Centre for Neuromuscular & Neurological Disorders

Research Output 1979 2019

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2007

Androgen regulation of NKX3.1 gene expression by the 3'UTR in prostate cancer cells

Thomas, M. A., Preece, D. & Bentel, J., 2007, Abstract in Cancer Council of WA Second Cancer Research Symposium, 2007, Perth. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Localisation of Positive Transcriptional Activity within the NKX3.1 5' Promoter

Preece, D., Harvey, J., Bentel, J. & Thomas, M., 2007, Proceedings of Australian Society for Medical Research Medical Research Week Symposium, 7 June 2007, Perth. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Regulatory Studies of the Homeobox Gene NKX3.1 in Prostate Cancer Cells

Preece, D., Harvey, J., Bentel, J. & Thomas, M., 2007, Conference proceedings of 17th Annual Combined Biological Sciences Meeting, 17 August 2007, Perth. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Transcriptional Studies of the Human Homeobox Gene NKX3.1 in Prostate Cancer Cells

Preece, D., Harvey, J., Bentel, J. & Thomas, M., 2007, Abstract in Combio Conference 2007, 22-26 September 2007, Sydney. Sydney

Research output: Chapter in Book/Conference paperOther chapter contribution

"Unlocked": Basilar Thrombosis Successfully Treated by Combination Thrombolytic and Stenting Many Hours After Symptom Onset

Blacker, D. & Kelly, A., 2007, Internal Medicine Journal. Australia

Research output: Chapter in Book/Conference paperOther chapter contribution

1998

Alternate Pax7 alleles are associated with differences in the ability to regenerate damaged skeletal muscle

Ziman, M., Harmon, D., Fletcher, S., Robertson, T., Papadimitriou, J. & Kay, P., 1998, Proceedings of the Keystone Symposia on Molecular and Cellular Biology, Colorado, April 4-9, 1998. Hager, G. (ed.). Colorado, USA

Research output: Chapter in Book/Conference paperOther chapter contribution

1997

An investigation of mitochondrial DNA point mutation in inclusion body myositis and Alzheimer's Disease

Kok, C. C., Martins, R., Askanas, V., Dalakas, M. C., Kakulas, B., Mastaglia, F. L. & Garlepp, M. J., 1997, 8th Annual Combined Biological Sciences Meeting, Perth, 1997. Watson, M. W., Quail, E. A. & Lawson, C. M. (eds.). Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Apolipoprotein-E genotype and Alzheimer's disease in a post mortem series

Fabian, V. A., Jones, T. M., Wilton, S., Dench, J. E., Davis, M. R. & Kakulas, B., 1997, Human Genetics: Diversity and Disease, Monday July 21 to Friday July 25 1997. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Autosomal dominant distal myopathy not linked to chromosomes 14 or 2

Felice, K., Meredith, C., Binz, N., Butler, A., Akkari, A. & Laing, N., 1997, Human Genetics: Diversity and Disease, Monday July 21 to Friday July 25 1997. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Counselling for the malignant hyperthemia syndrome

Hughes, J. E., Perlman, D., Peacock, J., Johnsen, R. D., Fabian, V. A., Davis, M. R. & Kakulas, B., 1997, Human Genetics: Diversity and Disease, Monday July 21 to Friday July 25 1997. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Homozygous alpha-tropomyosin (TMP3) nonsense mutation in fatal congenital nemaline myopathy

Tan, P., Briner, J., Boltshauser, E., Davis, M. R., Wilton, S., Wallgren-Pettersson, C. & Laing, N., 1997, Human Genetics: Diversity and Disease, Monday July 21 to Friday July 25 1997. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Mutation detection in the polycystic kidney disease (PKD1) gene

Mccluskey, M., Wilton, S., Dworniczak, B., Schiavello, T., Thomas, M., Bittles, A. H. & Kaladjieva, L., 1997, Human Genetics: Diversity and Disease, Monday July 21 to Friday July 25 1997. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Sequence of full-length dystrophin CDNA and several revertant fibres from muscles of golden retriever dogs

Carville, K., Mann, S., Schatzberg, S., Sharp, N., Howell, J. MC. & Wilton, S., 1997, 8th Annual Combined Biological Sciences Meeting, Perth, 1997. Watson, M. W., Quail, E. A. & Lawson, C. M. (eds.). Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

The sarcoglycanopathies. Molecular diagnosis and clinical significance

Kakulas, B., 1997, 3rd Meeting of The Mediterranean Society of Myology. The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, 1. Nicosia, Cyprus

