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Results: 1-21 |
Results: 21
GENETIC GALACTOCEREBROSIDASE DEFICIENCY (GLOBOID-CELL LEUKODYSTROPHY,KRABBE-DISEASE) IN RHESUS-MONKEYS (MACACA-MULATTA)
Authors: BASKIN GB RATTERREE M DAVISON BB FALKENSTEIN KP CLARKE MR ENGLAND JD VANIER MT LUZI P RAFI MA WENGER DA
Citation: Gb. Baskin et al., GENETIC GALACTOCEREBROSIDASE DEFICIENCY (GLOBOID-CELL LEUKODYSTROPHY,KRABBE-DISEASE) IN RHESUS-MONKEYS (MACACA-MULATTA), Laboratory animal science, 48(5), 1998, pp. 476-482
ANALYSIS OF THE 5'-FLANKING REGION OF THE HUMAN GALACTOCEREBROSIDASE (GALC) GENE
Authors: LUZI P VICTORIA T RAFI MA WENGER DA
Citation: P. Luzi et al., ANALYSIS OF THE 5'-FLANKING REGION OF THE HUMAN GALACTOCEREBROSIDASE (GALC) GENE, Biochemical and molecular medicine, 62(2), 1997, pp. 159-164
MOLECULAR-GENETICS OF KRABBE-DISEASE (GLOBOID-CELL LEUKODYSTROPHY) - DIAGNOSTIC AND CLINICAL IMPLICATIONS
Authors: WENGER DA RAFI MA LUZI P
Citation: Da. Wenger et al., MOLECULAR-GENETICS OF KRABBE-DISEASE (GLOBOID-CELL LEUKODYSTROPHY) - DIAGNOSTIC AND CLINICAL IMPLICATIONS, Human mutation, 10(4), 1997, pp. 268-279
CHARACTERIZATION OF THE RHESUS-MONKEY GALACTOCEREBROSIDASE (GALC) CDNA AND GENE AND IDENTIFICATION OF THE MUTATION CAUSING GLOBOID-CELL LEUKODYSTROPHY (KRABBE DISEASE) IN THIS PRIMATE
Authors: LUZI P RAFI MA VICTORIA T BASKIN GB WENGER DA
Citation: P. Luzi et al., CHARACTERIZATION OF THE RHESUS-MONKEY GALACTOCEREBROSIDASE (GALC) CDNA AND GENE AND IDENTIFICATION OF THE MUTATION CAUSING GLOBOID-CELL LEUKODYSTROPHY (KRABBE DISEASE) IN THIS PRIMATE, Genomics, 42(2), 1997, pp. 319-324
PREVALENT MUTATIONS IN THE GALC GENE OF PATIENTS WITH KRABBE-DISEASE OF DUTCH AND OTHER EUROPEAN ORIGIN
Authors: KLEIJER WJ KEULEMANS JLM VANDERKRAAN M GEILEN GG VANDERHELM RM RAFI MA LUZI P WENGER DA HALLEY DJJ VANDIGGELEN OP
Citation: Wj. Kleijer et al., PREVALENT MUTATIONS IN THE GALC GENE OF PATIENTS WITH KRABBE-DISEASE OF DUTCH AND OTHER EUROPEAN ORIGIN, Journal of inherited metabolic disease, 20(4), 1997, pp. 587-594
RETROVIRAL VECTOR-MEDIATED TRANSFER OF THE GALACTOCEREBROSIDASE (GALC) CDNA LEADS TO OVEREXPRESSION AND TRANSFER OF GALC ACTIVITY TO NEIGHBORING CELLS
Authors: RAFI MA FUGARO J AMINI S LUZI P DEGALA G VICTORIA T DUBELL C SHAHINFAR M WENGER DA
Citation: Ma. Rafi et al., RETROVIRAL VECTOR-MEDIATED TRANSFER OF THE GALACTOCEREBROSIDASE (GALC) CDNA LEADS TO OVEREXPRESSION AND TRANSFER OF GALC ACTIVITY TO NEIGHBORING CELLS, Biochemical and molecular medicine, 58(2), 1996, pp. 142-150
