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Results: 1-14 |
Results: 14
A MODEL TO PREDICT THE ONSET AGE IN UNAFFECTED HUNTINGTONS-DISEASE MUTATION CARRIERS
Authors: SQUITIERI F GELLERA C RUGGIERI S CASTELLOTTI B FRONTALI M MANDICH P NACMIAS B DELSENNO L RAGONA G DIDONATO P AJMAR F FRATI L NOVELLETTO A
Citation: F. Squitieri et al., A MODEL TO PREDICT THE ONSET AGE IN UNAFFECTED HUNTINGTONS-DISEASE MUTATION CARRIERS, Annals of neurology, 44(3), 1998, pp. 65-65
UNUSUAL EEG PATTERN LINKED TO CHROMOSOME 3P IN A FAMILY WITH IDIOPATHIC GENERALIZED EPILEPSY
Authors: ZARA F LABUDA M GAROFALO PGA DURISOTTI C BIANCHI A CASTELLOTTI B PATEL PI AVANZINI G PANDOLFO M
Citation: F. Zara et al., UNUSUAL EEG PATTERN LINKED TO CHROMOSOME 3P IN A FAMILY WITH IDIOPATHIC GENERALIZED EPILEPSY, Neurology, 51(2), 1998, pp. 493-498
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
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
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
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
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
KENNEDYS-DISEASE - CLINICAL AND MOLECULAR STUDY OF 2 ITALIAN FAMILIES
Authors: PAREYSON D CASTELLOTTI B BOTTI S DEFANTI CA GELLERA C TARONI F SGHIRLANZONI A
Citation: D. Pareyson et al., KENNEDYS-DISEASE - CLINICAL AND MOLECULAR STUDY OF 2 ITALIAN FAMILIES, Italian journal of neurological sciences, 16(7), 1995, pp. 467-471
UNVERRICHT-LUNDBORG-DISEASE IN ITALY - GENETIC AND ELECTROCLINICAL FEATURES
Authors: TASSINARI CA AVANZINI G LEHESJOKI AE MICHELUCCI R FRANCESCHETTI S CASTELLOTTI B BINELLI S RUBBOLI G RIGUZZI P VOLPI L DELACHAPELLE A
Citation: Ca. Tassinari et al., UNVERRICHT-LUNDBORG-DISEASE IN ITALY - GENETIC AND ELECTROCLINICAL FEATURES, Epilepsia, 36, 1995, pp. 8-8
UNUSUAL ATAXIC PHENOTYPE IN A PATIENT WITH ABNORMAL (GAG)(N) EXPANSION AT THE HD LOCUS
Authors: GELLERA C ZAPPACOSTA MB GIROTTI F MEONI C CASTELLOTTI B TARONI F DIDONATO S
Citation: C. Gellera et al., UNUSUAL ATAXIC PHENOTYPE IN A PATIENT WITH ABNORMAL (GAG)(N) EXPANSION AT THE HD LOCUS, American journal of human genetics, 57(4), 1995, pp. 1959-1959
SUBMICROSCOPIC DELETION IN 17P11.2-P12 IN ITALIAN HNPP FAMILIES
Authors: PAREYSON D SGHIRLANZONI A SCAIOLI V CASTELLOTTI B DIDONATO S PANDOLFO M LORENZETTI D LUPSKI JR
Citation: D. Pareyson et al., SUBMICROSCOPIC DELETION IN 17P11.2-P12 IN ITALIAN HNPP FAMILIES, Neurology, 44(4), 1994, pp. 10000306-10000306
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