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Results: 1-21 |
Results: 21
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
Nemaline myopathy: A clinical study of 143 cases
Authors: Ryan, MM Schnell, C Strickland, CD Shield, LK Morgan, G Iannaccone, ST Laing, NG Beggs, AH North, KN
Citation: Mm. Ryan et al., Nemaline myopathy: A clinical study of 143 cases, ANN NEUROL, 50(3), 2001, pp. 312-320
Allelic loss of cyclophilin 40, an estrogen receptor-associated immunophilin, in breast carcinomas
Authors: Ward, BK Kumar, P Turbett, GR Edmondston, JE Papadimitriou, JM Laing, NG Ingram, DM Minchin, RF Ratajczak, T
Citation: Bk. Ward et al., Allelic loss of cyclophilin 40, an estrogen receptor-associated immunophilin, in breast carcinomas, J CANC RES, 127(2), 2001, pp. 109-115
Complete genomic screen in parkinson disease - Evidence for multiple genes
Authors: Scott, WK Nance, MA Watts, RL Hubble, JP Koller, WC Lyons, K Pahwa, R Stern, MB Colcher, A Hiner, BC Jankovic, J Ondo, WG Allen, FH Goetz, CG Small, GW Masterman, D Mastaglia, F Laing, NG Stajich, JM Slotterbeck, B Booze, MW Ribble, RC Rampersaud, E West, SG Gibson, RA Middleton, LT Roses, AD Haines, JL Scott, BL Vance, JM Pericak-Vance, MA
Citation: Wk. Scott et al., Complete genomic screen in parkinson disease - Evidence for multiple genes, J AM MED A, 286(18), 2001, pp. 2239-2244
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease
Authors: Martin, ER Scott, WK Nance, MA Watts, RL Hubble, JP Koller, WC Lyons, K Pahwa, R Stern, MB Colcher, A Hiner, BC Jankovic, J Ondo, WG Allen, FH Goetz, CG Small, GW Masterman, D Mastaglia, F Laing, NG Stajich, JM Ribble, RC Booze, MW Rogala, A Hauser, MA Zhang, FY Gibson, RA Middleton, LT Roses, AD Haines, JL Scott, BL Pericak-Vance, MA Vance, JM
Citation: Er. Martin et al., Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease, J AM MED A, 286(18), 2001, pp. 2245-2250
Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle
Authors: Thirion, C Stucka, R Mendel, B Gruhler, A Jaksch, M Nowak, KJ Binz, N Laing, NG Lochmuller, H
Citation: C. Thirion et al., Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle, EUR J BIOCH, 268(12), 2001, pp. 3473-3482
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene
Authors: Ilkovski, B Cooper, ST Nowak, K Ryan, MM Yang, N Schnell, C Durling, HJ Roddick, LG Wilkinson, I Kornberg, AJ Collins, KJ Wallace, G Gunning, P Hardeman, EC Laing, NG North, KN
Citation: B. Ilkovski et al., Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene, AM J HU GEN, 68(6), 2001, pp. 1333-1343
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion
Authors: Nowak, KJ Walsh, P Jacob, RL Johnsen, RD Peverall, J McNally, EM Wilton, SD Kakulas, BA Laing, NG
Citation: Kj. Nowak et al., Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion, NEUROMUSC D, 10(2), 2000, pp. 100-107
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms
Authors: Hentati, A Deng, HX Zhai, H Chen, W Yang, Y Hung, WY Azim, AC Bohlega, S Tandan, R Warner, C Laing, NG Cambi, F Mitsumoto, H Roos, RP Boustany, RM Ben Hamida, M Hentati, F Siddique, T
Citation: A. Hentati et al., Novel mutations in spastin gene and absence of correlation with age at onset of symptoms, NEUROLOGY, 55(9), 2000, pp. 1388-1390
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy
Authors: Scacheri, PC Hoffman, EP Fratkin, JD Semino-Mora, C Senchak, A Davis, MR Laing, NG Vedanarayanan, V Subramony, SH
Citation: Pc. Scacheri et al., A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy, NEUROLOGY, 55(11), 2000, pp. 1689-1696
Inherited disorders of sarcomeric proteins
Authors: Laing, NG
Citation: Ng. Laing, Inherited disorders of sarcomeric proteins, CURR OP NEU, 12(5), 1999, pp. 513-518
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
Inherited skeletal muscle disorders
Authors: Laing, NG Mastaglia, FL
Citation: Ng. Laing et Fl. Mastaglia, Inherited skeletal muscle disorders, ANN HUM BIO, 26(6), 1999, pp. 507-525
The contribution of molecular genetics in the diagnosis and management of neuromuscular disorders
Authors: Kakulas, BA Laing, NG Johnsen, RD
Citation: Ba. Kakulas et al., The contribution of molecular genetics in the diagnosis and management of neuromuscular disorders, SC J RE MED, 1999, pp. 5-22
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
Distal myopathies: clinical and molecular diagnosis and classification
Authors: Mastaglia, FL Laing, NG
Citation: Fl. Mastaglia et Ng. Laing, Distal myopathies: clinical and molecular diagnosis and classification, J NE NE PSY, 67(6), 1999, pp. 703-707
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
Authors: Mastaglia, FL Nowak, KJ Stell, R Phillips, BA Edmondston, JE Dorosz, SM Wilton, SD Hallmayer, J Kakulas, BA Laing, NG
Citation: Fl. Mastaglia et al., Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy, J NE NE PSY, 67(2), 1999, pp. 174-179
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor
Authors: Al-Chalabi, A Andersen, PM Chioza, B Shaw, C Sham, PC Robberecht, W Matthijs, G Camu, V Marklund, SL Forsgren, L Rouleau, G Laing, NG Hurse, PV Siddique, T Leigh, PN Powell, JF
Citation: A. Al-chalabi et al., Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor, HUM MOL GEN, 7(13), 1998, pp. 2045-2050
Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene
Authors: McNaughton, JC Cockburn, DJ Hughes, G Jones, WA Laing, NG Ray, PN Stockwell, PA Petersen, GB
Citation: Jc. Mcnaughton et al., Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene, GENE, 222(1), 1998, pp. 41-51
Risultati: 1-21 |