Authors:
GIESELMANN V
MATZNER U
HESS B
LULLMANNRAUCH R
COENEN R
HARTMANN D
DHOOGE R
DEDEYN P
NAGELS G
Citation: V. Gieselmann et al., METACHROMATIC LEUKODYSTROPHY - MOLECULAR-GENETICS AND AN ANIMAL-MODEL, Journal of inherited metabolic disease, 21(5), 1998, pp. 564-574
Authors:
SCHLUFF P
FLOTTRAHMEL B
GIESELMANN V
ZIMMER P
DAS A
ULLRICH K
Citation: P. Schluff et al., LOCALIZATION OF RECEPTORS FOR ENDOCYTOSIS OF LYSOSOMAL-ENZYMES ON DIFFERENT BRAIN-CELLS, Journal of inherited metabolic disease, 21(3), 1998, pp. 313-317
Authors:
LUKATELA G
KRAUSS N
THEIS K
SELMER T
GIESELMANN V
VONFIGURA K
SAENGER W
Citation: G. Lukatela et al., CRYSTAL-STRUCTURE OF HUMAN ARYLSULFATASE-A - THE ALDEHYDE FUNCTION AND THE METAL-ION AT THE ACTIVE-SITE SUGGEST A NOVEL MECHANISM FOR SULFATE ESTER HYDROLYSIS, Biochemistry, 37(11), 1998, pp. 3654-3664
Authors:
GRUBESIC Z
ZIVANOVIC P
ZAVOREO I
KRACUN I
GIESELMANN V
Citation: Z. Grubesic et al., GENETIC DETERMINATION OF ARYLSULFATASE A (ASA) IN LEUKOCYTES OF CHILDREN WITH CEREBRAL-PALSY, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 413-413
Authors:
BERGER J
LOSCHL B
BERNHEIMER H
LUGOWSKA A
TYLKISZYMANSKA A
GIESELMANN V
MOLZER B
Citation: J. Berger et al., OCCURRENCE, DISTRIBUTION, AND PHENOTYPE OF ARYLSULFATASE A MUTATIONS IN PATIENTS WITH METACHROMATIC LEUKODYSTROPHY, American journal of medical genetics, 69(3), 1997, pp. 335-340
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
Citation: V. Gieselmann, A PATIENT WITH AN UNUSUAL FORM OF METACHROMATIC LEUKODYSTROPHY - MOLECULAR GENETIC STUDIES, Molecular and chemical neuropathology, 27(1), 1996, pp. 64-65
Citation: V. Gieselmann, STUDIES ON THE GENERATION OF AN ANIMAL-MODEL FOR METACHROMATIC LEUKODYSTROPHY, Molecular and chemical neuropathology, 27(1), 1996, pp. 65-66
Authors:
HESS B
SAFTIG P
HARTMANN D
COENEN R
LULLMANNRAUCH R
GOEBEL HH
EVERS M
VONFIGURA K
DHOOGE R
NAGELS G
DEDEYN P
PETERS C
GIESELMANN V
Citation: B. Hess et al., PHENOTYPE OF ARYLSULFATASE A-DEFICIENT MICE - RELATIONSHIP TO HUMAN METACHROMATIC LEUKODYSTROPHY, Proceedings of the National Academy of Sciences of the United Statesof America, 93(25), 1996, pp. 14821-14826
Authors:
BERGER J
LOSCHL B
BERNHEIMER H
LUGOWSKA A
TYLKISZYMANSKA A
GIESELMANN V
MOLZER B
Citation: J. Berger et al., METACHROMATIC LEUKODYSTROPHY - NEW INSIGHTS INTO OCCURRENCE, DISTRIBUTION, AND PHENOTYPE RELATIONS OF ARYLSULFATASE-A MUTATIONS, Journal of neurochemistry, 66, 1996, pp. 91-91
Citation: J. Zlotogora et al., MULTIPLE MUTATIONS IN A SPECIFIC GENE IN A SMALL GEOGRAPHIC AREA - A COMMON PHENOMENON, American journal of human genetics, 58(1), 1996, pp. 241-243
Authors:
ZLOTOGORA J
BACH G
BOSENBERG C
BARAK Y
VONFIGURA K
GIESELMANN V
Citation: J. Zlotogora et al., MOLECULAR-BASIS OF LATE INFANTILE METACHROMATIC LEUKODYSTROPHY IN THEHABBANITE JEWS, Human mutation, 5(2), 1995, pp. 137-143
Authors:
KAFERT S
HEINISCH U
ZLOTOGORA J
GIESELMANN V
Citation: S. Kafert et al., A MISSENSE MUTATION P136L IN THE ARYLSULFATASE-A GENE CAUSES INSTABILITY AND LOSS OF ACTIVITY OF THE MUTANT ENZYME, Human genetics, 95(2), 1995, pp. 201-204
Authors:
YEAGER AM
MOSER HW
FORTE KJ
GIESELMANN V
NATOWICZ M
MORRISON LA
THOMPSON MG
PALLEY T
Citation: Am. Yeager et al., ALLOGENEIC BONE-MARROW TRANSPLANTATION PROVIDES BIOCHEMICAL IMPROVEMENT AND STABILIZES THE NEUROCOGNITIVE STATUS IN THE ADULT FORM OF METACHROMATIC LEUKODYSTROPHY, Blood, 86(10), 1995, pp. 3884-3884
Authors:
HEINISCH U
ZLOTOGORA J
KAFERT S
GIESELMANN V
Citation: U. Heinisch et al., MULTIPLE MUTATIONS ARE RESPONSIBLE FOR THE HIGH-FREQUENCY OF METACHROMATIC LEUKODYSTROPHY IN A SMALL GEOGRAPHIC AREA, American journal of human genetics, 56(1), 1995, pp. 51-57
Authors:
ZLOTOGORA J
FURMANSHAHARABANI Y
GOLDENFUM S
WINCHESTER B
VONFIGURA K
GIESELMANN V
Citation: J. Zlotogora et al., ARYLSULFATASE-A PSEUDODEFICIENCY - A COMMON POLYMORPHISM WHICH IS ASSOCIATED WITH A UNIQUE HAPLOTYPE, American journal of medical genetics, 52(2), 1994, pp. 146-150
Citation: Jm. Penzien et al., ADULT FORM OF METACHROMATIC LEUKODYSTROPH Y WITH PREDOMINANTLY PSYCHOTIC PRESENTATION, Nervenarzt, 65(1), 1994, pp. 73-73