Novel SPG4 Mutation in a Patient with Sporadic Hereditary Spastic Paraplegia and Elevated Cerebrospinal Fluid Protein

por She, Hongda, Zheng, Xin, Xiao, Yingxiu, Mastaglia, Frank, Akkari, Anthony, Wu, Jingshan
Publicado 2021

Coding variants in PNPLA3 and TM6SF2 are risk factors for hepatic steatosis and elevated serum alanine aminotransferases caused by a glucagon receptor antagonist

por Guzman, Cristina B., Duvvuru, Suman, Akkari, Anthony, Bhatnagar, Pallav, Battioui, Chakib, Foster, Wendra, Zhang, Xiaotian Michelle, Shankar, Sudha S., Deeg, Mark A., Chalasani, Naga, Hardy, Thomas A., Kazda, Christof M., Pillai, Sreekumar G.
Publicado 2018