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Publications: Akkari, Anthony

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Jump to: 2020 | 2019 | 2017 | 2007 | 2003 | 2002 | 1999 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991
Number of items: 30.

2020

Pytte, J., Anderton, R.S., Flynn, L.L., Theunissen, F., Jiang, L., Pitout, I., James, I., Mastaglia, F.L., Saunders, A.M., Bedlack, R., Siddique, T., Siddique, N. and Akkari, P.A. (2020) Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis. Neurology Genetics, 6 (2). Art. e406.

Pytte, J., Flynn, L.L., Anderton, R.S., Mastaglia, F.L., Theunissen, F., James, I., Pfaff, A., Kõks, S., Saunders, A.M., Bedlack, R., Burns, D.K., Lutz, M.W., Siddique, N., Siddique, T., Roses, A.D. and Akkari, P.A. (2020) Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort. Neurology Genetics, 6 (4). e470.

Theunissen, F., Flynn, L.L., Anderton, R.S., Mastaglia, F., Pytte, J., Jiang, L., Hodgetts, S., Burns, D.K., Saunders, A., Fletcher, S., Wilton, S.D. and Akkari, P.A. (2020) Structural variants may be a source of missing heritability in sALS. Frontiers in Neuroscience, 14 .

2019

Mejzini, R., Flynn, L.L., Pitout, I.L., Fletcher, S., Wilton, S.D. and Akkari, P.A. (2019) ALS genetics, mechanisms, and therapeutics: Where are we now? Frontiers in Neuroscience, 13 .

Gorecki, A.M., Preskey, L., Bakeberg, M.C., Kenna, J.E., Gildenhuys, C., MacDougall, G., Dunlop, S.A., Mastaglia, F.L., Akkari, P.A., Koengten, F. and Anderton, R.S. (2019) Altered gut microbiome in Parkinson’s disease and the influence of lipopolysaccharide in a human α-Synuclein over-expressing mouse model. Frontiers in Neuroscience, 13 . Article number 839.

Mellough, C.M., Ackerman, M., Thompson, J.A., De Roach, J., McLaren, T., Lamey, T., Akkari, A., Ram, R., Leary, S., Chopra, A., Chen, S.C., Zhang, D., McLenachan, S. and Chen, F.K. (2019) Utilising patient-specific retinal organoids to investigate the role of SNRNP200 variants of unknown significance in severe early onset retinitis pigmentosa. Investigative Ophthalmology and Visual Science, 60 (9). p. 2868.

2017

Fletcher, S., Bellgard, M.I., Price, L., Akkari, A.P. and Wilton, S.D. (2017) Translational development of splice-modifying antisense oligomers. Expert Opinion on Biological Therapy, 17 (1). pp. 15-30.

2007

Webb, B.T., Oord, E., Akkari, A., Wilton, S., Ly, T., Duff, R., Barnes, K.C., Carlsen, K., Gerritsen, J., Lenney, W., Silverman, M., Sly, P., Sundy, J., Tsanakas, J., Berg, A., Whyte, M., Blumenthal, M., Vestbo, J., Middleton, L., Helms, P.J., Anderson, W.H. and Pillai, S.G. (2007) Quantitative linkage genome scan for atopy in a large collection of Caucasian families. Human Genetics, 121 (1). pp. 83-92.

2003

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.

2002

Mastaglia, F.L., Phillips, B.A., Cala, L.A., Meredith, C., Egli, S., Akkari, P.A. and Laing, N.G. (2002) Early onset chromosome 14-linked distal myopathy (Laing). Neuromuscular Disorders, 12 (4). pp. 350-357.

1999

Pelin, K., Hilpela, P., Donner, K., Sewry, C., Akkari, P.A., Wilton, S.D., Wattanasirichaigoon, D., Bang, M-L, Centner, T., Hanefeld, F., Odent, S., Fardeau, M., Urtizberea, J.A., Muntoni, F., Dubowitz, V., Beggs, A.H., Laing, N.G., Labeit, S., de la Chapelle, A. and Wallgren-Pettersson, C. (1999) Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proceedings of the National Academy of Sciences, 96 (5). pp. 2305-2310.

1997

Tan, P., Allen, J.G., Wilton, S.D., Akkari, P.A., Huxtable, C.R. and Laing, N.G. (1997) A splice-site mutation causing ovine McArdle's disease. Neuromuscular Disorders, 7 (5). pp. 336-342.

1996

Laing, N.G., Tan, P., Wilton, S.D., Akkari, P.A., Johnsen, R.D., Sharp, M., Allen, J. and Huxtable, C. (1996) Ovine models of McArdle's disease and muscular dystrophy. In: Gene Therapy Workshop, 30 - 31 May 1996, Australian Neuromuscular Research Institute, Perth, Western Australia.

Tan, P., Wilton, S.D., Akkari, P.A., Sharp, M., Allen, J., Huxtable, C.R. and Laing, N.G. (1996) A splice-site mutation causing ovine McArdle's disease. In: 1st Congress of the World Muscle Society, 25 - 27 September 1996, London, UK.

1995

Wilton, S.D., Eyre, H., Akkari, P.A., Watkins, H.C., MacRae, C., Laing, N.G. and Callen, D.C. (1995) Assignment of the human a-tropomyosin gene TPM3 to 1q22-->q23 by fluorescence in situ hybridisation. Cytogenetics and Cell Genetics, 68 (1-2). pp. 122-124.

