Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process

por Wang, Chao, Scott, Samantha M., Subramanian, Kanagaraj, Loguercio, Salvatore, Zhao, Pei, Hutt, Darren M., Farhat, Nicole Y., Porter, Forbes D., Balch, William E.
Publicado 2019

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid

por Sidhu, Rohini, Jiang, Hui, Farhat, Nicole Y., Carrillo-Carrasco, Nuria, Woolery, Myra, Ottinger, Elizabeth, Porter, Forbes D., Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian
Publicado 2015

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1

por Lau, Meghann W., Lee, Ryan W., Miyamoto, Robin, Jung, Eun Sol, Yanjanin Farhat, Nicole, Yoshida, Shoko, Mori, Susumu, Gropman, Andrea, Baker, Eva H., Porter, Forbes D.
Publicado 2016

Phenotypic expression of swallowing function in Niemann–Pick disease type C1

por Solomon, Beth I., Muñoz, Andrea M., Sinaii, Ninet, Farhat, Nicole M., Smith, Andrew C., Bianconi, Simona, Dang Do, An, Backman, Michael C., Machielse, Leonza, Porter, Forbes D.
Publicado 2022

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

por Probert, Fay, Ruiz-Rodado, Victor, Vruchte, Danielle te, Nicoli, Elena-Raluca, Claridge, Tim D. W., Wassif, Christopher A., Farhat, Nicole, Porter, Forbes D., Platt, Frances M., Grootveld, Martin
Publicado 2017

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

por Baxter, Laura L., Watkins-Chow, Dawn E., Johnson, Nicholas L., Farhat, Nicole Y., Platt, Frances M., Dale, Ryan K., Porter, Forbes D., Pavan, William J., Rodriguez-Gil, Jorge L.
Publicado 2022

Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease

por Schultz, Mark L., Schache, Kylie J., Azaria, Ruth D., Kuiper, Esmée Q., Erwood, Steven, Ivakine, Evgueni A., Farhat, Nicole Y., Porter, Forbes D., Pathmasiri, Koralege C., Cologna, Stephanie M., Uhler, Michael D., Lieberman, Andrew P.
Publicado 2022

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

por Campbell, Kiersten, Cawley, Niamh X., Luke, Rachel, Scott, Katelin E. J., Johnson, Nicholas, Farhat, Nicole Y., Alexander, Derek, Wassif, Christopher A., