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Results: 1-18 |
Results: 18
Non-sarcolemmal muscular dystrophies
Authors: Brown, SC Muntoni, F Sewry, CA
Citation: Sc. Brown et al., Non-sarcolemmal muscular dystrophies, BRAIN PATH, 11(2), 2001, pp. 193-205
Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?
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
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
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
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
Authors: Kerr, TP Sewry, CA Robb, SA Roberts, RG
Citation: Tp. Kerr et al., Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?, HUM GENET, 109(4), 2001, pp. 402-407
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
Authors: Sewry, CA Brown, SC Mercuri, E Bonne, G Feng, L Camici, G Morris, GE Muntoni, F
Citation: Ca. Sewry et al., Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations, NEUROP AP N, 27(4), 2001, pp. 281-290
Absence of utrophin in intercalated discs of human cardiac muscle
Authors: Sewry, CA Man, NT Lynch, T Morris, GE
Citation: Ca. Sewry et al., Absence of utrophin in intercalated discs of human cardiac muscle, HISTOCHEM J, 33(1), 2001, pp. 9-12
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan
Authors: Brockington, M Blake, DJ Prandini, P Brown, SC Torelli, S Benson, MA Ponting, CP Estournet, B Romero, NB Mercuri, E Voit, T Sewry, CA Guicheney, P Muntoni, F
Citation: M. Brockington et al., Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan, AM J HU GEN, 69(6), 2001, pp. 1198-1209
Immunocytochemical analysis of human muscular dystrophy
Authors: Sewry, CA
Citation: Ca. Sewry, Immunocytochemical analysis of human muscular dystrophy, MICROSC RES, 48(3-4), 2000, pp. 142-154
Maternal contamination at fetal muscle biopsy
Authors: Overton, TG Smith, RP Sewry, CA Holder, SE Fisk, NM
Citation: Tg. Overton et al., Maternal contamination at fetal muscle biopsy, FETAL DIAGN, 15(2), 2000, pp. 118-121
High resolution magnetic resonance imaging of the brain in the dy/dy mousewith merosin-deficient congenital muscular dystrophy
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
Congenital muscular dystrophy with secondary merosin deficiency and normalbrain MRI: A novel entity?
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
Mutations in the laminin alpha 2-chain gene in two children with early-onset muscular dystrophy
Authors: Naom, I D'Alessandro, M Sewry, CA Jardine, P Ferlini, A Moss, T Dubowitz, J Muntoni, F
Citation: I. Naom et al., Mutations in the laminin alpha 2-chain gene in two children with early-onset muscular dystrophy, BRAIN, 123, 2000, pp. 31-41
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42
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
Immunological reagents and amplification systems
Authors: Sewry, CA Lu, Q
Citation: Ca. Sewry et Q. Lu, Immunological reagents and amplification systems, METH MOL M, 43, 2000, pp. 325-338
Inherited disorders of the extracellular matrix
Authors: Sewry, CA Muntoni, F
Citation: Ca. Sewry et F. Muntoni, Inherited disorders of the extracellular matrix, CURR OP NEU, 12(5), 1999, pp. 519-526
Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy
Authors: Manilal, S Sewry, CA Pereboev, A Man, NT Gobbi, P Hawkes, S Love, DR Morris, GE
Citation: S. Manilal et al., Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy, HUM MOL GEN, 8(2), 1999, pp. 353-359
Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis
Authors: Cox, PM Brueton, LA Murphy, KW Worthington, VC Bjelogrlic, P Lazda, EJ Sabire, NJ Sewry, CA
Citation: Pm. Cox et al., Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis, AM J MED G, 86(2), 1999, pp. 187-193
Risultati: 1-18 |