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Publications: Nowak, Kristen

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Number of items: 12.

Journal Article

Coote, D.J., Davis, M.R., Cabrera, M., Needham, M., Laing, N.G. and Nowak, K.J. (2018) CUGC for Duchenne muscular dystrophy (DMD). European Journal of Human Genetics, 26 (5). pp. 749-757.

Coote, D.J., Davis, M.R., Cabrera, M., Needham, M., Laing, N.G. and Nowak, K.J. (2018) Clinical Utility Gene Card for: Autosomal dominant myotonia congenita (Thomsen Disease). European Journal of Human Genetics . In Press.

Coote, D., Davis, M.R., Cabrera, M., Needham, M., Laing, N.G. and Nowak, K.J. (2018) Clinical Utility Gene Card for: Becker muscular dystrophy. European Journal of Human Genetics . In Press.

Nowak, K.J., Bauskis, A., Dawkins, H.J. and Baynam, G. (2018) Incidental inequity. European Journal of Human Genetics, 26 . pp. 616-617.

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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