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Results: 1-25 | 26-50 | 51-71
Results: 1-25/71
FRATAXIN GENE-MUTATIONS IN FRIEDREICHS ATAXIA ALLELES NOT CARRYING THE GAA EXPANSION
Authors: GELLERA C BOTTI S CASTELLOTTI B RIGGIO MC MAZZUCCHELLI F DIDONATO S TARONI F
Citation: C. Gellera et al., FRATAXIN GENE-MUTATIONS IN FRIEDREICHS ATAXIA ALLELES NOT CARRYING THE GAA EXPANSION, Neurology, 50(4), 1998, pp. 53001-53001
ATAXIA WITH ISOLATED VITAMIN-E-DEFICIENCY - HETEROGENEITY OF MUTATIONS AND PHENOTYPIC VARIABILITY IN A LARGE NUMBER OF FAMILIES
Authors: CAVALIER L OUAHCHI K KAYDEN HJ DIDONATO S REUTENAUER L MANDEL JL KOENIG M
Citation: L. Cavalier et al., ATAXIA WITH ISOLATED VITAMIN-E-DEFICIENCY - HETEROGENEITY OF MUTATIONS AND PHENOTYPIC VARIABILITY IN A LARGE NUMBER OF FAMILIES, American journal of human genetics, 62(2), 1998, pp. 301-310
LIMITED EFFICACY OF THE HSV-TK GCV SYSTEM FOR GENE-THERAPY OF MALIGNANT GLIOMAS AND PERSPECTIVES FOR THE COMBINED TRANSDUCTION OF THE INTERLEUKIN-4 GENE/
Authors: BENEDETTI S DIMECO F POLLO B CIRENEI N COLOMBO BM BRUZZONE MG CATTANEO E VESCOVI A DIDONATO S COLOMBO MP FINOCCHIARO G
Citation: S. Benedetti et al., LIMITED EFFICACY OF THE HSV-TK GCV SYSTEM FOR GENE-THERAPY OF MALIGNANT GLIOMAS AND PERSPECTIVES FOR THE COMBINED TRANSDUCTION OF THE INTERLEUKIN-4 GENE/, Human gene therapy, 8(11), 1997, pp. 1345-1353
PHENOTYPIC VARIABILITY IN FRIEDREICH-ATAXIA - ROLE OF THE ASSOCIATED GAA TRIPLET REPEAT EXPANSION
Authors: MONTERMINI L RICHTER A MORGAN K JUSTICE CM JULIEN D CASTELLOTTI B MERCIER J POIRIER J CAPOZZOLI F BOUCHARD JP LEMIEUX B MATHIEU J VANASSE M SENI MH GRAHAM G ANDERMANN F ANDERMANN E MELANCON SB KEATS BJB DIDONATO S PANDOLFO M
Citation: L. Montermini et al., PHENOTYPIC VARIABILITY IN FRIEDREICH-ATAXIA - ROLE OF THE ASSOCIATED GAA TRIPLET REPEAT EXPANSION, Annals of neurology, 41(5), 1997, pp. 675-682
VERY LATE-ONSET FRIEDREICHS ATAXIA WITHOUT CARDIOMYOPATHY IS ASSOCIATED WITH LIMITED GAA EXPANSION IN THE X25 GENE
Authors: GELLERA C PAREYSON D CASTELLOTTI B MAZZUCCHELLI F ZAPPACOSTA B PANDOLFO M DIDONATO S
Citation: C. Gellera et al., VERY LATE-ONSET FRIEDREICHS ATAXIA WITHOUT CARDIOMYOPATHY IS ASSOCIATED WITH LIMITED GAA EXPANSION IN THE X25 GENE, Neurology, 49(4), 1997, pp. 1153-1155
CLINICAL AND GENETIC-STUDIES IN ITALIAN AUTOSOMAL-DOMINANT CEREBELLARATAXIAS
Authors: ZAPPACOSTA B GELLERA C MAZZUCCHELLI F CASTELLOTTI B RIGGIO MC PAREYSON D DIDONATO S
Citation: B. Zappacosta et al., CLINICAL AND GENETIC-STUDIES IN ITALIAN AUTOSOMAL-DOMINANT CEREBELLARATAXIAS, Neurology, 48(3), 1997, pp. 3078-3078
FRIEDREICHS ATAXIA IN NORTHERN ITALY - DNA EXPANSION AND GENOTYPE-PHENOTYPE CORRELATIONS
Authors: PAREYSON D GELLERA C CASTELLOTTI B ZAPPACOSTA B MAZZUCCHELLI F RIGGIO MC TARONI F PANDOLFO M DIDONATO S
Citation: D. Pareyson et al., FRIEDREICHS ATAXIA IN NORTHERN ITALY - DNA EXPANSION AND GENOTYPE-PHENOTYPE CORRELATIONS, Neurology, 48(3), 1997, pp. 26004-26004
EMERGING TREATMENTS IN MYOPATHIES
Authors: ANTOZZI C CONFALONIERI P MANTEGAZZA R DIDONATO S
Citation: C. Antozzi et al., EMERGING TREATMENTS IN MYOPATHIES, European neurology, 38(3), 1997, pp. 222-229
EVIDENCES THAT HUMAN FRATAXIN LOCALIZES IN THE MITOCHONDRIA AND IS EXPRESSED IN NEURAL TISSUES SELECTIVELY AFFECTED IN FRIEDREICHS ATAXIA
