenscroft, G., Mastaglia, F.L., North, K.N., Ilkovski, B., Kremer, H., Lammens, M., van Engelen, B.G.M., Fabian, V., Lamont, P., Davis, M.R., Laing, N.G. and Goldfarb, L.G. (2011) Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. The American Journal of Human Genetics, 88 (1). p. 122.

Sambuughin, N., Yau, K.S., Olivé, M., Duff, R.M., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K.J., Ravenscroft, G., Mastaglia, F.L., North, K.N., Ilkovski, B., Kremer, H., Lammens, M., van Engelen, B.G.M., Fabian, V., Lamont, P., Davis, M.R., Laing, N.G. and Goldfarb, L.G. (2010) Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. The American Journal of Human Genetics, 87 (6). pp. 842-847.

Akkari, P.A., Nowak, K.J., Beckman, K., Walker, K.R., Schachat, F. and Laing, N.G (2003) Production of human skeletal α-actin proteins by the baculovirus expression system. Biochemical and Biophysical Research Communications, 307 (1). pp. 74-79.

Thirion, C., Stucka, R., Mendel, B., Gruhler, A., Jaksch, M., Nowak, K.J., Binz, N., Laing, N.G. and Lochmüller, H. (2001) Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. European Journal of Biochemistry, 268 (12). pp. 3473-3482.

Nowak, K.J., Walsh, P., Jacob, R.L., Johnsen, R.D., Peverall, J., McNally, E.M., Wilton, S.D., Kakulas, B.A. and Laing, N.G. (2000) Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion. Neuromuscular Disorders, 10 (2). pp. 100-107.

Nowak, K.J., Wattanasirichaigoon, D., Goebel, H.H., Wilce, M., Pelin, K., Donner, K., Jacob, R.L., Hübner, C., Oexle, K., Anderson, J.R., Verity, C.M., North, K.N., Iannaccone, S.T., Müller, C.R., Nürnberg, P., Muntoni, F., Sewry, C., Hughes, I., Sutphen, R., Lacson, A.G., Swoboda, K.J., Vigneron, J., Wallgren-Pettersson, C. and Beggs, A.H. (1999) Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics, 23 (2). pp. 208-212.

Mastaglia, F.L., Nowak, K.J., Stell, R., Phillips, B.A., Edmondston, J.E., Dorosz, S.M., Wilton, S.D., Hallmayer, J., Kakulas, B.A. and Laing, N.G. (1999) Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. Journal of Neurology, Neurosurgery & Psychiatry, 67 (2). pp. 174-179.

Conference Item

Nowak, K., Walsh, P., Jacob, R., Johnsen, R., Wilton, S., Kakulas, B. and Laing, N. (1998) Novel gamma-sarcoglycan missense mutation in sisters with muscular dystrophy. In: 3rd International Congress of World Muscle Society, 29 - 30 May 1998, Naples, Italy.

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