Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity

per Stein, Philip, Yang, Ruhua, Liu, Jun, Pastores, Gregory M., Mistry, Pramod K.
Publicat 2011

Aberrant Progranulin, YKL-40, Cathepsin D and Cathepsin S in Gaucher Disease

per Afinogenova, Yuliya, Ruan, Jiapeng, Yang, Ruhua, Kleytman, Nathaniel, Pastores, Gregory, Lischuk, Andrew, Mistry, Pramod K.
Publicat a Mol Genet Metab (2019)

Correlation of MRI-Based Bone Marrow Burden Score with Genotype and Spleen Status in Gaucher’s Disease

per DeMayo, Robert F., Haims, Andrew H., McRae, Matthew C., Yang, Ruhua, Mistry, Pramod K.
Publicat 2008

The risk of Parkinson's disease in type 1 Gaucher disease

per Bultron, Gilberto, Kacena, Katherine, Pearson, Daniel, Boxer, Michael, Yang, Ruhua, Sathe, Swati, Pastores, Gregory, Mistry, Pramod K.
Publicat 2010

Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report

per Vujosevic, Snezana, Medenica, Sanja, Vujicic, Vesko, Dapcevic, Milena, Bakic, Nikola, Yang, Ruhua, Liu, Jun, Mistry, Pramod K
Publicat a World J Clin Cases (2019)

Type II NKT-T(FH) cells against Gaucher lipids regulate B-cell immunity and inflammation

per Nair, Shiny, Boddupalli, Chandra Sekhar, Verma, Rakesh, Liu, Jun, Yang, Ruhua, Pastores, Gregory M., Mistry, Pramod K., Dhodapkar, Madhav V.
Publicat a Blood (2015)

Validating Glycoprotein Non-Metastatic Melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher Disease

per Murugesan, Vagishwari, Liu, Jun, Yang, Ruhua, Lin, Haiquin, Lischuk, Andrew, Pastores, Gregory, Zhang, Xiaokui, Chuang, Wei-Lien., Mistry, Pramod K
Publicat a Blood Cells Mol Dis (2016)

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease

per Taddei, Tamar H., Dziura, James, Chen, Shu, Yang, Ruhua, Hyogo, Hideyuki, Sullards, Cameron, Cohen, David E., Pastores, Gregory, Mistry, Pramod K.
Publicat 2010

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

per Taddei, Tamar H., Kacena, Katherine A., Yang, Mei, Yang, Ruhua, Malhotra, Advitya, Boxer, Michael, Aleck, Kirk A., Rennert, Gadi, Pastores, Gregory M., Mistry, Pramod K.
Publicat 2009

Glucosylsphingosine is a key Biomarker of Gaucher Disease

per Murugesan, Vagishwari, Chuang, Wei-Lien, Liu, Jun, Lischuk, Andrew, Kacena, Katherine, Lin, Haiqun, Pastores, Gregory M, Yang, Ruhua, Keutzer, Joan, Zhang, Kate, Mistry, Pramod K
Publicat a Am J Hematol (2016)

Gaucher disease gene GBA functions in immune regulation

per Liu, Jun, Halene, Stephanie, Yang, Mei, Iqbal, Jameel, Yang, Ruhua, Mehal, Wajahat Z., Chuang, Wei-Lien, Jain, Dhanpat, Yuen, Tony, Sun, Li, Zaidi, Mone, Mistry, Pramod K.
Publicat 2012

Genome-wide Association Study of N370S Homozygous Gaucher Disease Reveals the Candidacy of CLN8 gene as a Genetic Modifier Contributing to Extreme Phenotypic Variation

per Zhang, Clarence K., Stein, Philip B., Liu, Jun, Pastores, Gregory M., Wang, Zuoheng, Yang, Ruhua, Cho, Judy H., Gregersen, Peter K., Aerts, Johannes M. F. G., Zhao, Hongyu, Mistry, Pramod K.
Publicat 2012

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease

per Mistry, Pramod K., Liu, Jun, Sun, Li, Chuang, Wei-Lien, Yuen, Tony, Yang, Ruhua, Lu, Ping, Zhang, Kate, Li, Jianhua, Keutzer, Joan, Stachnik, Agnes, Mennone, Albert, Boyer, James L., Jain, Dhanpat, Brady, Roscoe O., New, Maria I., Zaidi, Mone
Publicat 2014