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Results: 1-21 |
Results: 21

Authors: Dubowitz, V
Citation: V. Dubowitz, Message from the president of WMS, NEUROMUSC D, 11(6-7), 2001, pp. 599-599

Authors: Philpot, J Counsell, S Bydder, G Sewry, CA Dubowitz, V Muntoni, F
Citation: J. Philpot et al., Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?, NEUROMUSC D, 11(5), 2001, pp. 489-493

Authors: Mercuri, E Rutherford, M De Vile, C Counsell, S Sewry, C Brown, S Bydder, G Dubowitz, V Muntoni, F
Citation: E. Mercuri et al., Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy, NEUROMUSC D, 11(3), 2001, pp. 297-299

Authors: Dubowitz, V
Citation: V. Dubowitz, Kiichi Arahata (1946-2000) - Obituary, NEUROMUSC D, 11(2), 2001, pp. 219-219

Authors: Jungbluth, H Sewry, CA Brown, SC Nowak, KJ Laing, NG Wallgren-Pettersson, C Pelin, K Manzur, AY Mercuri, E Dubowitz, V Muntoni, F
Citation: H. Jungbluth et al., Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene, NEUROMUSC D, 11(1), 2001, pp. 35-40

Authors: Skordis, LA Dunckley, MG Burglen, L Campbell, L Talbot, K Patel, S Melki, J Davies, KE Dubowitz, V Muntoni, F
Citation: La. Skordis et al., Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA, HUM GENET, 108(4), 2001, pp. 356-357

Authors: Manzur, AY Dubowitz, V
Citation: Ay. Manzur et V. Dubowitz, Muscular dystrophies, CONTEMPORARY TREATMENTS IN NEUROLOGY, 2001, pp. 264-282

Authors: Jungbluth, H Sewry, C Brown, SC Manzur, AY Mercuri, E Bushby, K Rowe, P Johnson, MA Hughes, I Kelsey, A Dubowitz, V Muntoni, F
Citation: H. Jungbluth et al., Minicore myopathy in children: a clinical and histopathological study of 19 cases, NEUROMUSC D, 10(4-5), 2000, pp. 264-273

Authors: Dubowitz, DJ Tyszka, JM Sewry, CA Moats, RA Scadeng, M Dubowitz, V
Citation: Dj. Dubowitz et al., High resolution magnetic resonance imaging of the brain in the dy/dy mousewith merosin-deficient congenital muscular dystrophy, NEUROMUSC D, 10(4-5), 2000, pp. 292-298

Authors: Dubowitz, V
Citation: V. Dubowitz, Commentary from the Editor, NEUROMUSC D, 10(1), 2000, pp. V-VI

Authors: Dubowitz, V
Citation: V. Dubowitz, What is muscular dystrophy? Forty years of progressive ignorance, J ROY COL P, 34(5), 2000, pp. 464-468

Authors: Brockington, M Sewry, CA Herrmann, R Naom, I Dearlove, A Rhodes, M Topaloglu, H Dubowitz, V Voit, T Muntoni, F
Citation: M. Brockington et al., Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42, AM J HU GEN, 66(2), 2000, pp. 428-435

Authors: Wallgren-Pettersson, C Pelin, K Hilpela, P Donner, K Porfirio, B Graziano, C Swoboda, KJ Fardeau, M Urtizberea, JA Muntoni, F Sewry, C Dubowitz, V Iannaccone, S Minetti, C Pedemonte, M Seri, M Cusano, R Lammens, M Castagna-Sloane, A Beggs, AH Laing, NG de la Chapelle, A
Citation: C. Wallgren-pettersson et al., Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy, NEUROMUSC D, 9(8), 1999, pp. 564-572

Authors: Philpot, J Cowan, F Pennock, J Sewry, C Dubowitz, V Bydder, G Muntoni, F
Citation: J. Philpot et al., Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging, NEUROMUSC D, 9(2), 1999, pp. 81-85

Authors: Dubowitz, V
Citation: V. Dubowitz, Commentary from the Editor, NEUROMUSC D, 9(1), 1999, pp. 1-2

Authors: Dubowitz, V
Citation: V. Dubowitz, Forty years of neuromuscular disease: A historical perspective, J CHILD NEU, 14(1), 1999, pp. 26-28

Authors: D'Alessandro, M Naom, I Ferlini, A Sewry, C Dubowitz, V Muntoni, F
Citation: M. D'Alessandro et al., Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?, HUM GENET, 105(4), 1999, pp. 308-313

Authors: Muntoni, F Goodwin, F Sewry, C Cox, P Cowan, F Airaksinen, E Patel, S Ignatius, J Dubowitz, V
Citation: F. Muntoni et al., Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1, NEUROPEDIAT, 30(5), 1999, pp. 243-248

Authors: Pelin, K Hilpela, P Donner, K Sewry, C Akkari, PA Wilton, SD Wattanasirichaigoon, D Bang, ML Centner, T Hanefeld, F Odent, S Fardeau, M Urtizberea, JA Muntoni, F Dubowitz, V Beggs, AH Laing, NG Labeit, S de la Chapelle, A Wallgren-Pettersson, C
Citation: K. Pelin et al., Mutations in the nebulin gene associated with autosomal recessive nemalinemyopathy, P NAS US, 96(5), 1999, pp. 2305-2310

Authors: Haataja, L Mercuri, E Regev, R Cowan, F Rutherford, M Dubowitz, V Dubowitz, L
Citation: L. Haataja et al., Optimality score for the neurologic examination of he infant at 12 and 18 months of age, J PEDIAT, 135(2), 1999, pp. 153-161

Authors: Philpot, J Bagnall, A King, C Dubowitz, V Muntoni, F
Citation: J. Philpot et al., Feeding problems in merosin deficient congenital muscular dystrophy, ARCH DIS CH, 80(6), 1999, pp. 542-547
Risultati: 1-21 |