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Results: 1-25 | 26-27
Results: 1-25/27
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
PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS (VOL 19, PG 68, 1998)
Authors: MANDICH P JACOPINI G DIMARIA E SABBADINI G ABBRUZZESE G CHIMIRRI F BELLONE E NOVELLETTO A AJMAR F FRONTALI M
Citation: P. Mandich et al., PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS (VOL 19, PG 68, 1998), Italian journal of neurological sciences, 19(3), 1998, pp. 149-149
PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS
Authors: MANDICH P JACOPINI G DIMARIA E SABBADINI G CHIMIRRI F BELLONE E NOVELLETTO A AJMAR F FRONTALI M
Citation: P. Mandich et al., PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS, Italian journal of neurological sciences, 19(2), 1998, pp. 68-74
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
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
PROTON MAGNETIC-RESONANCE SPECTROSCOPY IN AN ITALIAN FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE-1
Authors: MASCALCHI M TOSETTI M PLASMATI R BIANCHI MC TESSA C SALVI F FRONTALI M VALZANIA F BARTOLOZZI C TASSINARI CA
Citation: M. Mascalchi et al., PROTON MAGNETIC-RESONANCE SPECTROSCOPY IN AN ITALIAN FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE-1, Annals of neurology, 43(2), 1998, pp. 244-252
THE ROLE OF THE SCA2 TRINUCLEOTIDE REPEAT EXPANSION IN 89 AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA FAMILIES - FREQUENCY, CLINICAL AND GENETIC CORRELATES
Authors: GIUNTI P SABBADINI G SWEENEY MG DAVIS MB VENEZIANO L MANTUANO E FEDERICO A PLASMATI R FRONTALI M WOOD NW
Citation: P. Giunti et al., THE ROLE OF THE SCA2 TRINUCLEOTIDE REPEAT EXPANSION IN 89 AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA FAMILIES - FREQUENCY, CLINICAL AND GENETIC CORRELATES, Brain, 121, 1998, pp. 459-467
ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN SOMATIC AND SPERM CELL-DNA FROM INTERMEDIATE AND EXPANDED HUNTINGTON-DISEASE GENE CARRIERS
Authors: GIOVANNONE B SABBADINI G DIMAIO L CALABRESE O CASTALDO I FRONTALI M NOVELLETTO A SQUITIERI F
Citation: B. Giovannone et al., ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN SOMATIC AND SPERM CELL-DNA FROM INTERMEDIATE AND EXPANDED HUNTINGTON-DISEASE GENE CARRIERS, Human mutation, 10(6), 1997, pp. 458-464
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
ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN DNA FROM SOMATIC AND GERM-CELLS OF NORMAL, INTERMEDIATE AND EXPANDED HUNTINGTON DISEASE GENE CARRIERS
Authors: SQUITIERI F GIOVANNONE B SABBADINI G FRONTALI M NOVELLETTO A DIMAIO L CALABRESE O CASTALDO I CAMPANELLA G
Citation: F. Squitieri et al., ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN DNA FROM SOMATIC AND GERM-CELLS OF NORMAL, INTERMEDIATE AND EXPANDED HUNTINGTON DISEASE GENE CARRIERS, Neurology, 48(3), 1997, pp. 3075-3075
NON-DYT1 DYSTONIA IN A LARGE ITALIAN FAMILY
Authors: BENTIVOGLIO AR DELGROSSO N ALBANESE A CASSETTA E TONALI P FRONTALI M
Citation: Ar. Bentivoglio et al., NON-DYT1 DYSTONIA IN A LARGE ITALIAN FAMILY, Journal of Neurology, Neurosurgery and Psychiatry, 62(4), 1997, pp. 357-360
