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Results: 1-25 | 26-41
Results: 1-25/41
QUANTITATIVE MAGNETIZATION-TRANSFER IMAGING TO MONITOR EFFICACY OF BONE-MARROW TRANSPLANTATION IN GLOBOID-CELL LEUKODYSTROPHY
Authors: MCGOWAN JC VITE CH WENGER DA WEIL M HASKINS ME
Citation: Jc. Mcgowan et al., QUANTITATIVE MAGNETIZATION-TRANSFER IMAGING TO MONITOR EFFICACY OF BONE-MARROW TRANSPLANTATION IN GLOBOID-CELL LEUKODYSTROPHY, Radiology, 209P, 1998, pp. 929-929
HEMATOPOIETIC STEM-CELL TRANSPLANTATION IN GLOBOID-CELL LEUKODYSTROPHY
Authors: KRIVIT W SHAPIRO EG PETERS C WAGNER JE CORNU G KURTZBERG J WENGER DA KOLODNY EH VANIER MT LOES DJ DUSENBERY K LOCKMAN LA
Citation: W. Krivit et al., HEMATOPOIETIC STEM-CELL TRANSPLANTATION IN GLOBOID-CELL LEUKODYSTROPHY, The New England journal of medicine, 338(16), 1998, pp. 1119-1126
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
MRI AND ELECTROPHYSIOLOGICAL ABNORMALITIES IN A CASE OF CANINE GLOBOID-CELL LEUKODYSTROPHY
Authors: COZZI F VITE CH WENGER DA VICTORIA T HASKINS ME
Citation: F. Cozzi et al., MRI AND ELECTROPHYSIOLOGICAL ABNORMALITIES IN A CASE OF CANINE GLOBOID-CELL LEUKODYSTROPHY, Journal of Small Animal Practice, 39(8), 1998, pp. 401-405
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
ENGRAFTMENT FOLLOWING IN-UTERO BONE-MARROW TRANSPLANTATION FOR GLOBOID-CELL LEUKODYSTROPHY
Authors: BAMBACH BJ MOSER HW BLAKEMORE K CORSON VL GRIFFIN CA NOGA SJ PERLMAN EJ ZUCKERMAN R WENGER DA JONES RJ
Citation: Bj. Bambach et al., ENGRAFTMENT FOLLOWING IN-UTERO BONE-MARROW TRANSPLANTATION FOR GLOBOID-CELL LEUKODYSTROPHY, Bone marrow transplantation, 19(4), 1997, pp. 399-402
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
URINE GLYCOSAMINOGLYCAN CONCENTRATIONS IN MUCOPOLYSACCHARIDOSIS VI-AFFECTED CATS FOLLOWING BONE-MARROW TRANSPLANTATION OR LEUKOCYTE INFUSION
Authors: DIAL SM BYRNE T HASKINS M GASPER PW ROSE B WENGER DA THRALL MA
Citation: Sm. Dial et al., URINE GLYCOSAMINOGLYCAN CONCENTRATIONS IN MUCOPOLYSACCHARIDOSIS VI-AFFECTED CATS FOLLOWING BONE-MARROW TRANSPLANTATION OR LEUKOCYTE INFUSION, Clinica chimica acta, 263(1), 1997, pp. 1-14
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
CHARACTERIZATION OF 2 ARYLSULFATASE-A MISSENSE MUTATIONS D335V AND T274M CAUSING LATE INFANTILE METACHROMATIC LEUKODYSTROPHY
Authors: HESS B KAFERT S HEINISCH U WENGER DA ZLOTOGORA J GIESELMANN V
Citation: B. Hess et al., CHARACTERIZATION OF 2 ARYLSULFATASE-A MISSENSE MUTATIONS D335V AND T274M CAUSING LATE INFANTILE METACHROMATIC LEUKODYSTROPHY, Human mutation, 7(4), 1996, pp. 311-317
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
METABOLIC ABNORMALITIES IN FELINE NIEMANN-PICK TYPE-C HETEROZYGOTES
Authors: BROWN DE THRALL MA WALKLEY SU WURZELMANN S WENGER DA ALLISON RW JUST CA
Citation: De. Brown et al., METABOLIC ABNORMALITIES IN FELINE NIEMANN-PICK TYPE-C HETEROZYGOTES, Journal of inherited metabolic disease, 19(3), 1996, pp. 319-330
ULTRASTRUCTURAL-STUDY OF THE CENTRAL-NERVOUS-SYSTEM OF THE LONG-EVANSSHAKER RAT
Authors: KWIECIEN JM DELANEY KH WENGER DA DUNCAN ID
Citation: Jm. Kwiecien et al., ULTRASTRUCTURAL-STUDY OF THE CENTRAL-NERVOUS-SYSTEM OF THE LONG-EVANSSHAKER RAT, Journal of neurochemistry, 66, 1996, pp. 35-35
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
FUCOSIDOSIS IN A FAMILY OF AMERICAN-BRED ENGLISH SPRINGER-SPANIELS
Authors: SMITH MO WENGER DA HILL SL MATTHEWS J
Citation: Mo. Smith et al., FUCOSIDOSIS IN A FAMILY OF AMERICAN-BRED ENGLISH SPRINGER-SPANIELS, Journal of the American Veterinary Medical Association, 209(12), 1996, pp. 2088-2090
INFANTILE SIALIC-ACID STORAGE DISEASE - A RARE CAUSE OF CYTOPLASMIC VACUOLATION IN PEDIATRIC-PATIENTS
Authors: HALE LP VANDEVEN CJM WENGER DA BRADFORD WD KAHLER SG
Citation: Lp. Hale et al., INFANTILE SIALIC-ACID STORAGE DISEASE - A RARE CAUSE OF CYTOPLASMIC VACUOLATION IN PEDIATRIC-PATIENTS, PEDIATRIC PATHOLOGY & LABORATORY MEDICINE, 15(3), 1995, pp. 443-453
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
4 NOVEL MUTATIONS IN MUCOPOLYSACCHARIDOSIS TYPE-VII INCLUDING A UNIQUE BASE SUBSTITUTION IN EXON-10 OF THE BETA-GLUCURONIDASE GENE THAT CREATES A NOVEL 5'-SPLICE SITE
Authors: YAMADA S TOMATSU S SLY WS ISLAM R WENGER DA FUKUDA S SUKEGAWA K ORII T
Citation: S. Yamada et al., 4 NOVEL MUTATIONS IN MUCOPOLYSACCHARIDOSIS TYPE-VII INCLUDING A UNIQUE BASE SUBSTITUTION IN EXON-10 OF THE BETA-GLUCURONIDASE GENE THAT CREATES A NOVEL 5'-SPLICE SITE, Human molecular genetics, 4(4), 1995, pp. 651-655
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
Risultati: 1-25 | 26-41