Results: 1-9 |
Results: 9

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: 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

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: Ridanpaa, M van Eenennaam, H Pelin, K Chadwick, R Johnson, C Yuan, B vanVenrooij, W Pruijn, G Salmela, R Rockas, S Makitie, O Kaitila, I de la Chapelle, A
Citation: M. Ridanpaa et al., Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia, CELL, 104(2), 2001, pp. 195-203

Authors: Centner, T Yano, J Kimura, E McElhinny, AS Pelin, K Witt, CC Bang, ML Trombitas, K Granzier, H Gregorio, CC Sorimachi, H Labeit, S
Citation: T. Centner et al., Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain, J MOL BIOL, 306(4), 2001, pp. 717-726

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

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: Kolmerer, B Witt, CC Freiburg, A Millevoi, S Stier, G Sorimachi, H Pelin, K Carrier, L Schwartz, K Labeit, D Gregorio, CC Linke, WA Labeit, S
Citation: B. Kolmerer et al., The titin cDNA sequence and partial genomic sequences: Insights into the molecular genetics, cell biology and physiology of the titin filament system, REV PHYS B, 138, 1999, pp. 19-55

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
Risultati: 1-9 |