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Results: 1-25 | 26-33
Results: 1-25/33
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
CEREBELLAR-ATAXIA, HYPOGONADISM AND CHORIORETINOPATHY - MOLECULAR ANALYSIS OF AN ITALIAN FAMILY
Authors: RIZZI R CARELLI V MONARI L MOCHI M LIGUORI R SENSI M COCOZZA S FILLA A MONTAGNA P
Citation: R. Rizzi et al., CEREBELLAR-ATAXIA, HYPOGONADISM AND CHORIORETINOPATHY - MOLECULAR ANALYSIS OF AN ITALIAN FAMILY, Italian journal of neurological sciences, 19(1), 1998, pp. 41-44
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
SPASTIC PARAPLEGIA AND OXPHOS IMPAIRMENT CAUSED BY MUTATIONS IN PARAPLEGIN, A NUCLEAR-ENCODED MITOCHONDRIAL METALLOPROTEASE
Authors: CASARI G DEFUSCO M CIARMATORI S ZEVIANI M MORA M FERNANDEZ P DEMICHELE G FILLA A COCOZZA S MARCONI R DURR A FONTAINE B BALLABIO A
Citation: G. Casari et al., SPASTIC PARAPLEGIA AND OXPHOS IMPAIRMENT CAUSED BY MUTATIONS IN PARAPLEGIN, A NUCLEAR-ENCODED MITOCHONDRIAL METALLOPROTEASE, Cell, 93(6), 1998, pp. 973-983
SCA2 IS THE COMMONEST AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA IN SOUTHERN ITALY - A CLINICAL AND MOLECULAR STUDY IN 30 FAMILIES
Authors: FILLA A DEMICHELE G SANTORO L CALABRESE O CASTALDO I GIUFFRIDA S SERLENGA L SCALA R RESTIVO D COPPOLA G CARUSO G COCOZZA S
Citation: A. Filla et al., SCA2 IS THE COMMONEST AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA IN SOUTHERN ITALY - A CLINICAL AND MOLECULAR STUDY IN 30 FAMILIES, Neurology, 50(4), 1998, pp. 3117-3117
A NEW LOCUS FOR AUTOSOMAL RECESSIVE HEREDITARY SPASTIC PARAPLEGIA MAPS TO CHROMOSOME 16Q24.3
Authors: DEMICHELE G DEFUSCO M CAVALCANTI F FILLA A MARCONI R VOLPE G MONTICELLI A BALLABIO A CASARI G COCOZZA S
Citation: G. Demichele et al., A NEW LOCUS FOR AUTOSOMAL RECESSIVE HEREDITARY SPASTIC PARAPLEGIA MAPS TO CHROMOSOME 16Q24.3, American journal of human genetics, 63(1), 1998, pp. 135-139
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
GENETIC ABNORMALITIES IN FRIEDREICHS ATAXIA
Authors: FILLA A DEMICHELE G COCOZZA S
Citation: A. Filla et al., GENETIC ABNORMALITIES IN FRIEDREICHS ATAXIA, The New England journal of medicine, 336(14), 1997, pp. 1021-1022
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
CHILDHOOD-ONSET OF FRIEDREICH ATAXIA - A CLINICAL AND GENETIC-STUDY OF 36 CASES
Authors: DEMICHELE G DIMAIO L FILLA A MAJELLO M COCOZZA S CAVALCANTI F MIRANTE E CAMPANELLA G
Citation: G. Demichele et al., CHILDHOOD-ONSET OF FRIEDREICH ATAXIA - A CLINICAL AND GENETIC-STUDY OF 36 CASES, Neuropediatrics, 27(1), 1996, pp. 3-7
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
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - MULTIMODAL ELECTROPHYSIOLOGICAL STUDY AND COMPARISON BETWEEN SCA1 AND SCA2 PATIENTS
Authors: PERRETTI A SANTORO L LANZILLO B FILLA A DEMICHELE G BARBIERI F MARTINO G RAGNO M COCOZZA S CARUSO G
Citation: A. Perretti et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - MULTIMODAL ELECTROPHYSIOLOGICAL STUDY AND COMPARISON BETWEEN SCA1 AND SCA2 PATIENTS, Journal of the neurological sciences, 142(1-2), 1996, pp. 45-53
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - CLINICAL AND MOLECULAR STUDY IN 36 ITALIAN FAMILIES INCLUDING A COMPARISON BETWEEN SCA1 AND SCA2 PHENOTYPES
Authors: FILLA A DEMICHELE G CAMPANELLA G PERRETTI A SANTORO L SERLENGA L RAGNO M CALABRESE O CASTALDO I DEJOANNA G COCOZZA S
Citation: A. Filla et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - CLINICAL AND MOLECULAR STUDY IN 36 ITALIAN FAMILIES INCLUDING A COMPARISON BETWEEN SCA1 AND SCA2 PHENOTYPES, Journal of the neurological sciences, 142(1-2), 1996, pp. 140-147
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
EARLY-ONSET ATAXIA WITH CARDIOMYOPATHY AND RETAINED TENDON REFLEXES MAPS TO THE FRIEDREICHS ATAXIA LOCUS ON CHROMOSOME 9Q
Authors: PALAU F DEMICHELE G VILCHEZ JJ PANDOLFO M MONROS E COCOZZA S SMEYERS P LOPEZARLANDIS J CAMPANELLA G DIDONATO S FILLA A
Citation: F. Palau et al., EARLY-ONSET ATAXIA WITH CARDIOMYOPATHY AND RETAINED TENDON REFLEXES MAPS TO THE FRIEDREICHS ATAXIA LOCUS ON CHROMOSOME 9Q, Annals of neurology, 37(3), 1995, pp. 359-362
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
EXTRACORONARY ATHEROSCLEROSIS AND GENETIC-VARIANTS OF APOLIPOPROTEIN AI-CIII CLUSTER IN MYOCARDIAL-INFARCTION SURVIVORS FROM SOUTHERN ITALY
Authors: DELORENZO F MONTICELLI A COCOZZA S DESIMONE B RUBBA P
Citation: F. Delorenzo et al., EXTRACORONARY ATHEROSCLEROSIS AND GENETIC-VARIANTS OF APOLIPOPROTEIN AI-CIII CLUSTER IN MYOCARDIAL-INFARCTION SURVIVORS FROM SOUTHERN ITALY, The Clinical investigator, 72(6), 1994, pp. 435-441
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
Risultati: 1-25 | 26-33