Lysosomal Storage Disorders in the Newborn

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

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

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

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

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

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

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

Glucocerebrosidase Mutations in Chinese Subjects from Taiwan with Sporadic Parkinson Disease

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

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

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

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

por 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
Publicado 2007

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

por 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
Publicado 1998