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L Poenaru

Showing results (71-80 of 92) with videos related to

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Human Genetics|January 1, 1983
Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting techniqueS Gautron, L Poenaru, J Boue, et al.
Human Molecular Genetics|January 1, 1993
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patientsS Akli, J C Chomel, J M Lacorte, et al.
Human Molecular Genetics|April 10, 1999
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out miceJ E Guidotti, A Mignon, G Haase, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 1, 1997
[Beta mannosidosis: a new case]E Gourrier, M P Thomas, A Munnich, et al.
Gene Therapy|September 1, 1996
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transferS Akli, J E Guidotti, E Vigne, et al.
FEBS Letters|May 17, 1982
Isolation and characterisation of 4-O-beta-D-mannopyranosyl-2-acetamido- 2-deoxy-D-glucose from the urine of a patient with mucolipidosis II and its occurrence in normal and pathological urineM Lemonnier, C Derappe, L Poenaru, et al.
Neurology|November 9, 2000
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlationP Laforêt, M Nicolino, P B Eymard, et al.
Human Mutation|April 11, 2001
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry diseaseD P Germain, D Salard, F Fellmann, et al.
Human Mutation|January 1, 1997
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A geneR Draghia, F Letourneur, C Drugan, et al.
The European Journal of Neuroscience|October 1, 1993
Adenoviral vector as a gene delivery system into cultured rat neuronal and glial cellsC Caillaud, S Akli, E Vigne, et al.
Pageof 10

Showing results (71-80 of 92) with videos related to

Sort By:
Pageof 10
Human Genetics|January 1, 1983
Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting techniqueS Gautron, L Poenaru, J Boue, et al.
Human Molecular Genetics|January 1, 1993
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patientsS Akli, J C Chomel, J M Lacorte, et al.
Human Molecular Genetics|April 10, 1999
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out miceJ E Guidotti, A Mignon, G Haase, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 1, 1997
[Beta mannosidosis: a new case]E Gourrier, M P Thomas, A Munnich, et al.
Gene Therapy|September 1, 1996
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transferS Akli, J E Guidotti, E Vigne, et al.
FEBS Letters|May 17, 1982
Isolation and characterisation of 4-O-beta-D-mannopyranosyl-2-acetamido- 2-deoxy-D-glucose from the urine of a patient with mucolipidosis II and its occurrence in normal and pathological urineM Lemonnier, C Derappe, L Poenaru, et al.
Neurology|November 9, 2000
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlationP Laforêt, M Nicolino, P B Eymard, et al.
Human Mutation|April 11, 2001
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry diseaseD P Germain, D Salard, F Fellmann, et al.
Human Mutation|January 1, 1997
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A geneR Draghia, F Letourneur, C Drugan, et al.
The European Journal of Neuroscience|October 1, 1993
Adenoviral vector as a gene delivery system into cultured rat neuronal and glial cellsC Caillaud, S Akli, E Vigne, et al.
Pageof 10