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Results: 1-18 |
Results: 18
PARENTAL GENDER, AGE AT BIRTH AND EXPANSION LENGTH INFLUENCE GAA REPEAT INTERGENERATIONAL INSTABILITY IN THE X25 GENE - PEDIGREE STUDIES AND ANALYSIS OF SPERM FROM PATIENTS WITH FRIEDREICHS ATAXIA
Authors: DEMICHELE G CAVALCANTI F CRISCUOLO C PIANESE L MONTICELLI A FILLA A COCOZZA S
Citation: G. Demichele et al., PARENTAL GENDER, AGE AT BIRTH AND EXPANSION LENGTH INFLUENCE GAA REPEAT INTERGENERATIONAL INSTABILITY IN THE X25 GENE - PEDIGREE STUDIES AND ANALYSIS OF SPERM FROM PATIENTS WITH FRIEDREICHS ATAXIA, Human molecular genetics (Print), 7(12), 1998, pp. 1901-1906
DETERMINANTS OF ONSET AGE IN FRIEDREICHS ATAXIA
Authors: DEMICHELE G FILLA A CRISCUOLO C SCARANO V CAVALCANTI F PIANESE L MONTICELLI A COCOZZA S
Citation: G. Demichele et al., DETERMINANTS OF ONSET AGE IN FRIEDREICHS ATAXIA, Journal of neurology, 245(3), 1998, pp. 166-168
FRATAXIN FRACAS
Authors: COSSEE M CAMPUZANO V KOUTNIKOVA H FISCHBECK K MANDEL JL KOENIG M BIDICHANDANI SI PATEL PI MOLTE MD CANIZARES J DEFRUTOS R PIANESE L CAVALCANTI F MONTICELLI A COCOZZA S MONTERMINI L PANDOLFO M
Citation: M. Cossee et al., FRATAXIN FRACAS, Nature genetics, 15(4), 1997, pp. 337-338
THE FRIEDREICH ATAXIA GAA TRIPLET REPEAT - PREMUTATION AND NORMAL ALLELES
Authors: MONTERMINI L ANDERMANN E LABUDA M RICHTER A PANDOLFO M CAVALCANTI F PIANESE L IODICE L FARINA G MONTICELLI A TURANO M FILLA A DEMICHELE G COCOZZA S
Citation: L. Montermini et al., THE FRIEDREICH ATAXIA GAA TRIPLET REPEAT - PREMUTATION AND NORMAL ALLELES, Human molecular genetics, 6(8), 1997, pp. 1261-1266
BROADENED FRIEDREICHS ATAXIA PHENOTYPE AFTER GENE CLONING - MINIMAL GAA EXPANSION CAUSES LATE-ONSET SPASTIC ATAXIA
Authors: RAGNO M DEMICHELE G CAVALCANTI F PIANESE L MONTICELLI A CURATOLA L BOLLETTINI F COCOZZA S CARUSO G SANTORO L FILLA A
Citation: M. Ragno et al., BROADENED FRIEDREICHS ATAXIA PHENOTYPE AFTER GENE CLONING - MINIMAL GAA EXPANSION CAUSES LATE-ONSET SPASTIC ATAXIA, Neurology, 49(6), 1997, pp. 1617-1620
FRIEDREICHS ATAXIA AFTER GENE CLONING - THE SENSITIVITY AND SPECIFICITY OF CLINICAL-DIAGNOSIS
Authors: FILLA A CAVALCANTI F DEMICHELE G PIANESE L MONTICELLI A PERRETTI A SANTORO L TURANO M CAMPANELLA G COCOZZA S
Citation: A. Filla et al., FRIEDREICHS ATAXIA AFTER GENE CLONING - THE SENSITIVITY AND SPECIFICITY OF CLINICAL-DIAGNOSIS, Neurology, 48(3), 1997, pp. 3083-3083
THE EFFECT OF PARENTAL GENDER ON THE GAA DYNAMIC MUTATION IN THE FRDAGENE
Authors: PIANESE L CAVALCANTI F DEMICHELE G FILLA A CAMPANELLA G CALABRESE O CASTALDO I MONTICELLI A COCOZZA S
Citation: L. Pianese et al., THE EFFECT OF PARENTAL GENDER ON THE GAA DYNAMIC MUTATION IN THE FRDAGENE, American journal of human genetics, 60(2), 1997, pp. 460-463
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
THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (GAA) REPEAT LENGTH AND CLINICAL-FEATURES IN FRIEDREICH ATAXIA
Authors: FILLA A DEMICHELE G CAVALCANTI F PIANESE L MONTICELLI A CAMPANELLA G COCOZZA S
Citation: A. Filla et al., THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (GAA) REPEAT LENGTH AND CLINICAL-FEATURES IN FRIEDREICH ATAXIA, American journal of human genetics, 59(3), 1996, pp. 554-560
HAS SPINOCEREBELLAR ATAXIA TYPE-2 A DISTINCT PHENOTYPE - GENETIC AND CLINICAL-STUDY OF AN ITALIAN FAMILY
Authors: FILLA A DEMICHELE G BANFI S SANTORO L PERRETTI A CAVALCANTI F PIANESE L CASTALDO I BARBIERI F CAMPANELLA G COCOZZA S
