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Results: 1-19 |
Results: 19
RETROVIRUS-MEDIATED ENZYMATIC CORRECTION OF TAY-SACHS DEFECT IN TRANSDUCED AND NON-TRANSDUCED CELLS
Authors: GUIDOTTI JE AKLI S CASTELNAUPTAKHINE L KAHN A POENARU L
Citation: Je. Guidotti et al., RETROVIRUS-MEDIATED ENZYMATIC CORRECTION OF TAY-SACHS DEFECT IN TRANSDUCED AND NON-TRANSDUCED CELLS, Human molecular genetics, 7(5), 1998, pp. 831-838
ADENOVIRUS-MEDIATED TRANSFER OF THE ACID ALPHA-GLUCOSIDASE GENE INTO FIBROBLASTS, MYOBLASTS AND MYOTUBES FROM PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II LEADS TO HIGH-LEVEL EXPRESSION OF ENZYME AND CORRECTS GLYCOGEN ACCUMULATION
Authors: NICOLINO MP PUECH JP KREMER EJ REUSER AJJ MBEBI C VERDIERESAHUQUE M KAHN A POENARU L
Citation: Mp. Nicolino et al., ADENOVIRUS-MEDIATED TRANSFER OF THE ACID ALPHA-GLUCOSIDASE GENE INTO FIBROBLASTS, MYOBLASTS AND MYOTUBES FROM PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II LEADS TO HIGH-LEVEL EXPRESSION OF ENZYME AND CORRECTS GLYCOGEN ACCUMULATION, Human molecular genetics (Print), 7(11), 1998, pp. 1695-1702
EXHAUSTIVE SCREENING OF THE ACID BETA-GLUCOSIDASE GENE, BY FLUORESCENCE-ASSISTED MISMATCH ANALYSIS USING UNIVERSAL PRIMERS - MUTATION PROFILE AND GENOTYPE PHENOTYPE CORRELATIONS IN GAUCHER-DISEASE/
Authors: GERMAIN DP PUECH JP CAILLAUD C KAHN A POENARU L
Citation: Dp. Germain et al., EXHAUSTIVE SCREENING OF THE ACID BETA-GLUCOSIDASE GENE, BY FLUORESCENCE-ASSISTED MISMATCH ANALYSIS USING UNIVERSAL PRIMERS - MUTATION PROFILE AND GENOTYPE PHENOTYPE CORRELATIONS IN GAUCHER-DISEASE/, American journal of human genetics, 63(2), 1998, pp. 415-427
METACHROMATIC LEUKODYSTROPHY - IDENTIFICATION OF THE FIRST DELETION IN EXON-1 AND OF 9 NOVEL POINT MUTATIONS IN THE ARYLSULFATASE-A GENE
Authors: DRAGHIA R LETOURNEUR F DRUGAN C MANICOM J BLANCHOT C KAHN A POENARU L CAILLAUD C
Citation: R. Draghia et al., METACHROMATIC LEUKODYSTROPHY - IDENTIFICATION OF THE FIRST DELETION IN EXON-1 AND OF 9 NOVEL POINT MUTATIONS IN THE ARYLSULFATASE-A GENE, Human mutation, 9(3), 1997, pp. 234-242
A NEW CASE OF BETA-MANNOSIDOSIS
Authors: GOURRIER E THOMAS MP MUNNICH A POENARU L ASENSI D JAN D LERAILLEZ J
Citation: E. Gourrier et al., A NEW CASE OF BETA-MANNOSIDOSIS, Archives de pediatrie, 4(2), 1997, pp. 147-151
FAMA (FLUORESCENCE-ASSISTED MISMATCH ANAL YSIS)
Authors: GERMAIN D POENARU L
Citation: D. Germain et L. Poenaru, FAMA (FLUORESCENCE-ASSISTED MISMATCH ANAL YSIS), MS. Medecine sciences, 13(6-7), 1997, pp. 846-849
GENOTYPE-PHENOTYPE CORRELATION IN JUVENILE AND ADULT-ONSET ACID MALTASE DEFICIENCY
Authors: LAFORET P NICOLINO M EYMARD B PUECH JP CAILLAUD C POENARU L FARDEAU M
Citation: P. Laforet et al., GENOTYPE-PHENOTYPE CORRELATION IN JUVENILE AND ADULT-ONSET ACID MALTASE DEFICIENCY, Neurology, 48(3), 1997, pp. 5114-5114
GLYCOGEN-STORAGE-DISEASE TYPE-II (ACID MALTASE DEFICIENCY) - IDENTIFICATION OF A NOVEL SMALL DELETION (DELCC482+483) IN FRENCH PATIENTS
Authors: NICOLINO M PUECH JP LETOURNEUR F FARDEAU M KAHN A POENARU L
Citation: M. Nicolino et al., GLYCOGEN-STORAGE-DISEASE TYPE-II (ACID MALTASE DEFICIENCY) - IDENTIFICATION OF A NOVEL SMALL DELETION (DELCC482+483) IN FRENCH PATIENTS, Biochemical and biophysical research communications, 235(1), 1997, pp. 138-141
COMPLETE MUTATION SCANNING OF THE ACID BETA-GLUCOSIDASE GENE BY FLUORESCENCE-ASSISTED MISMATCH ANALYSIS (FAMA) USING UNIVERSAL PRIMERS
Authors: GERMAIN D PUECH JP CAILLAUD C KAHN A POENARU L
