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Results: 1-12 |
Results: 12
T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients
Authors: Sugimoto, Y Morita, R Amano, K Shah, PU Pascual-Castroviejo, I Khan, S Delgado-Escueta, AV Yamakawa, K
Citation: Y. Sugimoto et al., T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients, EPILEPSY R, 46(2), 2001, pp. 139-144
Advances in the genetics of progressive myoclonus epilepsy
Authors: Delgado-Escueta, AV Ganesh, S Yamakawa, K
Citation: Av. Delgado-escueta et al., Advances in the genetics of progressive myoclonus epilepsy, AM J MED G, 106(2), 2001, pp. 129-138
A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein
Authors: Suzuki, T Ganesh, S Agarwala, KL Morita, R Sugimoto, Y Inazawa, J Delgado-Escueta, AV Yamakawa, K
Citation: T. Suzuki et al., A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein, BIOC BIOP R, 288(3), 2001, pp. 626-636
Regional and developmental expression of Epm2a gene and its evolutionary conservation
Authors: Ganesh, S Agarwala, KL Amano, K Suzuki, T Delgado-Escueta, AV Yamakawa, K
Citation: S. Ganesh et al., Regional and developmental expression of Epm2a gene and its evolutionary conservation, BIOC BIOP R, 283(5), 2001, pp. 1046-1053
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes
Authors: Ganesh, S Agarwala, KL Ueda, K Akagi, T Shoda, K Usui, T Hashikawa, T Osada, H Delgado-Escueta, AV Yamakawa, K
Citation: S. Ganesh et al., Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes, HUM MOL GEN, 9(15), 2000, pp. 2251-2261
Childhood absence epilepsy in 8q24: Refinement of candidate region and construction of physical map
Authors: Sugimoto, Y Morita, R Amano, K Fong, CYG Shah, PU Castroviejo, IP Khan, S Delgado-Escueta, AV Yamakawa, K
Citation: Y. Sugimoto et al., Childhood absence epilepsy in 8q24: Refinement of candidate region and construction of physical map, GENOMICS, 68(3), 2000, pp. 264-272
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy
Authors: Minassian, BA Ianzano, L Meloche, M Andermann, E Rouleau, GA Delgado-Escueta, AV Scherer, SW
Citation: Ba. Minassian et al., Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy, NEUROLOGY, 55(3), 2000, pp. 341-346
Identification of new and common mutations in the EPM2A gene in Lafora disease
Authors: Minassian, BA Ianzano, L Delgado-Escueta, AV Scherer, SW
Citation: Ba. Minassian et al., Identification of new and common mutations in the EPM2A gene in Lafora disease, NEUROLOGY, 54(2), 2000, pp. 488-490
Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24
Authors: Morita, R Miyazaki, E Shah, PU Castroviejo, IP Delgado-Escueta, AV Yamakawa, K
Citation: R. Morita et al., Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24, EPILEPSY R, 37(2), 1999, pp. 151-158
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
Authors: Minassian, BA Sainz, J Serratosa, JM Gee, M Sakamoto, LM Bohlega, S Geoffroy, G Barr, C Scherer, SW Tomiyasu, U Carpenter, S Wigg, K Sanghvi, AV Delgado-Escueta, AV
Citation: Ba. Minassian et al., Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy, ANN NEUROL, 45(2), 1999, pp. 262-265
Ictal PET in temporal lobe epilepsy
Authors: Fong, CY Delgado-Escueta, AV
Citation: Cy. Fong et Av. Delgado-escueta, Ictal PET in temporal lobe epilepsy, J NE NE PSY, 67(3), 1999, pp. 409-409
Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A
Authors: Ganesh, S Amano, K Delgado-Escueta, AV Yamakawa, K
Citation: S. Ganesh et al., Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A, BIOC BIOP R, 257(1), 1999, pp. 24-28
Risultati: 1-12 |