Centre for Neuromuscular & Neurological Disorders

Research Output 1979 2019

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Conference paper
2014

An analysis of the sensitivity and specificity of MHC-I and MHC-II immunohistochemical staining in muscle biopsies for the diagnosis of inflammatory myopathies

Rodriguez Cruz, PM., Yue-Bei, L., Miller, J., Junckerstorff, R., Fabian, V. & Mastaglia, F., 2014, 19th Congress of the World Muscle Society. United Kingdom: Elsevier, Vol. 24. p. 818

Research output: Chapter in Book/Conference paperConference paper

Clinical and genetic characterization of distal myopathies

Cabrera, M., Junckerstorff, R., Needham, M., Lamont, P. & Laing, N., 2014, 19th Congress of the World Muscle Society. United Kingdom: Elsevier, Vol. 24. p. 810

Research output: Chapter in Book/Conference paperConference paper

2008

Antisense oligomer design: Targeting and assay systems

Wilton, S., Mitrpant, C., Meloni, P., Adams, A. & Fletcher, S., 2008, NEUROMUSCULAR DISORDERS. Vol. 18. p. 756-756

Research output: Chapter in Book/Conference paperConference paper

Characterisation of a complex dystrophin mutation: Assume nothing when designing exon skipping strategies

Fletcher, S., Davis, MR., Madden, HR. & Wilton, S., 2008, NEUROMUSCULAR DISORDERS. Vol. 18. p. 757-757

Research output: Chapter in Book/Conference paperConference paper

HLA alleles and MHC haplotypes in sporadic inclusion body myositis: Frequencies and phenotypic correlations

Needham, M., Scott, A. P., Christiansen, F., James, I., Corbett, A., Day, T., Kiers, L., Laing, N., Allcock, R. & Mastaglia, F., 2008, 13th International Congress of the World Muscle Society. Newcastle, NSW ed. United Kingdom: Elsevier, Vol. 18. p. 770-771

Research output: Chapter in Book/Conference paperConference paper

Induced exon skipping in normal and mdx muscle

Fletcher, S., Steinhaus, JP., Mitrpant, C., Meloni, P. & Wilton, S., 2008, NEUROMUSCULAR DISORDERS. Vol. 18. p. 758-759

Research output: Chapter in Book/Conference paperConference paper

Splice manipulation therapies: Opportunities and challenges

Wilton, S. & Fletcher, S., 2008, NEUROMUSCULAR DISORDERS. Vol. 18. p. 831-831

Research output: Chapter in Book/Conference paperConference paper

2005

Dopamine Receptor D2 (DRD2) and COMT polymorphisms in Parkinson's Disease

Lee, V., Bolitho, E., Mastaglia, F. & Garlepp, M., 2005, New Trends in Alzheimer and Parkinson Related Disorders. Fisher, Hanin, A., Memo, I., Stocchi, M. & F. (eds.). Sorrento, Italy ed. Italy: Medimond S.R.L., Vol. 1. p. 197-201

Research output: Chapter in Book/Conference paperConference paper

Glutathione S-Transferase P1 (GSTP1) and Apolipoprotein E (APOE) Gene Polymorphisms in Parkisnon's Disease

Mastaglia, F., Bolitho, E., Van Bockxmeer, F. & Garlepp, M., 2005, New Trends in Alzheimer and Parkinson Related Disorders. Fisher, A., Hanin, I., Memo, M. & Stocchi, F. (eds.). Sorrento, Italy ed. Italy: Medimond S.R.L., Vol. 1. p. 191-195

Research output: Chapter in Book/Conference paperConference paper

2003

A possible role for the axon guidance molecule ephrin-A2 in activity-dependent refinement of regenerating central nerve connections

King, C., Fall, A., Quach, T., Bartlett, C., Rodger, J., Dunlop, S. & Beazley, L., 2003, 22nd Symposium of Western Australian Neuroscience. Fall, A., Madja, B. & Byrnes, M. (eds.). Nedlands, WA ed. Australia: Symposium of Western Australian Neuroscience, Vol. 1. p. 30

Research output: Chapter in Book/Conference paperConference paper

A possible role for the axon guidance molecule eprhin-A2 in activity-dependent refinement of regenerating central nerve connections

Quach, T., Fall, A., King, C., Bartlett, C., Rodger, J., Dunlop, S. & Beazley, L., 2003, Fourteenth Annual Combined Biological Sciences Meeting. Newberry, J. A., Quail, E. A. & Watson, M. (eds.). Scarborough, WA ed. Australia: BioMed Chem, Vol. 1. p. 38

Research output: Chapter in Book/Conference paperConference paper

The Axon Repulsive Molecule Ephrin-A2 Is Up-Regulated After Insertion Of A Peripheral Nerve Into The Rate Superior Colliculus

Symonds, A., Sauce, Y., Rodger, J., King, C., Bartlett, C., Fall, A., Dunlop, S., Lund, R. & Beazley, L., 2003, Fourteenth Annual Combined Biological Science Meeting. Newberry, J. A., Quail, E. A. & Watson, M. (eds.). Scarborough, WA ed. Australia: BioMed Chem, Vol. 1. p. 43

Research output: Chapter in Book/Conference paperConference paper

Up-regulation of the axon guidance molecule ephrin-A2 after insertion of a peripheral nerve into the rat superior colliculus

Symonds, A., Sauve, Y., Rodger, J., King, C., Bartlett, C., Fall, A., Dunlop, S., Lund, R. & Beazley, L., 2003, 22nd Symposium of Western Australian Neuroscience. Nedlands, WA ed. Australia: Symposium of Western Australian Neuroscience, Vol. 1. p. 27

Research output: Chapter in Book/Conference paperConference paper

2001
7 Citations (Scopus)

Cryptic splicing involving the splice site mutation in the canine model of Duchenne Muscular Dystrophy

Fletcher, S., Ly, T., Duff, R. M., Howell, J. M., Mann, C. J. & Wilton, S., 2001, 2nd Australasian Gene Therapy Society Meeting. Asano, S., Danos, O., Davies, K., Lehn, P. & Mulligan, R. (eds.). Sydney, Australia ed. Sussex, England: John Wiley & Sons, Vol. 3. p. xiii

Research output: Chapter in Book/Conference paperConference paper

Restoration of dystrophin expression in the mdx mouse using antisense oligonucleotides in a gene "knock-in" approach

Mann, C. J., Ly, T., Fletcher, S., Cheng, A. J., Lloyd, F., Morgan, J. & Partridge, T., 2001, 2nd Australasian Gene Therapy Society Meeting. Asano, S., Dans, O., Davies, K., Lehn, P. & Mulligan, R. (eds.). Sydney, Australia ed. Sussex, England: John Wiley & Sons, Vol. 3. p. vii-viii

Research output: Chapter in Book/Conference paperConference paper

1999
207 Citations (Scopus)

A Review of the Neuropathology of Human Spinal Cord Injury with Emphasis on Special Features

Kakulas, B., 1999, Spinal Cord Injury. Young, R. R. (ed.). Las Vagus USA ed. England: Stockton Press, Vol. 22. p. 119-124

Research output: Chapter in Book/Conference paperConference paper

Calpainopathy with unusual features

Kakulas, B., Saenz, A., Lasa, A., Cobo, A. M., De Diego, C., Richard, I., Jacob, R. & Laing, N., 1999, Neuromuscular Disorders. Dubowitz, V. (ed.). Antalya Turkey ed. Oxford England: Pergamon, Vol. 9. p. 499-500

Research output: Chapter in Book/Conference paperConference paper

Investigations of gene therapy for McArdle's disease using the sheep model

Howell, J. M., Pari, G., Davies, L., Fletcher, S., Wilton, S., Collins, T., Crerar, M. M., Nalbantoglu, J., Shoubridge, E., Jani, A., Tsujino, S., Shanske, S., Kakulas, B., Dimauro, S. & Karpati, G., 1999, 4th International Congress of the World Muscle Society. Dubowitz, V., Arahata, K., Engel, A. G., Hoffman, E. P., Merlini, L. & Tomè, F. M. S. (eds.). Antalya, Turkey ed. Oxford England: Elsevier, Vol. 9. p. 497