Citation: A. Filla et al., HAS SPINOCEREBELLAR ATAXIA TYPE-2 A DISTINCT PHENOTYPE - GENETIC AND CLINICAL-STUDY OF AN ITALIAN FAMILY, Neurology, 45(4), 1995, pp. 793-796
THE FRIEDREICH ATAXIA CRITICAL REGION SPANS A 150-KB INTERVAL ON CHROMOSOME 9Q13
Authors: MONTERMINI L RODIUS F PIANESE L MOLTO MD COSSEE M CAMPUZANO V CAVALCANTI F MONTICELLI A PALAU F GYAPAY G WENHERT M ZARA F PATEL PI COCOZZA S KOENIG M PANDOLFO M
Citation: L. Montermini et al., THE FRIEDREICH ATAXIA CRITICAL REGION SPANS A 150-KB INTERVAL ON CHROMOSOME 9Q13, American journal of human genetics, 57(5), 1995, pp. 1061-1067
MOLECULAR-GENETIC STUDIES OF FRIEDREICHS ATAXIA
Authors: MONTERMINI L MOLTO MD ZARA F PATEL PI PIANESE L CAVALCANTI F RODIUS F COCOZZA S KOENIG M PANDOLFO M
Citation: L. Montermini et al., MOLECULAR-GENETIC STUDIES OF FRIEDREICHS ATAXIA, American journal of human genetics, 57(4), 1995, pp. 1139-1139
ISOLATION OF A NEW GENE IN THE FRIEDREICH ATAXIA CANDIDATE REGION ON HUMAN-CHROMOSOME-9 BY CDNA DIRECT SELECTION
Authors: PANDOLFO M PIZZUTI A REDOLFI E MUNARO M DIDONATO S CAVALCANTI F FILLA A MONTICELLI A PIANESE L COCOZZA S
Citation: M. Pandolfo et al., ISOLATION OF A NEW GENE IN THE FRIEDREICH ATAXIA CANDIDATE REGION ON HUMAN-CHROMOSOME-9 BY CDNA DIRECT SELECTION, Biochemical medicine and metabolic biology, 52(2), 1994, pp. 115-119
A GENETIC-POLYMORPHISM OF THE APOLIPOPROTEIN AI-CIII GENE-CLUSTER IS ASSOCIATED WITH CORONARY HEART-DISEASE IN NON-INSULIN-DEPENDENT DIABETES-MELLITUS
Authors: RIGOLI L CUCINOTTA D COCOZZA S DIBENEDETTO A MONTICELLI A ROMANO G FERRARA A PIANESE L RAIMONDO G SQUADRITO G RICCARDI G
Citation: L. Rigoli et al., A GENETIC-POLYMORPHISM OF THE APOLIPOPROTEIN AI-CIII GENE-CLUSTER IS ASSOCIATED WITH CORONARY HEART-DISEASE IN NON-INSULIN-DEPENDENT DIABETES-MELLITUS, Diabetes, nutrition & metabolism, 7(2), 1994, pp. 71-75
LATE-ONSET FRIEDREICHS-DISEASE - CLINICAL-FEATURES AND MAPPING OF MUTATION TO THE FRDA LOCUS
Authors: DEMICHELE G FILLA A CAVALCANTI F DIMAIO L PIANESE L CASTALDO I CALABRESE O MONTICELLI A VARRONE S CAMPANELLA G LEONE M PANDOLFO M COCOZZA S
Citation: G. Demichele et al., LATE-ONSET FRIEDREICHS-DISEASE - CLINICAL-FEATURES AND MAPPING OF MUTATION TO THE FRDA LOCUS, Journal of Neurology, Neurosurgery and Psychiatry, 57(8), 1994, pp. 977-979
LINKAGE DISEQUILIBRIUM BETWEEN FD1-D9S202 HAPLOTYPES AND THE FRIEDREICHS ATAXIA LOCUS IN A CENTRAL-SOUTHERN ITALIAN POPULATION
Authors: PIANESE L COCOZZA S CAMPANELLA G CASTALDO I CAVALCANTI F DEMICHELE G FILLA A MONTICELLI A MUNARO M REDOLFI E VARRONE S PANDOLFO M
Citation: L. Pianese et al., LINKAGE DISEQUILIBRIUM BETWEEN FD1-D9S202 HAPLOTYPES AND THE FRIEDREICHS ATAXIA LOCUS IN A CENTRAL-SOUTHERN ITALIAN POPULATION, Journal of Medical Genetics, 31(2), 1994, pp. 133-135
A DINUCLEOTIDE REPEAT POLYMORPHISM (D9S202) IN THE FRIEDREICHS ATAXIAREGION ON CHROMOSOME-9Q13-Q21.1
Authors: PANDOLFO M MUNARO M COCOZZA S REDOLFI EM PIANESE L CAVALCANTI F MONTICELLI A DIDONATO S
Citation: M. Pandolfo et al., A DINUCLEOTIDE REPEAT POLYMORPHISM (D9S202) IN THE FRIEDREICHS ATAXIAREGION ON CHROMOSOME-9Q13-Q21.1, Human molecular genetics, 2(6), 1993, pp. 822-822
EVIDENCE OF A GENETIC-MARKER ASSOCIATED WITH EARLY-ONSET IN FRIEDREICHS ATAXIA
Authors: COCOZZA S ANTONELLI A CAMPANELLA G CAVALCANTI F DEMICHELE G DIDONATO S FILLA A MONTICELLI A PIANESE L PICCINELLI A PORCELLINI A REDOLFI E VARRONE S PANDOLFO M
Citation: S. Cocozza et al., EVIDENCE OF A GENETIC-MARKER ASSOCIATED WITH EARLY-ONSET IN FRIEDREICHS ATAXIA, Journal of neurology, 240(4), 1993, pp. 254-256
Risultati: 1-18 |