Neuromuscular and Neurological Disorders, Centre for

Books and Chapters

Mastaglia, F.L., Phillips, B.A. and Zilko, P.J. Inflammatory Myopathies, Neurological Therapeutics: Principles and Practice, ed Noseworthy, J.H., UK, Martin Dunitz Ltd, pp 2328-2341 (2003)

Journal Articles

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

Aksoy, H., Dean, G., Elian, M., Deng, H.X., Deng, G., Juneja, T., Storey, E., McKinlay Gardner, R.J., Jacob, R.L., Laing, N.G. and Siddique, T. A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis, Neuroepidemiology, 22: pp 235-238 (2003)

Cala, L.A., Parker, K., Emelyanova, I., Hicks, N., Robbins, P., Attikiouzel, Y., Michalak, K., Devenish, J., Kosek, J. and Mastaglia, F.L. Computer-Assisted Diagnosis of Cranial CT Scans, Rivista di Neuroradiologia, 16: pp 947-952 (2003)

Davis, M.R., Haan, E., Jungbluth, H., Sewry, C., North, K., Muntoni, F., Kuntzer, T., Lamont, P., Bankier, A., Tomlinson, P., S¨¤nchez, A., Walsh, P., Nagarajan, L., Oley, C., Colley, A., Gedeon, A., Quinlivan, R., Dixon, J., James, D., M¨¹ller, C.R. and Laing, N.G. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene, Neuromuscular Disorders, 13: pp 151-157 (2003)

Errington, S.J., Mann, C.J., Fletcher, S. and Wilton, S.D. Target selection for antisense oligonucleotide induced exon skipping in the dystrophin gene, The Journal of Gene Medicine, 5: pp 518-527 (2003)

Gebski, B.L., Mann, C.J., Fletcher, S. and Wilton, S.D. Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle, Human Molecular Genetics, 12:15, pp 1801-1811 (2003)

Gommans, I.M.P., Davis, M., Saar, K., Lammens, M., Mastaglia, F., Lamont, P., van Duijnhoven, G., ter Laak, H.J., Reis, a., Vogels, O.J.M., Laing, N., van Engelen, B.G.M. and Kremer, H. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions, Brain, 126: pp 1545-1551 (2003)

Li, Y.J., Oliveira, S.A., Xu, P., Martin, E.R., Stenger, J.E., Scherzer, C.R., Hauser, M.A., Scott, W.K., Small, G.W., Nance, M.A., Watts, R.L., Hubble, J.P., Koller, W.C., Pahwa, R., Stern, M.B., Hiner, B.C., Jankovic, J., Goetz, C.G., Mastaglia, F., Middleton, L.T., Roses, A.D., Saunders, A.M., Schmechel, D.E., Gullans, S.R., Haines, J.L., Gilbert, J.R., Vance, J.M. and Pericak-Vance, M.A. Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease, Human Molecular Genetics, 12: pp 3259-3267 (2003)

Lu, Q.L., Mann, C.J., Lou, F., Bou-Gharios, G., Morris, G.E., Xue, S-a., Fletcher, S., Partridge, T.A. and Wilton, S.D. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse, Nature Medicine, 9: pp 1009-1014 (2003)

Mastaglia, F.L., Byrnes, M.L., Johnsen, R.D. and Kakulas, B.A. Prevalence of cerebral vascular amyloid-¦Â deposition and stroke in an aging Australian popoulation: a postmortem study, Journal of Clinical Neuroscience, 10:2, pp 186-189 (2003)

Mastaglia, F.L. and Zilko, P.J. Inflammatory myopathies: how to treat the difficult cases, Journal of Clinical Neuroscience, 10:1, pp 99-101 (2003)

Mastaglia, F.L., Johnsen, R.D., Byrnes, M.L. and Kakulas, B.A. Prevalence of Amyloid-¦Â Deposition in the Cerebral Cortex in Parkinson's Disease, Movement Disorders, 18:1, pp 81-86 (2003)

Munns, S.E., Meloni, B.P., Knuckey, N.W. and Arthur, P.G. Primary cortical neuronal cultures reduce cellular energy utilization during anoxic energy deprivation, Journal of Neurochemistry, 87: pp 764-772 (2003)

O'Leary, C.A., Atwell, R.B. and Laing, N.G. No disease-associated mutations found in the coding sequence of the canine polycystic kidney disease gene 1 in Bull Terriers with polycystic kidney disease, Animal Genetics, 34: pp 358-361 (2003)

Oliveira, S.A., Scott, W.K., Martin, E.R., Nance, M.A., Watts, R.L., Hubble, J.P., Koller, W.C., Pahwa, R., Stern, M.B., Hiner, B.C., Ondo, W.G., Allen, J.H., Scott, B.L., Goetz, C.G., Small, G.W., Mastaglia, F., Stajich, J.M., Zhang, F., Booze, M.W., Winn, M.P., Middleton, L.T., Haines, J.L., Pericak-Vance, M.A. and Vance, J.M. Parkin Mutations and Susceptibility Alleles in Late-Onset Parkinson's Disease, Annals of Neurology, 53: pp 624-629 (2003)

Oliveira, S.A., Scott, W.K., Nance, M.A., Watts, R.L., Hubble, J.P., Koller, W.C., Lyons, K.E., Pahwa, R., Stern, M.B., Hiner, B.C., Jankovic, J., Ondo, W.G., Allen, F.H., Scott, B.L., Goetz, C.G., Small, G.W., Mastaglia, F., Stajich, J.M., Zhang, F., Booze, M.W., Reaves, J.A., Middleton, L.T., Haines, J.L., Pericak-Vance, M.A., Vance, J.M. and Martin, E.R. Association Study of Parkin GEne Polymorphisms With Idiopathic Parkinson Disease, Archives of Neurology, 60: pp 975-980 (2003)

