Mario Cortina-Borja

An inducible mouse model of late onset Tay-Sachs disease (2002)

Jeyakumar, Mylvaganam, Smith, David, Eliott-Smith, Elena, Cortina-Borja, Mario, Reinkensmeier, Gabriele, Butters, Terry D., ...

Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological...

Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation (2001)

Jeyakumar, Mylvaganam, Norflus, Francine, Tifft, Cynthia.J., Cortina-Borja, Mario, Butters, Terry.D., Proia, Richard.L., ...

Sandhoff disease is a lysosomal storage disorder characterized by GM2 ganglioside accumulation in the central nervous system (CNS) and periphery. It results from mutations in the HEXB gene, causing a...

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin

Jeyakumar, Mylvaganam, Butters, Terry D., Cortina-Borja, Mario, Hunnam, Victoria, Proia, Richard L., Perry, V. Hugh, ...

Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene, which encodes the β-subunit of β-hexosaminidase. GM2 ganglioside...

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin

Jeyakumar, Mylvaganam, Butters, Terry D., Cortina-Borja, Mario, Hunnam, Victoria, Proia, Richard L., Perry, V. Hugh, ...

Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene, which encodes the β-subunit of β-hexosaminidase. GM2 ganglioside...

Beyond Beta: Other Continuous Families of Distributions with Bounded Support and Applications by S. Kotz and J. R. van Dorp

Mario Cortina-Borja

Genetic and Epigenetic Factors at COL2A1 and ABCA4 Influence Clinical Outcome in Congenital Toxoplasmosis

Jamieson, Sarra E., De Roubaix, Lee-Anne, Cortina-Borja, Mario, Tan, Hooi Kuan, Mui, Ernest J., Cordell, Heather J., ...