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Results: 1-25 | 26-34
Results: 1-25/34
DIFFERENT MISSENSE MUTATIONS IN HISTIDINE-108 OF LYSOSOMAL ACID LIPASE CAUSE CHOLESTERYL ESTER STORAGE DISEASE IN UNRELATED COMPOUND HETEROZYGOUS AND HEMIZYGOTIC INDIVIDUALS
Authors: RIES S BUCHLER C SCHINDLER G ASLANIDIS C AMEIS D GASCHE C JUNG N SCHAMBACH A FEHRINGER P VANIER MT BELLI DC GRETEN H SCHMITZ G
Citation: S. Ries et al., DIFFERENT MISSENSE MUTATIONS IN HISTIDINE-108 OF LYSOSOMAL ACID LIPASE CAUSE CHOLESTERYL ESTER STORAGE DISEASE IN UNRELATED COMPOUND HETEROZYGOUS AND HEMIZYGOTIC INDIVIDUALS, Human mutation, 12(1), 1998, pp. 44-51
RECENT ADVANCES IN ELUCIDATING NIEMANN-PICK-C DISEASE
Authors: VANIER MT SUZUKI K
Citation: Mt. Vanier et K. Suzuki, RECENT ADVANCES IN ELUCIDATING NIEMANN-PICK-C DISEASE, Brain pathology, 8(1), 1998, pp. 163-174
EARLY-LETHAL PULMONARY FORM OF NIEMANN-PICK-TYPE-C-DISEASE BELONGING TO A 2ND, RARE GENETIC COMPLEMENTATION GROUP
Authors: SCHOFER O MISCHO B PUSCHEL W HARZER K VANIER MT
Citation: O. Schofer et al., EARLY-LETHAL PULMONARY FORM OF NIEMANN-PICK-TYPE-C-DISEASE BELONGING TO A 2ND, RARE GENETIC COMPLEMENTATION GROUP, European journal of pediatrics, 157(1), 1998, pp. 45-49
NIEMANN-PICK DISEASE TYPE-C AND DEFECTIVE PEROXISOMAL BETA-OXIDATION OF BRANCHED-CHAIN SUBSTRATES
Authors: SEQUEIRA JSS VELLODI A VANIER MT CLAYTON PT
Citation: Jss. Sequeira et al., NIEMANN-PICK DISEASE TYPE-C AND DEFECTIVE PEROXISOMAL BETA-OXIDATION OF BRANCHED-CHAIN SUBSTRATES, Journal of inherited metabolic disease, 21(2), 1998, pp. 149-154
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
BONE-MARROW TRANSPLANTATION IN METACHROMATIC LEUKODYSTROPHY CAUSED BYSAPOSIN-B DEFICIENCY - A CASE-REPORT WITH A 3-YEAR FOLLOW-UP PERIOD
Authors: LANDRIEU P BLANCHE S VANIER MT METRAL S HUSSON B SANDHOFF K FISCHER A
Citation: P. Landrieu et al., BONE-MARROW TRANSPLANTATION IN METACHROMATIC LEUKODYSTROPHY CAUSED BYSAPOSIN-B DEFICIENCY - A CASE-REPORT WITH A 3-YEAR FOLLOW-UP PERIOD, The Journal of pediatrics, 133(1), 1998, pp. 129-132
EXPRESSION OF SPECIFIC TAU EXONS IN NORMAL AND TUMORAL PANCREATIC ACINAR-CELLS
Authors: VANIER MT NEUVILLE P MICHALIK L LAUNAY JF
Citation: Mt. Vanier et al., EXPRESSION OF SPECIFIC TAU EXONS IN NORMAL AND TUMORAL PANCREATIC ACINAR-CELLS, Journal of Cell Science, 111, 1998, pp. 1419-1432
INDUCED MOUSE MODELS OF ABNORMAL SPHINGOLIPID METABOLISM
Authors: SUZUKI K VANIER MT SUZUKI K
Citation: K. Suzuki et al., INDUCED MOUSE MODELS OF ABNORMAL SPHINGOLIPID METABOLISM, Journal of Biochemistry, 124(1), 1998, pp. 8-19
B1 VARIANT OF GM2 GANGLIOSIDOSIS - PATHOLOGICAL AND BIOCHEMICAL-STUDYOF A LATE-ONSET FORM
Authors: MIKOL J LAVERGNESLOVE A LECOZ P GOUTIERES F VANIER MT
Citation: J. Mikol et al., B1 VARIANT OF GM2 GANGLIOSIDOSIS - PATHOLOGICAL AND BIOCHEMICAL-STUDYOF A LATE-ONSET FORM, Brain pathology, 7(4), 1997, pp. 1062-1062
