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Results: 1-16 |
Results: 16
MOLECULAR ANALYSIS OF THE GENE CACNA1A - REFINED MAPPING OF THE CONTAINING REGION AND SCREENING FOR MUTATIONS IN EA2
Authors: TRETTEL F MANTUANO E VENEZIANO L SABBADINI G OLSEN A OPHOFF RA FRANTS RR JODICE C FRONTALI M
Citation: F. Trettel et al., MOLECULAR ANALYSIS OF THE GENE CACNA1A - REFINED MAPPING OF THE CONTAINING REGION AND SCREENING FOR MUTATIONS IN EA2, European journal of human genetics, 6, 1998, pp. 4186-4186
LOCALIZATION AND GENOMIC STRUCTURE OF HUMAN DEOXYHYPUSINE SYNTHASE GENE ON CHROMOSOME 19P13.2 DISTAL 19P13.1
Authors: MANTUANO E TRETTEL F OLSEN AS LENNON G FRONTALI M JODICE C
Citation: E. Mantuano et al., LOCALIZATION AND GENOMIC STRUCTURE OF HUMAN DEOXYHYPUSINE SYNTHASE GENE ON CHROMOSOME 19P13.2 DISTAL 19P13.1, Gene, 215(1), 1998, pp. 153-157
EPISODIC ATAXIA TYPE-2 (EA2) AND SPINOCEREBELLAR ATAXIA TYPE-6 (SCA6)DUE TO CAG REPEAT EXPANSION IN THE CACNA1A GENE ON CHROMOSOME 19P
Authors: JODICE C MANTUANO E VENEZIANO L TRETTEL F SABBADINI G CALANDRIELLO L FRANCIA A SPADARO M PIERELLI F SALVI F OPHOFF RA FRANTS RR FRONTALI M
Citation: C. Jodice et al., EPISODIC ATAXIA TYPE-2 (EA2) AND SPINOCEREBELLAR ATAXIA TYPE-6 (SCA6)DUE TO CAG REPEAT EXPANSION IN THE CACNA1A GENE ON CHROMOSOME 19P, Human molecular genetics, 6(11), 1997, pp. 1973-1978
CHARACTERIZATION OF A SMALL FAMILY (CAIII) OF MICROSATELLITE-CONTAINING SEQUENCES WITH X-Y HOMOLOGY
Authors: MALASPINA P CIMINELLI BM VIGGIANO L JODICE C CRUCIANI F SANTOLAMAZZA P SELLITTO D SCOZZARI R TERRENATO L ROCCHI M NOVELLETTO A
Citation: P. Malaspina et al., CHARACTERIZATION OF A SMALL FAMILY (CAIII) OF MICROSATELLITE-CONTAINING SEQUENCES WITH X-Y HOMOLOGY, Journal of molecular evolution, 44(6), 1997, pp. 652-659
ACETAZOLAMIDE-RESPONSIVE EPISODIC ATAXIA IN AN ITALIAN FAMILY REFINESGENE-MAPPING ON CHROMOSOME 19P13
Authors: CALANDRIELLO L VENEZIANO L FRANCIA A SABBADINI G COLONNESE C MANTUANO E JODICE C TRETTEL F VIVIANI P MANFREDI M FRONTALI M
Citation: L. Calandriello et al., ACETAZOLAMIDE-RESPONSIVE EPISODIC ATAXIA IN AN ITALIAN FAMILY REFINESGENE-MAPPING ON CHROMOSOME 19P13, Brain, 120, 1997, pp. 805-812
POPULATION VARIATION ANALYSIS AT 9 LOCI CONTAINING EXPRESSED TRINUCLEOTIDE REPEATS
Authors: JODICE C GIOVANNONE B CALABRESI V BELLOCCHI M TERRENATO L NOVELLETTO A
Citation: C. Jodice et al., POPULATION VARIATION ANALYSIS AT 9 LOCI CONTAINING EXPRESSED TRINUCLEOTIDE REPEATS, Annals of Human Genetics, 61, 1997, pp. 425-438
ORDERING OF 44 GENETIC-MARKERS IN THE 6P22 CYTOGENETIC BAND
Authors: TRETTEL F MALASPINA P BLASI P JODICE C NOVELLETTO A SABBADINI G VENEZIANO L FRONTALI M TERRENATO L
Citation: F. Trettel et al., ORDERING OF 44 GENETIC-MARKERS IN THE 6P22 CYTOGENETIC BAND, DNA sequence, 7(1), 1996, pp. 51-52
CONSTRUCTION OF A YAC CONTIG COVERING HUMAN-CHROMOSOME 6P22
Authors: MALASPINA P ROETTO A TRETTEL F JODICE C BLASI P FRONTALI M CARELLA M FRANCO B CAMASCHELLA C NOVELLETO A
Citation: P. Malaspina et al., CONSTRUCTION OF A YAC CONTIG COVERING HUMAN-CHROMOSOME 6P22, Genomics, 36(3), 1996, pp. 399-407
GENETIC FITNESS IN HUNTINGTONS-DISEASE AND SPINOCEREBELLAR ATAXIA-1 -A POPULATION-GENETICS MODEL FOR CAG REPEAT EXPANSIONS