Research output: Chapter in Book/Conference paperOther chapter contribution

1996

A limb girdle syndrome with unique features

Lai, N., Harker, N. A., Dasig, D., Fabian, V. A. & Kakulas, B., 1996, 1996 Annual scientific meeting of the Australian Association of Neurologists & satellite meeting of the Movement Disorde. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with fatal, congenital, nemaline myopathy with intranuclear rods

Tan, P., Briner, J., Boltshauser, E., Davis, M. R., Wilton, S., Wallgren-Pettersson, C. & Laing, N., 1996, 7th Annual Combined Biological Sciences Meeting Perth, 1996. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Molecular diagnosis of inherited myopathies

Kakulas, B., Harker, N. A., Laing, N., Johnsen, R. D. & Silberstein, E. P., 1996, 9th Asian Oceanian Congress of Neurology Abstract. Seoul Korea

Research output: Chapter in Book/Conference paperOther chapter contribution

Ovine models of McArdle's disease and muscular dystrophy

Laing, N., Tan, P., Wilton, S., Akkari, P. A., Johnsen, R. D., Sharp, M., Allen, J. & Huxtable, C., 1996, Gene Therapy Workshop. 30-31 May 1996. Australian Neuromuscular Research Institute. Perth, Western Australia. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Potential for gene therapy in Duchenne muscular dystrophy

Kakulas, B., 1996, Gene Therapy Workshop. 30-31 May 1996. Australian Neuromuscular Research Institute. Perth, Western Australia. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Revertant fibres: a possible genetic therapy for DMD

Wilton, S., Dye, D., Blechynden, L. & Laing, N., 1996, Cambridge Symposia. Molecular Genetic Approaches to the Treatment of Genetic Disease. Abstract Volume 4, 1996. Octobe. Nevada, USA

Research output: Chapter in Book/Conference paperOther chapter contribution

Revertant Fibres: A possible genetic therapy for Duchenne muscular dystrophy

Wilton, S., Dye, D., Blechynden, L. & Laing, N., 1996, Gene Therapy Workshop. 30-31 May 1996. Australian Neuromuscular Research Institute. Perth, Western Australia. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

The clinical neuropathology of human spinal cord injury with reference to early changes

Kakulas, B., Stepien, E. F., Gubbay, A. D., Lorimer, R. L. & Tizard, B., 1996, Australian Spinal Research Trust. "Frontiers of spinal cord research" at The Walter and Eliza Hall Institute of Medical. Melbourne

Research output: Chapter in Book/Conference paperOther chapter contribution

Use of the dog model for Duchenne muscular dystrophy in gene therapy trials

Howell, J. MCC., Fletcher, S., Kakulas, B., O'Hara, M. & Karpati, G., 1996, Gene Therapy Workshop. 30-31 May 1996. Australian Neuromuscular Research Institute, Perth, Western Australia. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

Use of the GRMD model to study gene and genetic therapies for muscular dystrophy

Mann, C. J., Fletcher, S., Wilton, S. & Howell, J. MCC., 1996, 7th Annual Combined Biological Sciences Meeting Perth, 1996. Perth

Research output: Chapter in Book/Conference paperOther chapter contribution

1995

Acute injuries to Dorsal Root Ganglia

Taylor, J. R. & Kakulas, B., 1995, Combined Meeting of Spine Society of Australia and Neurosurgical Society of Australasia. Perth: Organising Committee, Spine Society of Australia and Neurosurgical Society of Australasia, p. 33

Research output: Chapter in Book/Conference paperOther chapter contribution

A method for neuronal tracing in human SCI

Stepien, E., Tizard, B. & Kakulas, B., 1995, Sixteenth Annual Neuroscience Colloquium of Western Australia. Perth: Organising Committee, Sixteenth Annual Neuroscience Colloquium of Western Australia, p. 25

Research output: Chapter in Book/Conference paperOther chapter contribution

An actin-binding site mutation in tropomyosin 3 causing autosomal dominant nemaline myopathy

Wilton, S., Akkari, A., Dorosz, S., Boundy, K., Kneebone, C., Blumberg, P., White, S., Watkins, H., Love, N. & Love, D., 1995, 17th Annual Conference on The Organisation and Expression of the Genome. Lorne Victoria: Organising Committee, 17th Annual Conference on The Organisation and Expression of the Genome, p. Symposium 10.3-Symposium 10.3

Research output: Chapter in Book/Conference paperOther chapter contribution

A splice-site mutation causes ovine McArdle's disease

Tan, P., Wilton, S., Akkari, A., Sharp, M., Allen, J., Huxtable, C. & Laing, N., 1995, Sixteenth Annual Neuroscience Colloquium of Western Australia. Perth: Organising Committee, Sixteenth Annual Neuroscience Colloquium of Western Australia, p. 5