Research output: Chapter in Book/Conference paperConference paper

Posterior parietal cortex (PPC) may initiate goal-directed actions of the hand

Gardner, E. P., Debowy, D., Ro, J. Y. & Ghosh, S., 1999, 29th Annual Meeting. Swanson, L. W. (ed.). Miami Beach , Florida ed. Washington DC USA: Society of Neuroscience, Vol. 25. p. 2196

Research output: Chapter in Book/Conference paperConference paper

11 Citations (Scopus)

Problems and solutions in the rehabilitation of patients with progressive muscular dystrophy

Kakulas, B., 1999, Scandinavian Journal of Rehabilitation Medicine. Höök, O. (ed.). Uppsala ed. Toyen: Scandinavian University Press, Vol. Supplement 39. p. 23-37

Research output: Chapter in Book/Conference paperConference paper

Schwann Cell Remyelination in Human Spinal Cord Injury

Kakulas, B., Lorimer, R. L. & Tizard, B., 1999, VI European Congress of Neuropathology. Lowe, J. S., Weller, R. O., Hedley-Wehye, E. T., Franklin, R. J. M., Gray, F., Ironside, J. W., Love, S. & Moss, T. H. (eds.). Barcelona ed. Oxford England: Blackwell, Vol. 25. p. 29

Research output: Chapter in Book/Conference paperConference paper

4 Citations (Scopus)

The contribution of molecular genetics in the diagnosis and management of neuromuscular disorders

Kakulas, B., Laing, N. & Johnsen, R. D., 1999, Scandinavian Journal of Rehabilitation Medicine. Höök, O. (ed.). Uppsala ed. Toyen: Scandinavian University Press, Vol. 0. p. 5-22

Research output: Chapter in Book/Conference paperConference paper

1998

Analysis of the myelin protein zero (Po) in a large West Australian family with dominant, intermediate HMSN

Nowak, K. J., Stell, R., Mastaglia, F., Phillips, B., Fabian, V., Dorosz, S. M. & Laing, N., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide, Australia ed. New York: John Wiley & Sons, Vol. Suppl 7. p. S181

Research output: Chapter in Book/Conference paperConference paper

An unusual late-onset distal myopathy with rimmed vacuoles and mitochondrial paracrystalline inclusions

Phillips, B. A., Cala, L. A., Melsom, A. & Mastaglia, F., 1998, IX Internanational Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide, Australia ed. New York: John Wiley & Sons, Vol. Supp 7. p. S144

Research output: Chapter in Book/Conference paperConference paper

Differential patterns of muscle involvement in sporadic inclusion body myositis: MRI Studies

Phillips, B. A., Cala, L. A., Melsom, A. & Mastaglia, F., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide, Australia ed. New York: John Wiley & Sons, Vol. Suppl 7. p. S130

Research output: Chapter in Book/Conference paperConference paper

Excitability and topography of the corticomotor projection to the hand after cortical stroke

Higgins, S., Byrnes, M., Phillips, B., Thickbroom, G., Nagarajan, L. & Mastaglia, F., 1998, 43 Annual Meeting of the German Neurophysiological Society. Celesia, G. G. & Rossini, P. M. (eds.). Gottingen, Germany ed. Ireland: Elsevier, Vol. 107. p. 89P

Research output: Chapter in Book/Conference paperConference paper

Genetic predisposition to inclusion body myositis

Garlepp, M. J., Kok, C. C., Kiers, L., Askanas, V. & Mastaglia, F., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide, Australia ed. New York: John Wiley & Sons, Vol. Suppl 7. p. S42

Research output: Chapter in Book/Conference paperConference paper

Genetic studies in a family with autosomal dominant rod and core disease

Laing, N., Mastaglia, F., Fabian, V., Jacob, R., Davis, M. R., Wilton, S., Morling, P., Papadimitriou, J., Valentine, J. & Kakulas, B., 1998, 3rd International Congress of World Muscle Society. Dubowitz, V. (ed.). Naples, Italy ed. London: Pergamon, Vol. 8. p. 279

Research output: Chapter in Book/Conference paperConference paper

Golden Retriever Muscular Dystrophy and the development of gene therapy regimes for Duchenne Muscular Dystrophy

Howell, J. M., Fletcher, S., O'Hara, M., Collins, T., Kakulas, B., Karpati, G. & Lochmueller, H., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide SA ed. New York NY, USA: John Wiley & Sons, Vol. Supplement 7. p. S88

