Neuromuscular and Neurological Disorders, Centre for

Buxmann, H., Schlosser, R., Schlote, W., Sewell, A., Nowak, K.J., Laing, N.G. and Loewenich, V.v. Congenital Nemaline Myopathy due to ACTA1-Gene Mutation and Carnitine Insufficiency: A Case report, Neuropediatrics, 32: pp 267-270 (2001)

Byrnes, M.L., Thickbroom, G.W., Phillips, B.A. and Mastaglia, F.L. Long-term changes in motor cortical organisation after recovery from subcortical stroke, Brain research, 889: pp 278-287 (2001)

Debowy, D.J., Ghosh, S., Ro, J.Y. and Gardner, E.P. Comparison of neuronal firing rates in somatosensory and posterior parietal cortex during prehension, Experimental Brain Research, 137: pp 269-291 (2001)

Fletcher, S., Carville, K.S., Mann, C.J., Wilton, S.D. and Howell, J.M. Evaluation of a short interspersed nucleotide element in the 3 untranslated region of the defective dystrophin gene of dogs with muscular dystrophy, American Journal of veterinary research, 62: pp 1964-1968 (2001)

Fletcher, S., Ly, T., Duff, R.M., Howell, J.M. and Wilton, S.D. Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy, Neuromuscular Disorders, 11: pp 239-243 (2001)

Ilkovski, B., Cooper, S.T., Nowak, K., Ryan, M.M., Yang, N., Schnell, C., Durling, H.J., Roddick, L.G., Wilkinson, I., Kornberg, A.J., Collins, K.J., Wallace, G., Gunning, P., Hardeman, E.C., Laing, N.G. and North, K.N. Nemaline Myopathy caused by mutations in the muscle a-skeletal-Actin gene, American Journal of Human Genetics, 68: pp 1333-1343 (2001)

Jungbluth, H., Sewry, C.A., Brown, S.C., Nowak, K.J., Laing, N.G., Wallgren-Pettersson, C., Pelin, K., Manzur, A.Y., Mercuri, E., Dubowitz, V. and Muntoni, F. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle a-actin (ACTA-1) gene, Neuromuscular Disorders, 11: pp 35-40 (2001)

Kelberman, D., Tyson, J., McInerney, A.M., Slee, J., Albert, D., Aymat, A., Botma, M., Calvert, M., Goldblatt, J., Haan, E.A., Laing, N.G., Lim, J., Malcolm, S., Singer, S.L., Winter, R.M., Bitner-Glindziez, M. and Chandler, D.C. Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome, Human Genetics, 109: pp 638-645 (2001)

Laing, N.G. Genes and brains, molecular medicine and neuropathology, Trends in molecular medicine, 7: pp 6-7 (2001)

Loh, N.K., Woerly, S., Bunt, S.M., Wilton, S.D. and Harvey, A.R. The regrowth of axons within tissue defects in the CNS is promoted by implanted hydrogel matrices that contain BDNF and CNTF producing fibroblasts, Experimental Neurology, 170: pp 72-84 (2001)

Majda, B.T., Meloni, B.P., Rixon, N. and Knuckey, N.W. Suppression subtraction hybridization and northern analysis reveal upregulation of heat shock, trkB, and sodium calcium exchanger genes following global cerebral ischemia in the rat, Molecular Brain Research, 93: pp 173-179 (2001)

Mann, C.J., Honeyman, K., Cheng, A.J., Ly, T., Lloyd, F., Fletcher, S., Morgan, J.E., Partridge, T.A. and Wilton, S.D. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse, Proceedings of the national academy of sciences of the United States of America, 98:1, pp 42-47 (2001)

Martin, E.R., Scott, W.K., Nance, M.A., Watts, R.L., Hubble, J.P., Koller, W.C., Lyons, K., Pahwa, R., Stern, M.B., Colcher, A., Jankovic, J., Ondo, W.G., Allen, F.H., Goetz, C.G., Small, G.W., Masterman, D., Mastaglia, F., Laing, N.G., Stajich, J.M., Ribble, R.C., Booze, M.W., Rogala, A., Hauser, M.A., Zhang, F., Gibson, R.A., Middleton, L.T., Roses, A.D., Haines, J.L., Scott, B.L., Pericak-Vance, M.A., Vance, J.M. and Hinerm, B.C. Association of single-nucleotide polymorphisms of the Tau gene with late-onset Parkinson Disease, JAMA - Journal of the American Medical Association, 286: pp 2245-2249 (2001)

Mastaglia, F.L., Thickbroom, G.W., Day, T. and Bond, R. Craniocervical tetanus presenting with dysphagia: Diagnostic value of elecrophysiological studies, Journal of Neurology, 248: pp 903-904 (2001)

Meloni B.P., Majda, B.T. and Knuckey, N.W. Establishment of neuronal in vitro models of ischemia in 96-well microtiter strip-plates that result in acute, progressive and delayed neuronal death, Neuroscience, 108:1, pp 17-26 (2001)

