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Results: 1-10 |
Results: 10

Authors: Sewry, CA Brown, SC Pelin, K Jungbluth, H Wallgren-Pettersson, C Labeit, S Manzur, A Muntoni, F
Citation: Ca. Sewry et al., Abnormalities in the expression of nebulin in chromosome-2 linked nemalinemyopathy, NEUROMUSC D, 11(2), 2001, pp. 146-153

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: Rees, MI Lewis, TM Vafa, B Ferrie, C Corry, P Muntoni, F Jungbluth, H Stephenson, JBP Kerr, M Snell, RG Schofield, RR Owen, MJ
Citation: Mi. Rees et al., Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia, HUM GENET, 109(3), 2001, pp. 267-270

Authors: Haubold, HG Vad, T Jungbluth, H Hiller, P
Citation: Hg. Haubold et al., Nano structure of NAFION: a SAXS study, ELECTR ACT, 46(10-11), 2001, pp. 1559-1563

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: Jungbluth, H Manzur, AY Bydder, G Muntoni, F
Citation: H. Jungbluth et al., Generalized calcification in a case of dermatomyositis, NEUROMUSC D, 10(2), 2000, pp. 150-150

Authors: Mercuri, E Sewry, CA Brown, SC Brockington, M Jungbluth, H DeVile, C Counsell, S Manzur, A Muntoni, F
Citation: E. Mercuri et al., Congenital muscular dystrophy with secondary merosin deficiency and normalbrain MRI: A novel entity?, NEUROPEDIAT, 31(4), 2000, pp. 186-189

Authors: Mercuri, E Manzur, AY Jungbluth, H Bonne, G Muchir, A Sewry, C Schwartz, K Muntoni, F
Citation: E. Mercuri et al., Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2), NEUROLOGY, 54(8), 2000, pp. 1704-1705

Authors: Haubold, HG Hiller, P Jungbluth, H Vad, T
Citation: Hg. Haubold et al., Characterization of electrocatalysts by in situ SAXS and XAS investigations, JPN J A P 1, 38, 1999, pp. 36-39

Authors: Mercuri, E Poulton, J Buck, J Broadbent, V Bamford, M Jungbluth, H Manzur, AY Muntoni, F
Citation: E. Mercuri et al., Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A, ARCH DIS CH, 81(5), 1999, pp. 442-443
Risultati: 1-10 |