CLONING OF THE CANINE GALC CDNA AND IDENTIFICATION OF THE MUTATION CAUSING GLOBOID-CELL LEUKODYSTROPHY IN WEST HIGHLAND WHITE AND CAIRN TERRIERS
Authors: VICTORIA T RAFI MA WENGER DA
Citation: T. Victoria et al., CLONING OF THE CANINE GALC CDNA AND IDENTIFICATION OF THE MUTATION CAUSING GLOBOID-CELL LEUKODYSTROPHY IN WEST HIGHLAND WHITE AND CAIRN TERRIERS, Genomics, 33(3), 1996, pp. 457-462
MULTIPLE MUTATIONS IN THE GALC GENE IN A PATIENT WITH ADULT-ONSET KRABBE DISEASE
Authors: LUZI P RAFI MA WENGER DA
Citation: P. Luzi et al., MULTIPLE MUTATIONS IN THE GALC GENE IN A PATIENT WITH ADULT-ONSET KRABBE DISEASE, Annals of neurology, 40(1), 1996, pp. 116-119
2 DIFFERENT MUTATIONS ARE RESPONSIBLE FOR KRABBE DISEASE IN THE DRUZEAND MOSLEM-ARAB POPULATIONS IN ISRAEL
Authors: RAFI MA LUZI P ZLOTOGORA J WENGER DA
Citation: Ma. Rafi et al., 2 DIFFERENT MUTATIONS ARE RESPONSIBLE FOR KRABBE DISEASE IN THE DRUZEAND MOSLEM-ARAB POPULATIONS IN ISRAEL, Human genetics, 97(3), 1996, pp. 304-308
IDENTIFICATION OF THE MUTATIONS IN THE GALC GENE CAUSING GLOBOID-CELLLEUKODYSTROPHY IN CAIRN AND WESTHIGHLAND TERRIERS AND THE TWITCHER MOUSE
Authors: WENGER DA VICTORIA T RAFI MA LUZI P DEGALA G
Citation: Da. Wenger et al., IDENTIFICATION OF THE MUTATIONS IN THE GALC GENE CAUSING GLOBOID-CELLLEUKODYSTROPHY IN CAIRN AND WESTHIGHLAND TERRIERS AND THE TWITCHER MOUSE, Journal of neurochemistry, 66, 1996, pp. 35-35
A LARGE DELETION TOGETHER WITH A POINT MUTATION IN THE GALC GENE IS ACOMMON MUTANT ALLELE IN PATIENTS WITH INFANTILE KRABBE DISEASE
Authors: RAFI MA LUZI P CHEN YQ WENGER DA
Citation: Ma. Rafi et al., A LARGE DELETION TOGETHER WITH A POINT MUTATION IN THE GALC GENE IS ACOMMON MUTANT ALLELE IN PATIENTS WITH INFANTILE KRABBE DISEASE, Human molecular genetics, 4(8), 1995, pp. 1285-1289
CHARACTERIZATION OF THE LARGE DELETION IN THE GALC GENE FOUND IN PATIENTS WITH KRABBE DISEASE
Authors: LUZI P RAFI MA WENGER DA
Citation: P. Luzi et al., CHARACTERIZATION OF THE LARGE DELETION IN THE GALC GENE FOUND IN PATIENTS WITH KRABBE DISEASE, Human molecular genetics, 4(12), 1995, pp. 2335-2338
STRUCTURE AND ORGANIZATION OF THE HUMAN GALACTOCEREBROSIDASE (GALC) GENE
Authors: LUZI P RAFI MA WENGER DA
Citation: P. Luzi et al., STRUCTURE AND ORGANIZATION OF THE HUMAN GALACTOCEREBROSIDASE (GALC) GENE, Genomics, 26(2), 1995, pp. 407-409
METACHROMATIC LEUKODYSTROPHY AMONG SOUTHERN ALASKAN ESKIMOS - MOLECULAR AND GENETIC-STUDIES
Authors: PASTORSOLER NM SCHERTZ EM RAFI MA DEGALA G WENGER DA
Citation: Nm. Pastorsoler et al., METACHROMATIC LEUKODYSTROPHY AMONG SOUTHERN ALASKAN ESKIMOS - MOLECULAR AND GENETIC-STUDIES, Journal of inherited metabolic disease, 18(3), 1995, pp. 326-332