Research output: Chapter in Book/Conference paperConference paper

Inflammatory myopathies - patterns of muscle involvement and outcome after treatment

Mastaglia, F., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide, Australia ed. New York: John Wiley & Sons, Vol. Supp 7. p. S7

Research output: Chapter in Book/Conference paperConference paper

Mapping of the corticomotor representation using transcranial magnetic stimulaiton

Mastaglia, F. & Thickbroom, G., 1998, 43 Annual Meeting of the German Neurophysiological Society. Celesia, P. M. R. G. G. (ed.). Gottingen, Germany ed. Ireland: Elsevier, Vol. 107. p. 83P

Research output: Chapter in Book/Conference paperConference paper

Massive idiosyncratic exon loss corrects nonsense mutation in dystrophic mouse muscle and produces functional revertant fibres by clonal expansion

Lu, Q. L., Morris, G. E., Wilton, S., Strong, P. & Partridge, T., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide SA ed. New York NY, USA: John Wiley & Sons, Vol. Supplement 7. p. S192

Research output: Chapter in Book/Conference paperConference paper

Mutation analysis in nemaline myopathy

Beggs, A. H., Wattanasirichaigoon, D., Swoboda, K. J., Tong, H. Q., Pelin, K., Wallgren-Pettersson, C., Iannaccone, S. T., Akkari, A. & Laing, N., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide, SA ed. New York, NY, USA: John Wiley & Sons, Vol. Supplement 7. p. S80

Research output: Chapter in Book/Conference paperConference paper

Novel gamma-sarcoglycan missense mutation in sisters with muscular dystrophy

Nowak, K., Walsh, P., Jacob, R., Johnsen, R., Wilton, S., Kakulas, B. & Laing, N., 1998, 3rd International Congress of the World Muscle Society. Dubowitz, V. (ed.). Naples, Italy ed. Oxford, UK: Elsevier, Vol. 8. p. 277

Research output: Chapter in Book/Conference paperConference paper

Revertant fibres: dystrophin synthesis despite nonsense or prameshift mutations on the dystrophin gene

Wilton, S., Carville, K., Schatzberg, S., Honeyman, K., Lloyd, F. & Sharp, N., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide SA ed. New York NY, USA: John Wiley & Sons, Vol. Supplement 7. p. S46

Research output: Chapter in Book/Conference paperConference paper

Targeted dystrophin gene processing using antisense oligonucleotides

Wilton, S., Lloyd, F., Fletcher, S. & Kole, R., 1998, 3rd International Congress of the World Muscle Society. Dubowitz, V. (ed.). Naples, Italy ed. Oxford, UK: Elsevier, Vol. 8. p. 264

Research output: Chapter in Book/Conference paperConference paper

The molecular basis of German Short-Haired Pointer (GSHP) muscular dystrophy

Schatzberg, S., Olby, N., Steingold, S., Wilton, S., Dickens, H., Breen, M. & Sharp, N., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide SA ed. New York NY, USA: John Wiley & Sons, Vol. Supplement 7. p. S88

Research output: Chapter in Book/Conference paperConference paper

The seasonal occurrence of relapses in inflammatory myopathies in Western Australia

Phillips, B. A., Zilko, P. J., Garlepp, M. J. & Mastaglia, F., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide, Australia ed. New York: John Wiley & Sons, Vol. Supp 7. p. S148

Research output: Chapter in Book/Conference paperConference paper

The use of quantitative muscle strength assessment to determine outcome in patients with inflammatory myopathy

Phillips, B. A., Zilko, P. J. & Mastaglia, F., 1998, IX International Congress on Neuromuscular Diseases. Aminoff, M. J. (ed.). Adelaide, Australia ed. New York: John Wiley & Sons, Vol. Suppl 7. p. S148

Research output: Chapter in Book/Conference paperConference paper

1997

A Method for Neuronal Tracing in Human Spinal Cord Injuries

Stepien, E. F., Tizard, B. & Kakulas, B., 1997, XIII International Congress of Neuropathology. Wiley, C. (ed.). Perth ed. Pittsburgh PA USA: International Society of Neuropathology, Vol. 7, No 4, September. p. 1078