Hunt, C.C., Eyre, H.J., Akkari, P.A., Meredith, C., Dorosz, S.M., Wilton, S.D., Callen, D.F., Laing, N.G. and Baker, E. (1995) Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation. Cytogenetics and Cell Genetics, 71 (1). pp. 94-95.

Hunt, C.C.J., Eyre, H.J., Akkari, P.A., Meredith, C., Dorosz, S.M., Wilton, S.D., Callen, D.F. and Laing, N.G. (1995) Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation. In: 15th Annual Meeting of the Australian Neuroscience Society, 1 - 3 February 1995, Perth, Western Australia.

Eyre, H., Akkari, P.A., Wilton, S.D., Callen, D.C., Baker, E. and Laing, N.G. (1995) Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization. Cytogenetics and Cell Genetics, 69 (1-2). pp. 15-17.

Wilton, S., Akkari, A., Dorosz, S., Boundy, K., Kneebone, C., Blumberg, P., White, S., Watkins, H., Love, D. and Laing, N.G. (1995) Autosomal dominant nemaline myopathy - positional cloning to a mutation in tropomyosin 3. In: 5th Annual Queenstown Molecular Biology Meeting, 13 - 18 August 1995, Queenstown, New Zealand.

Tan, P., Wilton, S.D., Akkari, P.A., Sharp, M. and Allen, J. (1995) Frameshift mutation in ovine muscular disease. In: 6th Combined Biological Sciences Meeting, Perth, Western Australia.

Laing, N.G., Wilton, S.D., Akkari, P.A., Dorosz, S.M., Gunn, H.C., Hunt, C.C.J., Lim, L., Meredith, C., Baker, E., Eyre, H.J. and Callen, D.F. (1995) Inherited diseases of skeletal and cardiac muscle associated with contractile proteins. In: Human Genetics Society of Australasia. 19th Annual Scientific Meeting: Genes and Development, 4 - 6 September 1995, Brisbane, QLD.

Akkari, A., Wilton, S., Dorosz, S., Callen, D., Eyre, H., Baker, L., Lim, L., Hunt, C. and Laing, N. (1995) Localization of the tropomyosin genes. In: 17th Annual Conference on the Organisation and Expression of the Genome, 13 - 17 February 1995, Erskine House, Lorne, Victoria.

Wilton, S., Akkari, A., Boundy, K., Kneebone, C., Blumberg, P., White, S., Watkins, H., Love, D. and Laing, N.G. (1995) An actin-binding site mutation in tropomyosin 3 causing autosomal dominant nemaline myopathy. In: Second Asia-Pacific Conference on Medical Genetics and Eijkman Symposium on the Molecular Biology of Disease, 19 - 23 September 1995, Shangri-La Hotel, Jakarta, Indonesia.

Wilton, S.D., Akkari, A., Dorosz, S., Boundy, K. and Kneebone, C. (1995) An actin-binding site mutation in tropomyosin 3 causing autosomal dominant nemaline myopathy. In: 17th Annual Conference on the Organisation and Expression of the Genome, 13 - 17 February 1995, Erskine House, Lorne, Victoria.

Laing, N.G., Wilton, S.D., Akkari, P.A., Dorosz, S., Boundy, K., Kneebone, C., Blumbergs, P., White, S., Watkins, H., Love, D.R. and Haan, E. (1995) A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nature Genetics, 9 (1). pp. 75-79.

Tan, P., Wilton, S.D., Akkari, P.A., Sharp, M., Allen, J., Huxtable, C. and Laing, N.G. (1995) A splice-site mutation causes ovine McArdle's disease. In: 16th Annual Neuroscience Colloquium of Western Australia, Perth, Western Australia.

1994

Akkari, P.A., Eyre, H.J., Wilton, S.D., Callen, D.F., Lane, S.A., Meredith, C., Kedes, L. and Laing, N.G. (1994) Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation. Cytogenetics and Cell Genetics, 65 (4). pp. 265-267.

1993

Eyre, H.J., Akkari, P.A., Meredith, C., Wilton, S.D., Callen, D.C., Kedes, L. and Laing, N.G. (1993) Assignment of the human slow skeletal muscle troponin gene (TNNI1) to 1q32 by fluorescence in situ hybridisation. Cytogenetics and Cell Genetics, 62 (2-3). pp. 181-182.

1992

Laing, N.G., Majda, B.T., Akkari, P.A., Layton, M.G., Mulley, J.C., Phillips, H., Haan, E.A., White, S.J., Beggs, A.H., Kunkel, L.M., Groth, D.M., Boundy, K.L., Kneebone, C.S., Blumberg, P.C., Wilton, S.D., Speer, M.C. and Kakulas, B.A. (1992) Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. American Journal of Human Genetics, 50 (3). pp. 576-583.

1991

Laing, N., Majda, B.T., Akkari, A., Clayton, M., Mulley, J., Phillips, H., Haan, E., White, S., Beggs, A., Kunkel, L., Groth, D., Boundy, K., Kneebone, C., Blumbergs, P., Wilton, S., Speer, M. and Kakulas, B. (1991) Assignment of Nemaline Myopathy (Mim 161800, Nem1) to Chromosome-1. Cytogenetics and Cell Genetics, 58 (3-4). p. 1858.

This list was generated on Sat Aug 15 08:01:14 2020 UTC.