GENERALIZED CNS DISEASE AND MASSIVE G(M1)-GANGLIOSIDE ACCUMULATION INMICE DEFECTIVE IN LYSOSOMAL ACID BETA-GALACTOSIDASE
Authors: HAHN CN MARTIN MD SCHRODER M VANIER MT HARA Y SUZUKI K SUZUKI K DAZZO A
Citation: Cn. Hahn et al., GENERALIZED CNS DISEASE AND MASSIVE G(M1)-GANGLIOSIDE ACCUMULATION INMICE DEFECTIVE IN LYSOSOMAL ACID BETA-GALACTOSIDASE, Human molecular genetics, 6(2), 1997, pp. 205-211
MODULATION OF PROTEIN-KINASE-C BY ENDOGENOUS SPHINGOSINE - INHIBITIONOF PHORBOL DIBUTYRATE BINDING IN NIEMANN-PICK-C FIBROBLASTS
Authors: RODRIGUEZLAFRASSE C ROUSSON R VALLA S ANTIGNAC P LOUISOT P VANIER MT
Citation: C. Rodriguezlafrasse et al., MODULATION OF PROTEIN-KINASE-C BY ENDOGENOUS SPHINGOSINE - INHIBITIONOF PHORBOL DIBUTYRATE BINDING IN NIEMANN-PICK-C FIBROBLASTS, Biochemical journal, 325, 1997, pp. 787-791
PHENOTYPIC AND GENETIC-HETEROGENEITY IN NIEMANN-PICK DISEASE TYPE-C -CURRENT KNOWLEDGE AND PRACTICAL IMPLICATIONS
Authors: VANIER MT
Citation: Mt. Vanier, PHENOTYPIC AND GENETIC-HETEROGENEITY IN NIEMANN-PICK DISEASE TYPE-C -CURRENT KNOWLEDGE AND PRACTICAL IMPLICATIONS, Wiener Klinische Wochenschrift, 109(3), 1997, pp. 68-73
NIEMANN-PICK-C1-DISEASE GENE - HOMOLOGY TO MEDIATORS OF CHOLESTEROL HOMEOSTASIS
Authors: CARSTEA ED MORRIS JA COLEMAN KG LOFTUS SK ZHANG D CUMMINGS C GU J ROSENFELD MA PAVAN WJ KRIZMAN DB NAGLE J POLYMEROPOULOS MH STURLEY SL IOANNOU YA HIGGINS ME COMLY M COONEY A BROWN A KANESKI CR BLANCHETTEMACKIE EJ DWYER NK NEUFELD EB CHANG TY LISCUM L STRAUSS JF OHNO K ZEIGLER M CARMI R SOKOL J MARKIE D ONEILL RR VANDIGGELEN OP ELLEDER M PATTERSON MC BRADY RO VANIER MT PENTCHEV PG TAGLE DA
Citation: Ed. Carstea et al., NIEMANN-PICK-C1-DISEASE GENE - HOMOLOGY TO MEDIATORS OF CHOLESTEROL HOMEOSTASIS, Science, 277(5323), 1997, pp. 228-231
SOLITARY SPASTIC PARAPARESIA REVEALING KR ABBES DISEASE IN AN ADULT
Authors: BATAILLARD M RICHARD P RUMBACH L VANIER MT TRUTTMANN M
Citation: M. Bataillard et al., SOLITARY SPASTIC PARAPARESIA REVEALING KR ABBES DISEASE IN AN ADULT, Revue neurologique, 153(5), 1997, pp. 347-350
ADULT NIEMANN-PICK-DISEASE TYPE-C MIMICKING FEATURES OF MULTIPLE-SCLEROSIS
Authors: GRAU AJ BRANDT T WEISBROD M FORSTING M CANTZ M VANIER MT HARZER K
Citation: Aj. Grau et al., ADULT NIEMANN-PICK-DISEASE TYPE-C MIMICKING FEATURES OF MULTIPLE-SCLEROSIS, Journal of Neurology, Neurosurgery and Psychiatry, 63(4), 1997, pp. 552-552
ADULT-ONSET NIEMANN-PICK TYPE-C DISEASE - CLINICAL, BIOCHEMICAL, AND GENETIC-STUDY
Authors: LOSSOS A SCHLESINGER I OKON E ABRAMSKY O BARGAL R VANIER MT ZEIGLER M
Citation: A. Lossos et al., ADULT-ONSET NIEMANN-PICK TYPE-C DISEASE - CLINICAL, BIOCHEMICAL, AND GENETIC-STUDY, Archives of neurology, 54(12), 1997, pp. 1536-1541