Perl, D.P., Hof, P.R., Purohit, P., Loerzel, A.J. and Kakulas, B.A. Hippocampal and Entorhinal Cortex Neurofibrillary Tangle Formation in Guamanian Chamorros Free of Overt Neurologic Dysfunction, Journal of Neuropathology and Experimental Neurology, 62:4, pp 381-388 (2003)

Phan, T.C.A., Nowak, K.J., Akkari, P.A., Zheng, M.H. and Xu, J. Expression of caltrin in the baculovirus system and its purification in high yield and purity by cobalt (II) affinity chromatography, Protein Expression and Purification, 29: pp 284-290 (2003)

Quinlivan, R.M., Muller, C.R., Davis, M., Laing, N.G., Evans, G.A., Dwyer, J., Dove, J., Roberts, A.P. and Sewry, C.A. Central core disease: clinical, pathological, and genetic features, Archives of Disease in Childhood, 88: pp 1051-1055 (2003)

Ryan, M.M., Ilkovski, B., Strickland, C.D., Schnell, C., Sanoudou, D., Midgett, C., Houston, R., Muirhead, D., Dennett, X., Shield, L.K., De Girolami, U., Iannaccone, S.T., Laing, N.G., North, K.N. and Beggs, A.H. Clinical course correlates poorly with muscle pathology in nemaline myopathy, Neurology, 60: pp 665-673 (2003)

Schmitt, A.B., Breuer, S., Polar, L., Pech, K., Kakulas, B.A., Love, S., Martin, D., Schoenen, J., Noth, J. and Brook, G.A. Retrograde Reactions of Clarke's Nucleus Neurons after Human Spinal Cord Injury, Annals of Neurology, 54: pp 534-539 (2003)

Sparrow, J.C., Nowak, K.J., Durling, H.J., Beggs, A.H., Wallgren-Pettersson, C., Romero, N., Nonaka, I. and Laing, N.G. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1), Neuromuscular Disorders, 13: pp 519-531 (2003)

Thickbroom, G.W., Byrnes, M.L. and Mastaglia, F.L. Dual representation of the hand in the cerebellum: activation with voluntary and passive finger movement, NeuroImage, 18: pp 670-674 (2003)

Thickbroom, G.W., Byrnes, M.L., Blacker, D.J., Morris, I.T. and Mastaglia, F.L. A functional MRI protocol for localizing language comprehension in the human brain, Brain Research Protocols, 10: pp 175-180 (2003)

Thickbroom, G.W., Byrnes, M.L., Stell, R. and Mastaglia, F.L. Reversible Reorganisation of the Motor Cortical Representation of the Hand in Cervical Dystonia, Movement Disorders, 18:4, pp 395-402 (2003)

van der Walt, J.M., Nicodemus, K.K., Martin, E.R., Scott, W.K., Nance, M.A., Watts, R.L., Hubble, J.P., Haines, J.L., Koller, W.C., Lyons, K., Pahwa, R., Stern, M.B., Colcher, A., Hiner, B.C., Jankovic, J., Ondo, W.G., Allen, F.H., Goetz, C.G., Small, G.W., Mastaglia, F., Stajich, J.M., McLaurin, A.C., Middleton, L.T., Scott, B.L., Schmechel, D.E., Pericak-Vance, M.A. and Vance, J.M. Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease, American Journal of Human Genetics, 72: pp 804-811 (2003)

van der Walt, J.M., Martin, E.R., Scott, W.K., Zhang, F., Nance, M.A., Watts, R.L., Hubble, J.P., Haines, J.L., Koller, W.C., Lyons, K., Pahwa, R., Stern, M.B., Colcher, A., Hiner, B.C., Jankovic, J., Ondo, W.G., Allen, F.H., Goetz, C.G., Small, G.W., Mastaglia, F., Roses, a.D., Stajich, J.M., Booze, M.W., Fujiwara, K., Gibson, R.A., Middleton, L.T., Scott, B.L., Pericak-Vance, M.A. and Vance, J.M. Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease, Neurology, 60: pp 1189-1191 (2003)

Wallgren-Pettersson, C. and Laing, N.G. 109th ENMC International Workshop: 5th Workshop on nemaline myopathy, Neuromuscular Disorders, 13: pp 501-507 (2003)

Weaving, L.S., Williamson, S.L., Bennetts, B., Davis, M., Ellaway, C.J., Leonard, H., Thong, M.K., Delatycki, M., Thompson, E.M., Laing, N. and Christodoulou, J. Effects of MECP2 Mutation Type, Location and X-inactivation in Modulating Rett Syndrome Phenotype, American Journal of Medical Genetics, 118A: pp 103-114 (2003)

Wells, K.E., Fletcher, S., Mann, C.J., Wilton, S.D. and Wells, D.J. Enhanced in vivo delivery of antisense oligonucleotides to restore dystrophin expression in adult mdx mouse muscle, FEBS Letters, 552: pp 145-149 (2003)

Others

Mastaglia, F.L., Garlepp, M.J., Phillips, B.A. and Zilko, P.J. (Review)Inflammatory myopathies: clinical, diagnostic and therapeutic aspects, Muscle & Nerve, 27: pp 407-425, United States (2003)