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Results: 1-10 |
Results: 10
Hirschsprung disease, mental retardation and dysmorphic facial features infive unrelated children
Authors: Kaariainen, H Wallgren-Pettersson, C Clarke, A Pihko, H Taskinen, H Rintala, R
Citation: H. Kaariainen et al., Hirschsprung disease, mental retardation and dysmorphic facial features infive unrelated children, CLIN DYSMOR, 10(3), 2001, pp. 157-163
Abnormalities in the expression of nebulin in chromosome-2 linked nemalinemyopathy
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
Nebulin expression in patients with nemaline myopathy
Authors: Gurgel-Giannetti, J Reed, U Bang, ML Pelin, K Donner, K Marie, SK Carvalho, M Fireman, MAT Zanoteli, E Oliveira, ASB Zatz, M Wallgren-Pettersson, C Labeit, S Vainzof, M
Citation: J. Gurgel-giannetti et al., Nebulin expression in patients with nemaline myopathy, NEUROMUSC D, 11(2), 2001, pp. 154-162
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene
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
MTM1 mutations in X-linked myotubular myopathy
Authors: Laporte, J Biancalana, V Tanner, SM Kress, W Schneider, V Wallgren-Pettersson, C Herger, F Buj-Bello, A Blondeau, F Liechti-Gallati, S Mandel, JL
Citation: J. Laporte et al., MTM1 mutations in X-linked myotubular myopathy, HUM MUTAT, 15(5), 2000, pp. 393-409
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia
Authors: Lund, A Udd, B Juvonen, V Andersen, PM Cederquist, K Ronnevi, LO Sistonen, P Sorensen, SA Tranebjaerg, L Wallgren-Pettersson, C Savontaus, ML
Citation: A. Lund et al., Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia, EUR J HUM G, 8(8), 2000, pp. 631-636
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
Authors: Nowak, KJ Wattanasirichaigoon, D Goebel, HH Wilce, M Pelin, K Donner, K Jacob, RL Hubner, C Oexle, K Anderson, JR Verity, CM North, KN Iannaccone, ST Muller, CR Nurnberg, P Muntoni, F Sewry, C Hughes, I Sutphen, R Lacson, AG Swoboda, KJ Vigneron, J Wallgren-Pettersson, C Beggs, AH Laing, NG
Citation: Kj. Nowak et al., Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy, NAT GENET, 23(2), 1999, pp. 208-212
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
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
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy
Authors: Tan, P Briner, J Boltshauser, E Davis, MR Wilton, SD North, K Wallgren-Pettersson, C Laing, NG
Citation: P. Tan et al., Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy, NEUROMUSC D, 9(8), 1999, pp. 573-579
Mutations in the nebulin gene associated with autosomal recessive nemalinemyopathy
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
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