Miles, A.N., Majda, B.T., Meloni, B.P. and Knuckey, N.W. Postischemic intravenous administration of magnesium sulfate inhibits hippocampal CA1 neurnal death after transient global ischemia in rats, Neurosurgery, 49:6, pp 1443-1451 (2001)

Nurnberg, P., Thiele, H., Chandler, D., Hohne, W., Cunningham, M.L., Ritter, H., Leschik, G., Uhlmann, K., Mischung, C., Harrop, K., Goldblatt, J., Borochowitz, Z.U., Kotzot, D., Westermann, F., Mundlos, S., Braun, H-S., Laing, N.G. and Tinschert, S. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia, Nature Genetics, 28: pp 37-41 (2001)

O'Hara, A.J., Taplin, R.H., Fletcher, S., Lloyd, F., Kakulas, B., Lochmuller, H., Karpati, G. and Howell, J.M. The spread of transgene expression at the site of gene construct injection, Muscle and Nerve, 24: pp 488-495 (2001)

Panegyres, P.K., Toufexis, K., Kakulas, B.A., Cernevakova, L., Brown, P., Ghetti, B., Piccardo, P. and Dlouhy, S.R. A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease, Archive of Neurology, 58: pp 1899-1902 (2001)

Phillips, B.A., Cala, L.A., Thickbroom, G.W., Melsom, A., Zilko, P.J. and Mastaglia, F.L. Patterns of muscle involvement in inclusion body myositis: clinical and magnetic resonance imaging study, Muscle and Nerve, 24: pp 1526-1534 (2001)

Ryan, M.M., Schnell, C., Strickland, C.D., Shield, L.K., Morgan, G., Iannoccone, S.T., Laing, N.G., Beggs, A.H. and North, K.N. Nemaline Myopathy: A Clinical study of 143 cases, Annals of Neurology, 50: pp 312-320 (2001)

Scott, W.K., Nance, M.A., Watts, R.L., Hubble, J.P., Koller, W.C., Lyons, K., Pahwa, R., Colcher, A., Hiner, B.C., Jankovic, J., Ondo, W.G., Allen, F.H., Goetz, C.G., Small, G.W., Masterman, D., Mastaglia, F., Laing, N.G., Stajich, J.M., Slotterbeck, B., Booze, M.W., Ribble, R.C., Rampersaud, E., West, S.G., Gibson, R.A., Middleton, L.T., Roses, A.D., Haines, J.L., Scott, B.L., Vace, J.M., Pericak-Vance, M.A. and Stern, M.B. Complete genomic screne in Parkinson Disease - Evidence for Multiple Genes, JAMA - Journal of the American Medical Association, 286: pp 2239-2244 (2001)

Thickbroom, G.W., Byrnes, M.L., Archer, S.A., Nagarajan, L. and Mastaglia, F.L. Differences in sensory and motor cortical organization following brain injury early in life, Annals of Neurology, 49: pp 320-327 (2001)

Thirion, C., Stucka, R., Mendel, B., Gruhler, A., Jaksch, M., Nowak, K.J., Binz, N., Laing, N.G. and Lochmuller, H. Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle, European Journal of Biochemistry, 268: pp 3473-3482 (2001)

Tinschert, S., Lohan, K., Harrop, K., Goldblatt, J., Nagy, M., Hummel, S., Braun, H.S., Laing, N., Nurnberg, P. and Chandler, D. Refinement of the chromosome 5p locus for craniometaphyseal dysplasia, Human Genetics, 108: pp 394-397 (2001)

Wallgren-Pettersson, C. and Laing, N.G. Report of the 83rd EMNC international workshop: 4th workshop on nemaline myopathy, 22 - 24 September 2000, Naarden, The Netherlands, Neuromuscular Disorders, 11: pp 589-595 (2001)

Ward, B.K., Kumar, P., Turbett, G.R., Edmondston, J.E., Papadimitriou, J.M., Laing, N.G., Ingram, D.M., Minchin, R.F. and Ratajczak, T. Allelic loss of cyclophilin 40, an estrogen receptor-associated immunophilin, in breast carcinomas, Journal of cancer research and Clinical Oncology, 127: pp 109-115 (2001)

Conference Publications

Fletcher, S., Ly, T., Duff, R.M., Howell, J.M., Mann, C.J. and Wilton, S.D. Cryptic splicing involving the splice site mutation in the canine model of Duchenne Muscular Dystrophy, 2nd Australasian Gene Therapy Society Meeting, Sussex, England, John Wiley & Sons Ltd, 3: p xiii (2001)

Mann, C.J., Ly, T., Fletcher, S., Cheng, A.J., Lloyd, F.P., Morgan, J. and Partridge, T. Restoration of dystrophin expression in the mdx mouse using antisense oligonucleotides in a gene "knock-in" approach, 2nd Australasian Gene Therapy Society Meeting, Sussex, England, John Wiley & Sons Ltd, 3: pp vii-viii (2001)