KRABBE DISEASE - CORRELATIONS BETWEEN MUTATIONS IN THE GALC GENE, GALC ACTIVITY AND CLINICAL PRESENTATION
Authors: LUZI P RAFI MA WENGER DA
Citation: P. Luzi et al., KRABBE DISEASE - CORRELATIONS BETWEEN MUTATIONS IN THE GALC GENE, GALC ACTIVITY AND CLINICAL PRESENTATION, American journal of human genetics, 57(4), 1995, pp. 1420-1420
METACHROMATIC LEUKODYSTROPHY IN THE NAVAJO INDIAN POPULATION - A SPLICE-SITE MUTATION IN INTRON-4 OF THE ARYLSULFATASE-A GENE
Authors: PASTORSOLER NM RAFI MA HOFFMAN JD HU D WENGER DA
Citation: Nm. Pastorsoler et al., METACHROMATIC LEUKODYSTROPHY IN THE NAVAJO INDIAN POPULATION - A SPLICE-SITE MUTATION IN INTRON-4 OF THE ARYLSULFATASE-A GENE, Human mutation, 4(3), 1994, pp. 199-207
REGIONAL MAPPING OF THE HUMAN GALACTOCEREBROSIDASE GENE (GALC) TO 14Q31 BY IN-SITU HYBRIDIZATION
Authors: CANNIZZARO LA CHEN YQ RAFI MA WENGER DA
Citation: La. Cannizzaro et al., REGIONAL MAPPING OF THE HUMAN GALACTOCEREBROSIDASE GENE (GALC) TO 14Q31 BY IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 66(4), 1994, pp. 244-245
MUTATIONS IN THE LYSOSOMAL BETA-GALACTOSIDASE GENE THAT CAUSE THE ADULT FORM OF GMI GANGLIOSIDOSIS
Authors: CHAKRABORTY S RAFI MA WENGER DA
Citation: S. Chakraborty et al., MUTATIONS IN THE LYSOSOMAL BETA-GALACTOSIDASE GENE THAT CAUSE THE ADULT FORM OF GMI GANGLIOSIDOSIS, American journal of human genetics, 54(6), 1994, pp. 1004-1013
CLONING AND EXPRESSION OF CDNA-ENCODING HUMAN GALACTOCEREBROSIDASE, THE ENZYME-DEFICIENT IN GLOBOID-CELL LEUKODYSTROPHY
Authors: CHEN YQ RAFI MA DEGALA G WENGER DA
Citation: Yq. Chen et al., CLONING AND EXPRESSION OF CDNA-ENCODING HUMAN GALACTOCEREBROSIDASE, THE ENZYME-DEFICIENT IN GLOBOID-CELL LEUKODYSTROPHY, Human molecular genetics, 2(11), 1993, pp. 1841-1845
CLONING OF THE CDNA RESPONSIBLE FOR GLOBOID-CELL LEUKODYSTROPHY IN HUMANS AND SEVERAL ANIMAL SPECIES
Authors: CHEN Y RAFI MA DEGALA G WENGER DA
Citation: Y. Chen et al., CLONING OF THE CDNA RESPONSIBLE FOR GLOBOID-CELL LEUKODYSTROPHY IN HUMANS AND SEVERAL ANIMAL SPECIES, American journal of human genetics, 53(3), 1993, pp. 100-100
METACHROMATIC LEUKODYSTROPHY AMONG THE NAVAJO INDIANS - A STUDY OF THE ARYLSULFATASE-A GENE-MUTATIONS PRESENT IN THIS POPULATION
Authors: PASTORSOLER NM RAFI MA HOFFMAN JD HU D WENGER DA
Citation: Nm. Pastorsoler et al., METACHROMATIC LEUKODYSTROPHY AMONG THE NAVAJO INDIANS - A STUDY OF THE ARYLSULFATASE-A GENE-MUTATIONS PRESENT IN THIS POPULATION, American journal of human genetics, 53(3), 1993, pp. 940-940
Risultati: 1-21 |