Research output: Chapter in Book/Conference paperConference paper

An interchromosomal duplication within the dystrophin gene

Wilton, S., Davis, M., Lim, L., Harker, N., Fabian, V., Goldblatt, J. & Laing, N., 1997, XIII International Congress of Neuropathology. Wiley, C. (ed.). Perth ed. Pittsburgh PA USA: International Society of Neuropathology, Vol. 7, No 4, September. p. 1118

Research output: Chapter in Book/Conference paperConference paper

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. & Mastaglia, F., 1997, XIII International Congress of Neuropathology. Wiley, C. (ed.). Perth ed. Pittsburgh, USA: International Society of Neuropathology, Vol. 7. p. 1222

Research output: Chapter in Book/Conference paperConference paper

ApoE genotyping of archival specimens by multiplex SSCP analysis

Wilton, S., Honeyman, K., Davis, M., Lim, L., Kelloway, L. & Fabian, V., 1997, XIII International Congress of Neuropathology. Wiley, C. (ed.). Perth ed. Pittsburgh PA USA: International Society of Neuropathology, Vol. 7, No 4, September. p. 1367

Research output: Chapter in Book/Conference paperConference paper

Artificially activated force measurements in malignant hyperthermia susceptible muscle fibres

Stewart, A. W., Johnsen, R., Perlman, B., Kakulas, B. & Dook, J., 1997, XIII International Congress of Neuropathology. Wiley, C. (ed.). Perth ed. Pittsburgh PA USA: International Society of Neuropathology, Vol. 7, No 4, September. p. 1121

Research output: Chapter in Book/Conference paperConference paper

41 Citations (Scopus)

A splice-site mutation causing ovine McArdle's disease

Tan, P., Allen, J. G., Wilton, S., Akkari, A., Huxtable, C. R. & Laing, N., 1997, Neuromuscular Disorders. Howell, J. M., Karpati, G. & Kakulas, B. A. (eds.). Perth, WA ed. Great Britain: Elsevier, Vol. 7, No 5, July. p. 336-342

Research output: Chapter in Book/Conference paperConference paper

Autosomal Dominant Distal Myopathy not Linked to Chromosome 14

Felice, K., Meredith, C., Binz, N., Butler, A., Akkari, A. & Laing, N., 1997, XIII International Congress of Neuropathology. Wiley, C. (ed.). Perth ed. Pittsburgh PA USA: International Society of Neuropathology, Vol. 7, No 4, September. p. 1372

Research output: Chapter in Book/Conference paperConference paper

B-amyloid protein containing inclusions in skeletal muscle of ApoE deficient mice

Robertson, T., Papadimitriou, J., Dutton, N., Martins, R., Roses, A. & Kakulas, B., 1997, XIII International Congress of Neuropathology. Wiley, C. (ed.). Perth ed. Pittsburgh PA USA: International Society of Neuropathology, Vol. 7, No 4, September. p. 1055

Research output: Chapter in Book/Conference paperConference paper

Changes in the excitability of the corticomotor projection to agonist and antagonist muscles prior to movement onset

Wilson, S. A., Thickbroom, G. & Mastaglia, F., 1997, 17th Annual Meeting of the Australian Neuroscience Society. Newcastle, Australia ed. Australia: Australian Neuroscience Society, Vol. 8. p. 174

Research output: Chapter in Book/Conference paperConference paper

Corticomotor representation of intrinsic hand muscles after sub-cortical stroke

Byrnes, M., Thickbroom, G., Phillips, B. A., Wilson, S. A. & Mastaglia, F., 1997, Annual Scientific Meeting of the Australian Association of Neurologists. Kaye, A. H. (ed.). Sydney ed. Edinburgh, UK: Churchill Livingstone, Vol. 4. p. 387

Research output: Chapter in Book/Conference paperConference paper

Corticomotor representation of upper limb muscles in writer's cramp and changes following botulinum toxic injection

Byrnes, M., Thickbroom, G., Wilson, S. A., Stell, R. & Mastaglia, F., 1997, Annual Scientific Meeting of the Australian Association of Neurologists. Kaye, A. H. (ed.). Sydney ed. Edinburgh, UK: Churchill Livingstone, Vol. 4. p. 287

Research output: Chapter in Book/Conference paperConference paper