Lysosomal Storage Disorders in the Newborn

par Staretz-Chacham, Orna, Lang, Tess C., LaMarca, Mary E., Krasnewich, Donna, Sidransky, Ellen
Publié 2009

Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease

par Tayebi, Nahid, Stubblefield, Barbara K., Park, Joseph K., Orvisky, Eduard, Walker, Jamie M., LaMarca, Mary E., Sidransky, Ellen
Publié 2003

The Need for Appropriate Genotyping Strategies for Glucocerebrosidase Mutations in Cohorts With Parkinson Disease

par Gutti, Usha, Fung, Hon-Chung, Hruska, Kathleen S., LaMarca, Mary E., Chen, Chiung-Mei, Wu, Yih-Ru, Sidransky, Ellen
Publié 2008

Optimization and Validation of Two Miniaturized Glucocerebrosidase Enzyme Assays for High-Throughput Screening

par Urban, Daniel J., Zheng, Wei, Goker-Alpan, Ozlem, Jadhav, Ajit, LaMarca, Mary E., Inglese, James, Sidransky, Ellen, Austin, Christopher P.
Publié 2008

Glucocerebrosidase Mutations in Chinese Subjects from Taiwan with Sporadic Parkinson Disease

par Ziegler, Shira G., Eblan, Michael J., Gutti, Usha, Hruska, Kathleen S., Stubblefield, Barbara K., Goker-Alpan, Ozlem, LaMarca, Mary E, Sidransky, Ellen
Publié 2007

In silico and functional studies of the regulation of the glucocerebrosidase gene

par Blech-Hermoni, Yotam N., Ziegler, Shira G., Hruska, Kathleen S., Stubblefield, Barbara K., LaMarca, Mary E., Portnoy, Matthew E., Green, Eric D., Sidransky, Ellen
Publié 2009

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

par Zheng, Wei, Padia, Janak, Urban, Daniel J., Jadhav, Ajit, Goker-Alpan, Ozlem, Simeonov, Anton, Goldin, Ehud, Auld, Douglas, LaMarca, Mary E., Inglese, James, Austin, Christopher P., Sidransky, Ellen
Publié 2007

Mice That Lack Thrombospondin 2 Display Connective Tissue Abnormalities That Are Associated with Disordered Collagen Fibrillogenesis, an Increased Vascular Density, and a Bleeding...

par Kyriakides, Themis R., Zhu, Yu-Hong, Smith, Lynne T., Bain, Steven D., Yang, Zhantao, Lin, Ming T., Danielson, Keith G., Iozzo, Renato V., LaMarca, Mary, McKinney, Cindy E., Ginns, Edward I., Bornstein, Paul
Publié 1998