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Ellen Sidransky

Showing results (81-90 of 166) with videos related to

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Biochemical and Biophysical Research Communications|June 5, 2012
Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humansKlaus Harzer, Yotam Blech-Hermoni, Ehud Goldin, et al.
Haematologica|December 25, 2016
Efferocytosis is impaired in Gaucher macrophagesElma Aflaki, Daniel K Borger, Richard J Grey, et al.
American Journal of Medical Genetics|March 14, 2002
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-IaNahid Tayebi, David Q Andrews, Joseph K Park, et al.
Bioorganic & Medicinal Chemistry Letters|September 11, 2007
N4-phenyl modifications of N2-(2-hydroxyl)ethyl-6-(pyrrolidin-1-yl)-1,3,5-triazine-2,4-diamines enhance glucocerebrosidase inhibition by small molecules with potential as chemical chaperones for Gaucher diseaseWenwei Huang, Wei Zheng, Daniel J Urban, et al.
Plos One|January 25, 2012
High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidaseEhud Goldin, Wei Zheng, Omid Motabar, et al.
American Journal of Human Genetics|February 15, 2003
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher diseaseNahid Tayebi, Barbara K Stubblefield, Joseph K Park, et al.
The Journal of Pediatrics|June 24, 2008
Cognitive outcome in treated patients with chronic neuronopathic Gaucher diseaseOzlem Goker-Alpan, Edythe A Wiggs, Michael J Eblan, et al.
Molecular Genetics and Metabolism|July 2, 2019
Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2Gurpreet Seehra, Beth Solomon, Emory Ryan, et al.
Molecular Genetics and Metabolism|January 26, 2010
False-positive results using a Gaucher diagnostic kit--RecTL and N370SJae Hyuk Choi, Arash Velayati, Barbara K Stubblefield, et al.
Molecular Genetics and Metabolism|November 13, 2020
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective reviewChelsie N Poffenberger, Sara Inati, Nahid Tayebi, et al.
Pageof 17

Showing results (81-90 of 166) with videos related to

Sort By:
Pageof 17
Biochemical and Biophysical Research Communications|June 5, 2012
Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humansKlaus Harzer, Yotam Blech-Hermoni, Ehud Goldin, et al.
Haematologica|December 25, 2016
Efferocytosis is impaired in Gaucher macrophagesElma Aflaki, Daniel K Borger, Richard J Grey, et al.
American Journal of Medical Genetics|March 14, 2002
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-IaNahid Tayebi, David Q Andrews, Joseph K Park, et al.
Bioorganic & Medicinal Chemistry Letters|September 11, 2007
N4-phenyl modifications of N2-(2-hydroxyl)ethyl-6-(pyrrolidin-1-yl)-1,3,5-triazine-2,4-diamines enhance glucocerebrosidase inhibition by small molecules with potential as chemical chaperones for Gaucher diseaseWenwei Huang, Wei Zheng, Daniel J Urban, et al.
Plos One|January 25, 2012
High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidaseEhud Goldin, Wei Zheng, Omid Motabar, et al.
American Journal of Human Genetics|February 15, 2003
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher diseaseNahid Tayebi, Barbara K Stubblefield, Joseph K Park, et al.
The Journal of Pediatrics|June 24, 2008
Cognitive outcome in treated patients with chronic neuronopathic Gaucher diseaseOzlem Goker-Alpan, Edythe A Wiggs, Michael J Eblan, et al.
Molecular Genetics and Metabolism|July 2, 2019
Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2Gurpreet Seehra, Beth Solomon, Emory Ryan, et al.
Molecular Genetics and Metabolism|January 26, 2010
False-positive results using a Gaucher diagnostic kit--RecTL and N370SJae Hyuk Choi, Arash Velayati, Barbara K Stubblefield, et al.
Molecular Genetics and Metabolism|November 13, 2020
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective reviewChelsie N Poffenberger, Sara Inati, Nahid Tayebi, et al.
Pageof 17