Research output: Chapter in Book/Conference paperOther chapter contribution

Autosomal dominant nemaline myopathy - positional cloning to a mutation in tropomyosin 3

Wilton, S., Akkari, A., Dorosz, S., Boundy, K., Kneebone, C., Blumberg, P., White, S., Watkins, H., Love, D. & Laing, N., 1995, The Fifth Annual Queenstown Molecular Biology Meeting. Queenstown New Zealand: Scientific Committee, The Fifth Annual Queenstown Molecular Biology Meeting, p. 29

Research output: Chapter in Book/Conference paperOther chapter contribution

Expression of the 50 KD dystrophin associated glycoprotein (adhalin) in normal and dystrophic human muscle

Johnsen, R. D., Laing, N., Silberstein, E. P. & Kakulas, B., 1995, Sixteenth Annual Neuroscience Colloquium of Western Australia. Perth: Organising Committee, Sixteenth Annual Neuroscience Colloquium of Western Australia, p. 22

Research output: Chapter in Book/Conference paperOther chapter contribution

Frameshift mutation in ovine muscular disease

Tan, P., Wilton, S., Akkari, A., Sharp, M., Allen, J., Laing, N. & Huxtable, C., 1995, Combined Biological Sciences Meeting. Perth: Australian and New Zealand Society for Cell Biology, p. P24

Research output: Chapter in Book/Conference paperOther chapter contribution

Genetic analysis of spinal muscular atrophy families using linkage and direct mutation detection

Harker, N. A., Laing, N. & Kakulas, B., 1995, Sixteenth Annual Neuroscience Colloquium of Western Australia. Perth: Organising Committee, Sixteenth Annual Neuroscience Colloquium of Western Australia, p. 11

Research output: Chapter in Book/Conference paperOther chapter contribution

Herpes zoster brachial plexus neuritis: a neuropathological case study

Fabian, V. A., Wood, B., Crowley, P., Taran, J. & Kakulas, B., 1995, Sixteenth Annual Neuroscience Colloquium of Western Australia. Perth: Organising Committee, Sixteenth Annual Neuroscience Colloquium of Western Australia, p. 18

Research output: Chapter in Book/Conference paperOther chapter contribution

Late onset Kennedy's disease - very mild clinical features associated with an intermediate sized androgen receptor CAG trinucleotide repeat expansion

Davis, M. R., Stell, R., Laing, N. & Kakulas, B., 1995, Sixteenth Annual Neuroscience Colloquium of Western Australia. Perth: Organising Committee, Sixteenth Annual Neuroscience Colloquium of Western Australia, p. 16

Research output: Chapter in Book/Conference paperOther chapter contribution

Localization of the tropomyosin genes

Akkari, A., Wilton, S., Dorosz, S., Callen, D., Eyre, H., Baker, L., Lim, L., Hunt, C. & Laing, N., 1995, 17th Annual Conference on The Organisation and Expression of the Genome. Lorne Victoria: Organising Committee, 17th Annual Conference on The Organisation and Expression of the Genome, p. Poster1.1-Poster1.1

Research output: Chapter in Book/Conference paperOther chapter contribution

Rapid identification of Apo E alleles by multiplex SSCP analysis

Wilton, S., Lim, L. & Kelloway, L., 1995, Combined Biological Sciences Meeting. Perth: Australian and New Zealand Society for Cell Biology, p. P72

Research output: Chapter in Book/Conference paperOther chapter contribution

Revertant fibres: a genetic therapy for duchenne muscular dystrophy?

Wilton, S., Laing, N. & Dye, D., 1995, Combined Biological Sciences Meeting. Perth: Australian and New Zealand Society for Cell Biology, p. P61

Research output: Chapter in Book/Conference paperOther chapter contribution

"Snap-back" SSCP: specific introduction of conformational changes for mutation detection

Fletcher, S., Lim, L., Dye, D. & Wilton, S., 1995, Combined Biological Sciences Meeting. Perth: Australian and New Zealand Society for Cell Biology, p. P62

Research output: Chapter in Book/Conference paperOther chapter contribution

Superoxide dismutase (SOD1) mutations in amyotrophic lateral sclerosis (ALS)

Dench, J., Wilton, S., Yeung, L., Nicholson, G., Kakulas, B. & Laing, N., 1995, Sixteenth Annual Neuroscience Colloquium of Western Australia. Perth: Organising Committee, Sixteenth Annual Neuroscience Colloquium of Western Australia, p. 17

Research output: Chapter in Book/Conference paperOther chapter contribution