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

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

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

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

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

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