Authors: CAVADINI P DIBLASI C PRINCIVALLE A BARATTA S DIDONATO S BATTAGLIA G MORA M TARONI F
Citation: P. Cavadini et al., EVIDENCES THAT HUMAN FRATAXIN LOCALIZES IN THE MITOCHONDRIA AND IS EXPRESSED IN NEURAL TISSUES SELECTIVELY AFFECTED IN FRIEDREICHS ATAXIA, American journal of human genetics, 61(4), 1997, pp. 219-219
GENE MICROMUTATIONS IN FRIEDREICHS ATAXIA ALLELES NOT CARRYING THE GAA EXPANSION
Authors: BOTTI S CASTELLOTTI B RIGGIO MC BARATTA S DIDONATO S CAVADINI P GELLERA C TARONI F
Citation: S. Botti et al., GENE MICROMUTATIONS IN FRIEDREICHS ATAXIA ALLELES NOT CARRYING THE GAA EXPANSION, American journal of human genetics, 61(4), 1997, pp. 1912-1912
CELLULAR-MODELS FOR PATHOGENESIS IN MITOCHONDRIAL DISEASES
Authors: DIDONATO S
Citation: S. Didonato, CELLULAR-MODELS FOR PATHOGENESIS IN MITOCHONDRIAL DISEASES, Current opinion in neurology, 9(6), 1996, pp. 469-472
EFFECTS OF HSV-TK AND IL-4 GENE-TRANSFER IN EXPERIMENTAL GLIOMAS
Authors: BENEDETTI S DIMECO F CIRENEI N POLLO B BRUZZONE MG COLOMBO BM VESCOVI A COLOMBO M DIDONATO S FINOCCHIARO G
Citation: S. Benedetti et al., EFFECTS OF HSV-TK AND IL-4 GENE-TRANSFER IN EXPERIMENTAL GLIOMAS, Cancer gene therapy, 3(6), 1996, pp. 91-91
TRIBUTE TO HARDING,ANITA (1952-1995) - OBITUARY
Authors: DIDONATO S FEDERICO A
Citation: S. Didonato et A. Federico, TRIBUTE TO HARDING,ANITA (1952-1995) - OBITUARY, Italian journal of neurological sciences, 17(3), 1996, pp. 258-258
FRIEDREICHS-ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONIC GAA TRIPLET REPEAT EXPANSION
Authors: CAMPUZANO V MONTERMINI L MOLTO MD PIANESE L COSSEE M CAVALCANTI F MONROS E RODIUS F DUCLOS F MONTICELLI A ZARA F CANIZARES J KOUTNIKOVA H BIDICHANDANI SI GELLERA C BRICE A TROUILLAS P DEMICHELE G FILLA A DEFRUTOS R PALAU F PATEL PI DIDONATO S MANDEL JL COCOZZA S KOENIG M PANDOLFO M
Citation: V. Campuzano et al., FRIEDREICHS-ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONIC GAA TRIPLET REPEAT EXPANSION, Science, 271(5254), 1996, pp. 1423-1427
FRIEDREICH ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONICGAA TRIPLET REPEAT EXPANSION
Authors: MONTERMINI L ZARA F BIDICHANDANI S PATEL PI PANDOLFO M CAMPUZANO V COSSEE M RODIUS F DUCLOS F KOUTNIKOVA H MANDEL JL KOENIG M PIANESE FL MONTICELLI A CAVALCANTI F COCOZZA S DEMICHELE G FILLA A BRICE A TROUILLAS P MONROS E PALAU F CANIZARES J DEFRUTOS R GELLERA C DIDONATO S
Citation: L. Montermini et al., FRIEDREICH ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONICGAA TRIPLET REPEAT EXPANSION, Neurology, 47(1), 1996, pp. 294-294
HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - A NONSENSEMUTATION IN THE PMP22 GENE IN A FAMILY NOT CARRYING THE COMMON 17P11.2-12 DELETION
Authors: TARONI F BOTTI S SGHIRLANZONI A SCAIOLI V DIDONATO S PAREYSON D
Citation: F. Taroni et al., HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - A NONSENSEMUTATION IN THE PMP22 GENE IN A FAMILY NOT CARRYING THE COMMON 17P11.2-12 DELETION, Neurology, 46(2), 1996, pp. 21002-21002
ERRORS IN HUNTINGTON DISEASE DIAGNOSTIC-TEST CAUSED BY TRINUCLEOTIDE DELETION IN THE IT15 GENE
Authors: GELLERA C MEONI C CASTELLOTTI B ZAPPACOSTA B GIROTTI F TARONI F DIDONATO S