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
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
A LARGE ITALIAN FAMILY AFFECTED BY IDIOPATHIC TORSION DYSTONIA WITH COMPLETE PENETRANCE, NOT LINKED TO DYT1
Authors: BENTIVOGLIO AR ALBANESE A DELGROSSO N CASSETTA E ROMIGI A FRONTALI M TONALI P
Citation: Ar. Bentivoglio et al., A LARGE ITALIAN FAMILY AFFECTED BY IDIOPATHIC TORSION DYSTONIA WITH COMPLETE PENETRANCE, NOT LINKED TO DYT1, Neurology, 46(2), 1996, pp. 40001-40001
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
PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS
Authors: RUBINSZTEIN DC LEGGO J COLES R ALMQVIST E BIANCALANA V CASSIMAN JJ CHOTAI K CONNARTY M CRAUFURD D CURTIS A CURTIS D DAVIDSON MJ DIFFER AM DODE C DODGE A FRONTALI M RANEN NG STINE OC SHERR M ABBOTT MH FRANZ ML GRAHAM CA HARPER PS HEDREEN JC JACKSON A KAPLAN JC LOSEKOOT M MACMILLAN JC MORRISON P TROTTIER Y NOVELLETTO A SIMPSON SA THEILMANN J WHITTAKER JL FOLSTEIN SE ROSS CA HAYDEN MR
Citation: Dc. Rubinsztein et al., PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS, American journal of human genetics, 59(1), 1996, pp. 16-22
CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL) - CLINICAL, NEUROIMAGING, PATHOLOGICALAND GENETIC-STUDY OF A LARGE ITALIAN FAMILY
Authors: SABBADINI G FRANCIA A CALANDRIELLO L DIBIASI C TRASIMENI G GUALDI GF PALLADINI G MANFREDI M FRONTALI M
Citation: G. Sabbadini et al., CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL) - CLINICAL, NEUROIMAGING, PATHOLOGICALAND GENETIC-STUDY OF A LARGE ITALIAN FAMILY, Brain, 118, 1995, pp. 207-215
POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE
Authors: NOVELLETTO A PERSICHETTI F SABBADINI G MANDICH P BELLONE E AJMAR F SQUITIERI F CAMPANELLA G BOZZA A MACDONALD ME GUSELLA JF FRONTALI M
Citation: A. Novelletto et al., POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE, Human molecular genetics, 3(7), 1994, pp. 1129-1132
ANALYSIS OF THE TRINUCLEOTIDE REPEAT EXPANSION IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE
Authors: NOVELLETTO A PERSICHETTI F SABBADINI G MANDICH P BELLONE E AJMAR F PERGOLA M DELSENNO L MACDONALD ME GUSELLA JF FRONTALI M
Citation: A. Novelletto et al., ANALYSIS OF THE TRINUCLEOTIDE REPEAT EXPANSION IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE, Human molecular genetics, 3(1), 1994, pp. 93-98
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
TRINUCLEOTIDE REPEAT LENGTH INSTABILITY AND AGE-OF-ONSET IN HUNTINGTONS-DISEASE
Authors: DUYAO M AMBROSE C MYERS R NOVELLETTO A PERSICHETTI F FRONTALI M FOLSTEIN S ROSS C FRANZ M ABBOTT M GRAY J CONNEALLY P YOUNG A PENNEY J HOLLINGSWORTH Z SHOULSON I LAZZARINI A FALEK A KOROSHETZ W SAX D BIRD E VONSATTEL J BONILLA E ALVIR J CONDE JB CHA JH DURE L GOMEZ F RAMOS M SANCHEZRAMOS J SNODGRASS S DEYOUNG M WEXLER N MOSCOWITZ C PENCHASZADEH G MACFARLANE H ANDERSON M JENKINS B SRINIDHI J BARNES G GUSELLA J MACDONALD M
Citation: M. Duyao et al., TRINUCLEOTIDE REPEAT LENGTH INSTABILITY AND AGE-OF-ONSET IN HUNTINGTONS-DISEASE, Nature genetics, 4(4), 1993, pp. 387-392
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
Risultati: 1-25 | 26-27