Citation: D. Germain et al., COMPLETE MUTATION SCANNING OF THE ACID BETA-GLUCOSIDASE GENE BY FLUORESCENCE-ASSISTED MISMATCH ANALYSIS (FAMA) USING UNIVERSAL PRIMERS, American journal of human genetics, 61(4), 1997, pp. 2279-2279
RESTORATION OF HEXOSAMINIDASE-A ACTIVITY IN HUMAN TAY-SACHS FIBROBLASTS VIA ADENOVIRAL VECTOR-MEDIATED GENE-TRANSFER
Authors: AKLI S GUIDOTTI JE VIGNE E PERRICAUDET M SANDHOFF K KAHN A POENARU L
Citation: S. Akli et al., RESTORATION OF HEXOSAMINIDASE-A ACTIVITY IN HUMAN TAY-SACHS FIBROBLASTS VIA ADENOVIRAL VECTOR-MEDIATED GENE-TRANSFER, Gene therapy, 3(9), 1996, pp. 769-774
PARTICULARITIES OF LYSOSOMAL STORAGE DISEASES GENE-THERAPY
Authors: POENARU L
Citation: L. Poenaru, PARTICULARITIES OF LYSOSOMAL STORAGE DISEASES GENE-THERAPY, Gene therapy, 3(12), 1996, pp. 1039-1041
GENE-THERAPY FOR LYSOSOMAL STORAGE DISEAS ES
Authors: POENARU L
Citation: L. Poenaru, GENE-THERAPY FOR LYSOSOMAL STORAGE DISEAS ES, MS. Medecine sciences, 12(1), 1996, pp. 35-46
FLUORESCENCE-ASSISTED MISMATCH ANALYSIS (FAMA) FOR EXHAUSTIVE SCREENING OF THE ALPHA-GALACTOSIDASE-A GENE AND DETECTION OF CARRIERS IN FABRY DISEASE
Authors: GERMAIN D BIASOTTO M TOSI M MEO T KAHN A POENARU L
Citation: D. Germain et al., FLUORESCENCE-ASSISTED MISMATCH ANALYSIS (FAMA) FOR EXHAUSTIVE SCREENING OF THE ALPHA-GALACTOSIDASE-A GENE AND DETECTION OF CARRIERS IN FABRY DISEASE, Human genetics, 98(6), 1996, pp. 719-726
GENE DELIVERY INTO THE CENTRAL-NERVOUS-SYSTEM BY NASAL INSTILLATION IN RATS
Authors: DRAGHIA R CAILLAUD C MANICOM R PAVIRANI A KAHN A POENARU L
Citation: R. Draghia et al., GENE DELIVERY INTO THE CENTRAL-NERVOUS-SYSTEM BY NASAL INSTILLATION IN RATS, Gene therapy, 2(6), 1995, pp. 418-423
DISRUPTION OF MURINE HEXA GENE LEADS TO ENZYMATIC DEFICIENCY AND TO NEURONAL LYSOSOMAL STORAGE, SIMILAR TO THAT OBSERVED IN TAY-SACHS-DISEASE
Authors: COHENTANNOUDJI M MARCHAND P AKLI S SHEARDOWN SA PUECH JP KRESS C GRESSENS P NASSOGNE MC BECCARI T MUGGLETONHARRIS AL EVRARD P STIRLING JL POENARU L BABINET C
Citation: M. Cohentannoudji et al., DISRUPTION OF MURINE HEXA GENE LEADS TO ENZYMATIC DEFICIENCY AND TO NEURONAL LYSOSOMAL STORAGE, SIMILAR TO THAT OBSERVED IN TAY-SACHS-DISEASE, Mammalian genome, 6(12), 1995, pp. 844-849
IN-VIVO TRANSFER OF A MARKER GENE TO STUDY MOTONEURONAL DEVELOPMENT
Authors: LISOVOSKI F CADUSSEAU J AKLI S CAILLAUD C VIGNE E POENARU L STRATFORDPERRICAUDET L PERRICAUDET M KAHN A PESCHANSKI M
Citation: F. Lisovoski et al., IN-VIVO TRANSFER OF A MARKER GENE TO STUDY MOTONEURONAL DEVELOPMENT, NeuroReport, 5(9), 1994, pp. 1069-1072
MOLECULAR EPIDEMIOLOGY OF TAY-SACHS-DISEASE IN EUROPE
Authors: POENARU L AKLI S
Citation: L. Poenaru et S. Akli, MOLECULAR EPIDEMIOLOGY OF TAY-SACHS-DISEASE IN EUROPE, Biomedicine & pharmacotherapy, 48(8-9), 1994, pp. 341-346
MUCOPOLYSACCHARIDOSIS - TYPE I-HURLER SCH EIE WITH OCULAR COMPLICATIONS - A CLINICAL AND ULTRASTRUCTURAL-STUDY/
Authors: GIRARD B HOANGXUAN T DHERMIES F SAVOLDELLI M BENNOUNA M POENARU L MAROTEAUX P POULIQUEN Y
Citation: B. Girard et al., MUCOPOLYSACCHARIDOSIS - TYPE I-HURLER SCH EIE WITH OCULAR COMPLICATIONS - A CLINICAL AND ULTRASTRUCTURAL-STUDY/, Journal francais d'ophtalmologie, 17(4), 1994, pp. 286-295
ADENOVIRAL VECTOR AS A GENE DELIVERY SYSTEM INTO CULTURED RAT NEURONAL AND GLIAL-CELLS
Authors: CAILLAUD C AKLI S VIGNE E KOULAKOFF A PERRICAUDET M POENARU L KAHN A BERWALDNETTER Y
Citation: C. Caillaud et al., ADENOVIRAL VECTOR AS A GENE DELIVERY SYSTEM INTO CULTURED RAT NEURONAL AND GLIAL-CELLS, European journal of neuroscience, 5(10), 1993, pp. 1287-1291
Risultati: 1-19 |