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Results: 1-7 |
Results: 7
Two new genes from the human ATP-binding cassette transporter superfamily,ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12
Authors: Tammur, J Prades, C Arnould, I Rzhetsky, A Hutchinson, A Adachi, M Schuetz, JD Swoboda, KJ Ptacek, LJ Rosier, M Dean, M Allikmets, R
Citation: J. Tammur et al., Two new genes from the human ATP-binding cassette transporter superfamily,ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12, GENE, 273(1), 2001, pp. 89-96
Paroxysmal kinesigenic dyskinesia and infantile convulsions - Clinical andlinkage studies
Authors: Swoboda, KJ Soong, BW McKenna, C Brunt, ERP Litt, M Bale, JF Ashizawa, T Bennett, LB Bowcock, AM Roach, ES Gerson, D Matsuura, T Heydemann, PT Nespeca, MP Jankovic, J Leppert, M Ptacek, LJ
Citation: Kj. Swoboda et al., Paroxysmal kinesigenic dyskinesia and infantile convulsions - Clinical andlinkage studies, NEUROLOGY, 55(2), 2000, pp. 224-230
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
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency
Authors: Hyland, K Nygaard, TG Trugman, JM Swoboda, KJ Arnold, LA Sparagana, SP
Citation: K. Hyland et al., Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency, J INH MET D, 22(3), 1999, pp. 213-215
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency
Authors: Swoboda, KJ Hyland, K Goldstein, DS Kuban, KCK Arnold, LA Holmes, CS Levy, HL
Citation: Kj. Swoboda et al., Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency, NEUROLOGY, 53(6), 1999, pp. 1205-1211
Sources and physiological significance of plasma dopamine sulfate
Authors: Goldstein, DS Swoboda, KJ Miles, JM Coppack, SW Aneman, A Holmes, C Lamensdorf, I Eisenhofer, G
Citation: Ds. Goldstein et al., Sources and physiological significance of plasma dopamine sulfate, J CLIN END, 84(7), 1999, pp. 2523-2531
Risultati: 1-7 |