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K Sandhoff

Showing results (241-250 of 256) with videos related to

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Genomics|July 8, 1998
Cloning and characterization of the full-length cDNA and genomic sequences encoding murine acid ceramidaseC M Li, S B Hong, G Kopal, et al.
Journal of Inherited Metabolic Disease|May 7, 2005
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach studyH Pavlů-Pereira, B Asfaw, H Poupctová, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 22, 1997
Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairmentY Liu, A Hoffmann, A Grinberg, et al.
The Journal of Biological Chemistry|December 20, 1996
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber diseaseJ Koch, S Gärtner, C M Li, et al.
Biochimica Et Biophysica Acta|April 21, 1999
The human homolog of Drosophila cornichon protein is differentially expressed in alloactivated T-cellsN Utku, G C Bulwin, S Beinke, et al.
Biochimica Et Biophysica Acta|July 26, 1985
The effect of detergents on immunoprecipitability of lysosomal sphingomyelinaseM Driessen, G Weitz, E M Brouwer-Kelder, et al.
Nature Genetics|October 1, 1995
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolismK Sango, S Yamanaka, A Hoffmann, et al.
Bioscience Reports|December 1, 1984
Immunological studies on lysosomal sphingomyelinase: identification of a 28 000-Da component deficient in urine from patients with Niemann-Pick disease types A and BA W Schram, M Dreissen, J Bastiaannet, et al.
Neurochemical Research|October 11, 2002
Restoration of the GM2 ganglioside metabolism in bone marrow-derived stromal cells from Tay-Sachs disease animal modelS Martino, C Cavalieri, C Emiliani, et al.
Neurology|February 5, 1999
GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patientH Sakuraba, K Itoh, M Shimmoto, et al.
Pageof 26

Showing results (241-250 of 256) with videos related to

Sort By:
Pageof 26
Genomics|July 8, 1998
Cloning and characterization of the full-length cDNA and genomic sequences encoding murine acid ceramidaseC M Li, S B Hong, G Kopal, et al.
Journal of Inherited Metabolic Disease|May 7, 2005
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach studyH Pavlů-Pereira, B Asfaw, H Poupctová, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 22, 1997
Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairmentY Liu, A Hoffmann, A Grinberg, et al.
The Journal of Biological Chemistry|December 20, 1996
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber diseaseJ Koch, S Gärtner, C M Li, et al.
Biochimica Et Biophysica Acta|April 21, 1999
The human homolog of Drosophila cornichon protein is differentially expressed in alloactivated T-cellsN Utku, G C Bulwin, S Beinke, et al.
Biochimica Et Biophysica Acta|July 26, 1985
The effect of detergents on immunoprecipitability of lysosomal sphingomyelinaseM Driessen, G Weitz, E M Brouwer-Kelder, et al.
Nature Genetics|October 1, 1995
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolismK Sango, S Yamanaka, A Hoffmann, et al.
Bioscience Reports|December 1, 1984
Immunological studies on lysosomal sphingomyelinase: identification of a 28 000-Da component deficient in urine from patients with Niemann-Pick disease types A and BA W Schram, M Dreissen, J Bastiaannet, et al.
Neurochemical Research|October 11, 2002
Restoration of the GM2 ganglioside metabolism in bone marrow-derived stromal cells from Tay-Sachs disease animal modelS Martino, C Cavalieri, C Emiliani, et al.
Neurology|February 5, 1999
GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patientH Sakuraba, K Itoh, M Shimmoto, et al.
Pageof 26