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N Raben

Showing results (21-30 of 49) with videos related to

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American Journal of Human Genetics|January 1, 1995
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiencyN Raben, R Exelbert, R Spiegel, et al.
Human Mutation|January 1, 1997
Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African AmericansE M Adams, J A Becker, L Griffith, et al.
Diabetes/Metabolism Research and Reviews|August 10, 1999
Molecular scanning of the beta-3-adrenergic receptor gene in Pima Indians and CaucasiansK Silver, J Walston, Y Yang, et al.
The Journal of Biological Chemistry|September 30, 1994
A motif in human histidyl-tRNA synthetase which is shared among several aminoacyl-tRNA synthetases is a coiled-coil that is essential for enzymatic activity and contains the major autoantigenic epitopeN Raben, R Nichols, J Dohlman, et al.
Annals of Internal Medicine|May 1, 1995
NIH conference. Myositis: immunologic contributions to understanding cause, pathogenesis, and therapyP H Plotz, L G Rider, I N Targoff, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 1999
Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidaseA Amalfitano, A J McVie-Wylie, H Hu, et al.
Biochemical and Biophysical Research Communications|October 12, 2000
Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell lineF Martiniuk, A Chen, V Donnabella, et al.
American Journal of Human Genetics|April 1, 1995
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type IIC F Boerkoel, R Exelbert, C Nicastri, et al.
Human Gene Therapy|August 10, 1997
Myositis induced by naked DNA immunization with the gene for histidyl-tRNA synthetaseL M Blechynden, M A Lawson, H Tabarias, et al.
Journal of Neuromuscular Diseases|December 5, 2019
Advancements in AAV-mediated Gene Therapy for Pompe DiseaseS M Salabarria, J Nair, N Clement, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|January 1, 1995
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiencyN Raben, R Exelbert, R Spiegel, et al.
Human Mutation|January 1, 1997
Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African AmericansE M Adams, J A Becker, L Griffith, et al.
Diabetes/Metabolism Research and Reviews|August 10, 1999
Molecular scanning of the beta-3-adrenergic receptor gene in Pima Indians and CaucasiansK Silver, J Walston, Y Yang, et al.
The Journal of Biological Chemistry|September 30, 1994
A motif in human histidyl-tRNA synthetase which is shared among several aminoacyl-tRNA synthetases is a coiled-coil that is essential for enzymatic activity and contains the major autoantigenic epitopeN Raben, R Nichols, J Dohlman, et al.
Annals of Internal Medicine|May 1, 1995
NIH conference. Myositis: immunologic contributions to understanding cause, pathogenesis, and therapyP H Plotz, L G Rider, I N Targoff, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 1999
Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidaseA Amalfitano, A J McVie-Wylie, H Hu, et al.
Biochemical and Biophysical Research Communications|October 12, 2000
Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell lineF Martiniuk, A Chen, V Donnabella, et al.
American Journal of Human Genetics|April 1, 1995
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type IIC F Boerkoel, R Exelbert, C Nicastri, et al.
Human Gene Therapy|August 10, 1997
Myositis induced by naked DNA immunization with the gene for histidyl-tRNA synthetaseL M Blechynden, M A Lawson, H Tabarias, et al.
Journal of Neuromuscular Diseases|December 5, 2019
Advancements in AAV-mediated Gene Therapy for Pompe DiseaseS M Salabarria, J Nair, N Clement, et al.
Pageof 5