ACCUMULATION OF G(M2) GANGLIOSIDE IN NIEMANN-PICK DISEASE TYPE-C FIBROBLASTS
Authors: YANO T TANIGUCHI M AKABOSHI S VANIER MT TAI T SAKURABA H OHNO K
Citation: T. Yano et al., ACCUMULATION OF G(M2) GANGLIOSIDE IN NIEMANN-PICK DISEASE TYPE-C FIBROBLASTS, Proceedings of the Japan Academy. Series B Physical and biological sciences, 72(10), 1996, pp. 214-219
GENETIC SPHINGOLIPID ACTIVATOR PROTEIN (SAP) DEFICIENCIES IN HUMAN AND A KNOCKOUT MOUSE
Authors: FUJITA N SUZUKI K VANIER MT POPKO B MAEDA N KLEIN A SANDHOFF K NAKAYASU H SUZUKI K
Citation: N. Fujita et al., GENETIC SPHINGOLIPID ACTIVATOR PROTEIN (SAP) DEFICIENCIES IN HUMAN AND A KNOCKOUT MOUSE, Journal of neurochemistry, 66, 1996, pp. 1-1
ANALYSIS OF A SPLICE-SITE MUTATION IN THE SAP-PRECURSOR GENE OF A PATIENT WITH METACHROMATIC LEUKODYSTROPHY
Authors: HENSELER M KLEIN A REBER M VANIER MT LANDRIEU P SANDHOFF K
Citation: M. Henseler et al., ANALYSIS OF A SPLICE-SITE MUTATION IN THE SAP-PRECURSOR GENE OF A PATIENT WITH METACHROMATIC LEUKODYSTROPHY, American journal of human genetics, 58(1), 1996, pp. 65-74
GENETIC-HETEROGENEITY IN NIEMANN-PICK-C-DISEASE - A STUDY USING SOMATIC-CELL HYBRIDIZATION AND LINKAGE ANALYSIS
Authors: VANIER MT DUTHEL S RODRIGUEZLAFRASSE C PENTCHEV P CARSTEA ED
Citation: Mt. Vanier et al., GENETIC-HETEROGENEITY IN NIEMANN-PICK-C-DISEASE - A STUDY USING SOMATIC-CELL HYBRIDIZATION AND LINKAGE ANALYSIS, American journal of human genetics, 58(1), 1996, pp. 118-125
PANCREATIC TAU-RELATED MAPS - BIOCHEMICAL AND IMMUNOFLUORESCENCE ANALYSIS IN A TUMORAL CELL-LINE
Authors: MICHALIK L NEUVILLE P VANIER MT LAUNAY JF
Citation: L. Michalik et al., PANCREATIC TAU-RELATED MAPS - BIOCHEMICAL AND IMMUNOFLUORESCENCE ANALYSIS IN A TUMORAL CELL-LINE, Molecular and cellular biochemistry, 143(2), 1995, pp. 107-112
IN-SITU LOCALIZATION WITH DIGOXIGENIN-LABELED PROBES OF TAU-RELATED MESSENGER-RNAS IN THE RAT PANCREAS
Authors: NEUVILLE P VANIER MT MICHALIK L LAUNAY JF
Citation: P. Neuville et al., IN-SITU LOCALIZATION WITH DIGOXIGENIN-LABELED PROBES OF TAU-RELATED MESSENGER-RNAS IN THE RAT PANCREAS, Histochemical Journal, 27(8), 1995, pp. 565-574
GANGLIOSIDOSIS IN EMUS (DROMAIUS-NOVAEHOLLANDIAE)
Authors: BERMUDEZ AJ JOHNSON GC VANIER MT SCHRODER M SUZUKI K STOGSDILL PL JOHNSON GS OBRIEN D MOORE CP FRY WW
Citation: Aj. Bermudez et al., GANGLIOSIDOSIS IN EMUS (DROMAIUS-NOVAEHOLLANDIAE), Avian diseases, 39(2), 1995, pp. 292-303
MOLECULAR ANALYSIS OF THE ACID SPHINGOMYELINASE DEFICIENCY IN A FAMILY WITH AN INTERMEDIATE FORM OF NIEMANN-PICK DISEASE
Authors: FERLINZ K HURWITZ R WEILER M SUZUKI K SANDHOFF K VANIER MT
Citation: K. Ferlinz et al., MOLECULAR ANALYSIS OF THE ACID SPHINGOMYELINASE DEFICIENCY IN A FAMILY WITH AN INTERMEDIATE FORM OF NIEMANN-PICK DISEASE, American journal of human genetics, 56(6), 1995, pp. 1343-1349
Risultati: 1-25 | 26-34