Authors: FRONTALI M SABBADINI G NOVELLETTO A JODICE C NASO F SPADARO M GIUNTI P JACOPINI AG VENEZIANO L MANTUANO E MALASPINA P ULIZZI L BRICE A DURR A TERRENATO L
Citation: M. Frontali et al., GENETIC FITNESS IN HUNTINGTONS-DISEASE AND SPINOCEREBELLAR ATAXIA-1 -A POPULATION-GENETICS MODEL FOR CAG REPEAT EXPANSIONS, Annals of Human Genetics, 60, 1996, pp. 423-435
RECURRENT SIMPLE TANDEM REPEAT MUTATIONS DURING HUMAN Y-CHROMOSOME RADIATION IN CAUCASIAN SUBPOPULATIONS
Authors: CIMINELLI BM POMPEI F MALASPINA P HAMMER M PERSICHETTI F PIGNATTI P PALENA A ANAGNOU N GUANTI G JODICE C TERRENATO L NOVELLETTO A
Citation: Bm. Ciminelli et al., RECURRENT SIMPLE TANDEM REPEAT MUTATIONS DURING HUMAN Y-CHROMOSOME RADIATION IN CAUCASIAN SUBPOPULATIONS, Journal of molecular evolution, 41(6), 1995, pp. 966-973
ALLELE AND HAPLOTYPE FREQUENCY-DISTRIBUTION OF THE ECORI, RSAI, AND MSPI COL1A2 RFLPS AMONG VARIOUS HUMAN-POPULATIONS
Authors: PEPE G RICKARDS O JODICE C MODIANO G
Citation: G. Pepe et al., ALLELE AND HAPLOTYPE FREQUENCY-DISTRIBUTION OF THE ECORI, RSAI, AND MSPI COL1A2 RFLPS AMONG VARIOUS HUMAN-POPULATIONS, Human biology, 67(6), 1995, pp. 905-920
TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS
Authors: HARDING AE GIUNTI P SWEENEY MG SPADARO M JODICE C NOVELLETTO A MALASPINA P FRONTALI M
Citation: Ae. Harding et al., TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS, Annals of neurology, 36(2), 1994, pp. 260-260
THE TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS
Authors: GIUNTI P SWEENEY MG SPADARO M JODICE C NOVELLETTO A MALASPINA P FRONTALI M HARDING AE
Citation: P. Giunti et al., THE TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS, Brain, 117, 1994, pp. 645-649
EFFECT OF TRINUCLEOTIDE REPEAT LENGTH AND PARENTAL SEX ON PHENOTYPIC VARIATION IN SPINOCEREBELLAR ATAXIA-I
Authors: JODICE C MALASPINA P PERSICHETTI F NOVELLETTO A SPADARO M GIUNTI P MOROCUTTI C TERRENATO L HARDING AE FRONTALI M
Citation: C. Jodice et al., EFFECT OF TRINUCLEOTIDE REPEAT LENGTH AND PARENTAL SEX ON PHENOTYPIC VARIATION IN SPINOCEREBELLAR ATAXIA-I, American journal of human genetics, 54(6), 1994, pp. 959-965
THE GENE FOR SPINAL CEREBELLAR ATAXIA-1 (SCA1) IS FLANKED BY 2 CLOSELY LINKED HIGHLY POLYMORPHIC MICROSATELLITE LOCI
Authors: JODICE C FRONTALI M PERSICHETTI F NOVELLETTO A PANDOLFO M SPADARO M GIUNTI P SCHINAIA G LULLI P MALASPINA P PLASMATI R TOLA R ANTONELLI A DIDONATO S MOROCUTTI C WEISSENBACH J CANN HM TERRENATO L
Citation: C. Jodice et al., THE GENE FOR SPINAL CEREBELLAR ATAXIA-1 (SCA1) IS FLANKED BY 2 CLOSELY LINKED HIGHLY POLYMORPHIC MICROSATELLITE LOCI, Human molecular genetics, 2(9), 1993, pp. 1383-1387
THE GENE FOR AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA1) MAPS CENTROMERIC TO D6S89 AND SHOWS NO RECOMBINATION, IN 9 LARGE KINDREDS, WITH A DINUCLEOTIDE REPEAT AT THE AM10 LOCUS
Authors: KWIATKOWSKI TJ ORR HT BANFI S MCCALL AE JODICE C PERSICHETTI F NOVELLETTO A LEBORGNEDEMARQUOY F DUVICK LA FRONTALI M SUBRAMONY SH BEAUDET AL TERRENATO L ZOGHBI HY RANUM LPW
Citation: Tj. Kwiatkowski et al., THE GENE FOR AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA1) MAPS CENTROMERIC TO D6S89 AND SHOWS NO RECOMBINATION, IN 9 LARGE KINDREDS, WITH A DINUCLEOTIDE REPEAT AT THE AM10 LOCUS, American journal of human genetics, 53(2), 1993, pp. 391-400
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