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Results: 1-19 |
Results: 19
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy
Authors: Campos, Y Gamez, J Garcia, A Andreu, AL Rubio, JC Martin, MA del Hoyo, P Navarro, C Cervera, C Garesse, R Arenas, J
Citation: Y. Campos et al., A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy, NEUROMUSC D, 11(5), 2001, pp. 477-480
Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study
Authors: Martin, MA Rubio, JC Buchbinder, J Fernandez-Hojas, R del Hoyo, P Teijeira, S Gamez, J Navarro, C Fernandez, JM Cabello, A Campos, Y Cervera, C Culebras, JM Andreu, AL Fletterick, R Arenas, J
Citation: Ma. Martin et al., Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study, ANN NEUROL, 50(5), 2001, pp. 574-581
Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome c oxidase II gene
Authors: Campos, Y Garcia-Redondo, A Fernandez-Moreno, MA Martinez-Pardo, M Goda, G Rubio, JC Martin, MA del Hoyo, P Cabello, A Bornstein, B Garesse, R Arenas, J
Citation: Y. Campos et al., Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome c oxidase II gene, ANN NEUROL, 50(3), 2001, pp. 409-413
Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation
Authors: Campos, Y Garcia, A Eiris, J Fuster, M Rubio, JC Martin, MA del Hoyo, P Pintos, E Castro-Gago, M Arenas, J
Citation: Y. Campos et al., Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation, J INH MET D, 24(6), 2001, pp. 685-687
Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease
Authors: Martin, MA Rubio, JC Garcia, A Fernandez, MA Campos, Y Krawczak, M Cooper, DN Arenas, J
Citation: Ma. Martin et al., Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease, CLIN GENET, 59(1), 2001, pp. 48-51
A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes
Authors: Campos, Y Lorenzo, G Martin, MA Torregrosa, A del Hoyo, P Rubio, JC Garcia, A Arenas, J
Citation: Y. Campos et al., A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes, NEUROMUSC D, 10(7), 2000, pp. 493-496
A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease
Authors: Martin, MA Rubio, JC Campos, Y Ricoy, JR Cabello, A Arenas, J
Citation: Ma. Martin et al., A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease, NEUROMUSC D, 10(6), 2000, pp. 447-449
A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease
Authors: Rubio, JC Martin, MA Campos, Y Cabello, A Arenas, J
Citation: Jc. Rubio et al., A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease, NEUROMUSC D, 10(2), 2000, pp. 138-140
Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction
Authors: Campos, Y Martin, MA Caballero, C Rubio, JC de la Cruz, F Tunon, T Arenas, J
Citation: Y. Campos et al., Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction, NEUROMUSC D, 10(1), 2000, pp. 56-58
Myocardial carnitine and carnitine palmitoyltransferase deficiencies in patients with severe heart failure
Authors: Martin, MA Gomez, MA Guillen, F Bornstein, B Campos, Y Rubio, JC de la Calzada, CS Arenas, J
Citation: Ma. Martin et al., Myocardial carnitine and carnitine palmitoyltransferase deficiencies in patients with severe heart failure, BBA-MOL BAS, 1502(3), 2000, pp. 330-336
Molecular analysis of Spanish patients with AMP deaminase deficiency
Authors: Rubio, JC Martin, MA Del Hoyo, P Bautista, J Campos, Y Segura, D Navarro, C Ricoy, JR Cabello, A Arenas, J
Citation: Jc. Rubio et al., Molecular analysis of Spanish patients with AMP deaminase deficiency, MUSCLE NERV, 23(8), 2000, pp. 1175-1178
A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease
Authors: Rubio, JC Martin, MA Campos, Y Auciello, R Cabello, A Arenas, J
Citation: Jc. Rubio et al., A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease, MUSCLE NERV, 23(1), 2000, pp. 129-131
McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient
Authors: Rubio, JC Martin, MA Garcia, A Campos, Y Cabello, A Culebras, JM Arenas, J
Citation: Jc. Rubio et al., McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient, NEUROMUSC D, 9(3), 1999, pp. 174-175
Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency
Authors: Martin, MA Rubio, JC De Bustos, F Del Hoyo, P Campos, Y Garcia, A Bornstein, B Cabello, A Arenas, J
Citation: Ma. Martin et al., Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency, MUSCLE NERV, 22(7), 1999, pp. 941-943
Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation
Authors: Martin, MA Campos, Y Garcia-Silva, MT Rubio, JC Del Hoyo, P de Bustos, F Garcia, A Arenas, J
Citation: Ma. Martin et al., Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation, J INH MET D, 22(8), 1999, pp. 939-940
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers
Authors: Arenas, J Campos, Y Bornstein, B Ribacoba, R Martin, MA Rubio, JC Santorelli, FM Zeviani, M DiMauro, S Garesse, R
Citation: J. Arenas et al., A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers, NEUROLOGY, 52(2), 1999, pp. 377-382
Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
Authors: Campos, Y Martin, MA Garcia-Silva, T del Hoyo, P Rubio, JC Castro-Gago, M Garcia-Penas, J Casas, J Cabello, A Ricoy, JR Arenas, J
Citation: Y. Campos et al., Clinical heterogeneity associated with mitochondrial DNA depletion in muscle, NEUROMUSC D, 8(8), 1998, pp. 568-573
Biological roles of L-carnitine in perinatal metabolism
Authors: Arenas, J Rubio, JC Martin, MA Campos, Y
Citation: J. Arenas et al., Biological roles of L-carnitine in perinatal metabolism, EAR HUM DEV, 53, 1998, pp. S43-S50
Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain
Authors: Rubio, JC Martin, MA Bautista, J Campos, Y Segura, D Cabello, A Chinchon, I Arenas, J
Citation: Jc. Rubio et al., Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain, J NEUR SCI, 161(2), 1998, pp. 110-113
Risultati: 1-19 |