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Results: 1-18 |
Results: 18
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
Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene
Authors: Vives-Bauza, C Gamez, J Roig, M Briones, P Cervera, C Solano, A Montoya, J Andreu, AL
Citation: C. Vives-bauza et al., Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene, ANN MED, 33(7), 2001, pp. 493-496
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
Autosomal dominant limb-girdle muscular dystrophy - A large kindred with evidence for anticipation
Authors: Gamez, J Navarro, C Andreu, AL Fernandez, JM Palenzuela, L Tejeira, S Fernandez-Hojas, R Schwartz, S Karadimas, C DiMauro, S Hirano, M Cervera, C
Citation: J. Gamez et al., Autosomal dominant limb-girdle muscular dystrophy - A large kindred with evidence for anticipation, NEUROLOGY, 56(4), 2001, pp. 450-454
Bilateral optic nerve atrophy in myotonic dystrophy
Authors: Gamez, J Montane, D Martorell, L Minoves, T Cervera, C
Citation: J. Gamez et al., Bilateral optic nerve atrophy in myotonic dystrophy, AM J OPHTH, 131(3), 2001, pp. 398-400
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1
Authors: Martorell, L Monckton, DG Gamez, J Baiget, M
Citation: L. Martorell et al., Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1, EUR J HUM G, 8(6), 2000, pp. 423-430
MRI findings in Mobius syndrome: Correlation with clinical features
Authors: Pedraza, S Gamez, J Rovira, A Zamora, A Grive, E Raguer, N Ruscalleda, J
Citation: S. Pedraza et al., MRI findings in Mobius syndrome: Correlation with clinical features, NEUROLOGY, 55(7), 2000, pp. 1058-1060
Brachial amyotrophic diplegia: A slowly progressive motor neuron disorder (vol 54, pg 2354, 2000)
Authors: Gamez, J Codina, A Cervera, C
Citation: J. Gamez et al., Brachial amyotrophic diplegia: A slowly progressive motor neuron disorder (vol 54, pg 2354, 2000), NEUROLOGY, 55(7), 2000, pp. 1070-1070
Brachial amyotrophic diplegia: A slowly progressive motor neuron disorder
Authors: Gamez, J Codina, A Cervera, C
Citation: J. Gamez et al., Brachial amyotrophic diplegia: A slowly progressive motor neuron disorder, NEUROLOGY, 54(12), 2000, pp. 2355-2355
New hope for patients with pure lower motor neuron syndromes
Authors: Gamez, J Cervera, C Codina, A
Citation: J. Gamez et al., New hope for patients with pure lower motor neuron syndromes, J NE NE PSY, 68(3), 2000, pp. 398-398
Atypical form of amyotrophic lateral sclerosis: a new term to define a previously well known form of ALS
Authors: Gamez, J Cervera, C Codina, A
Citation: J. Gamez et al., Atypical form of amyotrophic lateral sclerosis: a new term to define a previously well known form of ALS, J NE NE PSY, 68(1), 2000, pp. 118-119
Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations
Authors: Vila, MR Gamez, J Solano, A Playan, A Schwartz, S Santorelli, FM Cervera, C Casali, C Montoya, J Villarroya, F
Citation: Mr. Vila et al., Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations, BIOC BIOP R, 278(3), 2000, pp. 800-802
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease
Authors: Fernandez, R Navarro, C Andreu, AL Bruno, C Shanske, S Gamez, J Teijeira, S Hernandez, I Teijeiro, A Fernandez, JM Musumeci, O DiMauro, S
Citation: R. Fernandez et al., A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease, ARCH NEUROL, 57(2), 2000, pp. 217-219
New mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patientwith McArdle's disease
Authors: Andreu, AL Bruno, C Tamburino, L Gamez, J Shanske, S Cervera, C Navarro, C DiMauro, S
Citation: Al. Andreu et al., New mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patientwith McArdle's disease, NEUROMUSC D, 9(3), 1999, pp. 171-173
Novel mutations in the muscle chloride channel CLCN1 gene causing myotoniacongenita in Spanish families
Authors: de Diego, C Gamez, J Plassart-Schiess, E Lasa, A Del Rio, E Cervera, C Baiget, M Gallano, P Fontaine, B
Citation: C. De Diego et al., Novel mutations in the muscle chloride channel CLCN1 gene causing myotoniacongenita in Spanish families, J NEUROL, 246(9), 1999, pp. 825-829
A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact
Authors: Gamez, J Fernandez, R Bruno, C Andreu, AL Cervera, C Navarro, C Schwartz, S DiMauro, S
Citation: J. Gamez et al., A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact, MUSCLE NERV, 22(8), 1999, pp. 1136-1138
Pharyngo-esophageal motility disturbances in patients with myotonic dystrophy
Authors: Modolell, I Mearin, F Baudet, JS Gamez, J Cervera, C Malagelada, JR
Citation: I. Modolell et al., Pharyngo-esophageal motility disturbances in patients with myotonic dystrophy, SC J GASTR, 34(9), 1999, pp. 878-882
Flail arm syndrome or Vulpian-Bernhart's form of amyotrophic lateral sclerosis
Authors: Gamez, J Cervera, C Codina, A
Citation: J. Gamez et al., Flail arm syndrome or Vulpian-Bernhart's form of amyotrophic lateral sclerosis, J NE NE PSY, 67(2), 1999, pp. 258-258
Risultati: 1-18 |