Citation: C. Gellera et al., ERRORS IN HUNTINGTON DISEASE DIAGNOSTIC-TEST CAUSED BY TRINUCLEOTIDE DELETION IN THE IT15 GENE, American journal of human genetics, 59(2), 1996, pp. 475-477
DELETION MAPPING OF GLIOMAS SUGGESTS THE PRESENCE OF 2 SMALL REGIONS FOR CANDIDATE TUMOR-SUPPRESSOR GENES IN A 17-CM INTERVAL ON CHROMOSOME-10Q
Authors: ALBAROSA R COLOMBO BM ROZ L MAGNANI I POLLO B CIRENEI N GIANI C CONTI AMF DIDONATO S FINOCCHIARO G
Citation: R. Albarosa et al., DELETION MAPPING OF GLIOMAS SUGGESTS THE PRESENCE OF 2 SMALL REGIONS FOR CANDIDATE TUMOR-SUPPRESSOR GENES IN A 17-CM INTERVAL ON CHROMOSOME-10Q, American journal of human genetics, 58(6), 1996, pp. 1260-1267
CAN WE AVOID AVED
Authors: DIDONATO S
Citation: S. Didonato, CAN WE AVOID AVED, Nature genetics, 9(2), 1995, pp. 106-107
EVIDENCE OF LINKAGE BETWEEN SUSCEPTIBILITY TO MULTIPLE-SCLEROSIS AND HLA-CLASS-II LOCI IN ITALIAN MULTIPLEX FAMILIES
Authors: EOLI M PANDOLFO M AMOROSO A SALMAGGI A ZAFFARONI M GASPARINI P DIDONATO S MILANESE C ZEVIANI M
Citation: M. Eoli et al., EVIDENCE OF LINKAGE BETWEEN SUSCEPTIBILITY TO MULTIPLE-SCLEROSIS AND HLA-CLASS-II LOCI IN ITALIAN MULTIPLEX FAMILIES, European journal of human genetics, 3(5), 1995, pp. 303-311
MAPPING OF GENES PREDISPOSING TO IDIOPATHIC GENERALIZED EPILEPSY
Authors: ZARA F BIANCHI A AVANZINI G DIDONATO S CASTELLOTTI B PATEL PI PANDOLFO M
Citation: F. Zara et al., MAPPING OF GENES PREDISPOSING TO IDIOPATHIC GENERALIZED EPILEPSY, Human molecular genetics, 4(7), 1995, pp. 1201-1207
NUCLEAR-DNA ORIGIN OF CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGHS SYNDROME - GENETIC-EVIDENCE BASED ON PATIENTS-DERIVED RHO-DEGREES TRANSFORMANTS
Authors: TIRANTI V MUNARO M SANDONA D LAMANTEA E RIMOLDI M DIDONATO S BISSON R ZEVIANI M
Citation: V. Tiranti et al., NUCLEAR-DNA ORIGIN OF CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGHS SYNDROME - GENETIC-EVIDENCE BASED ON PATIENTS-DERIVED RHO-DEGREES TRANSFORMANTS, Human molecular genetics, 4(11), 1995, pp. 2017-2023
CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS
Authors: VERDERIO E CAVADINI P MONTERMINI L WANG HW LAMANTEA E FINOCCHIARO G DIDONATO S GELLERA C TARONI F
Citation: E. Verderio et al., CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS, Human molecular genetics, 4(1), 1995, pp. 19-29
THE GENE (NFE2L1) FOR HUMAN NRF-1, AN ACTIVATOR INVOLVED IN NUCLEAR-MITOCHONDRIAL INTERACTIONS, MAPS TO 7Q32
Authors: TIRANTI V ROSSI E ROCCHI M DIDONATO S ZUFFARDI O ZEVIANI M
Citation: V. Tiranti et al., THE GENE (NFE2L1) FOR HUMAN NRF-1, AN ACTIVATOR INVOLVED IN NUCLEAR-MITOCHONDRIAL INTERACTIONS, MAPS TO 7Q32, Genomics, 27(3), 1995, pp. 555-557
CHROMOSOMAL LOCALIZATION OF MITOCHONDRIAL TRANSCRIPTION FACTOR-A (TCF6), SINGLE-STRANDED DNA-BINDING PROTEIN (SSBP), AND ENDONUCLEASE-G (ENDOC), 3 HUMAN HOUSEKEEPING GENES INVOLVED IN MITOCHONDRIAL BIOGENESIS
Authors: TIRANTI V ROSSI E RUIZCARRILLO A ROSSI G ROCCHI M DIDONATO S ZUFFARDI O ZEVIANI M
Citation: V. Tiranti et al., CHROMOSOMAL LOCALIZATION OF MITOCHONDRIAL TRANSCRIPTION FACTOR-A (TCF6), SINGLE-STRANDED DNA-BINDING PROTEIN (SSBP), AND ENDONUCLEASE-G (ENDOC), 3 HUMAN HOUSEKEEPING GENES INVOLVED IN MITOCHONDRIAL BIOGENESIS, Genomics, 25(2), 1995, pp. 559-564
Risultati: 1-25 | 26-50 | 51-71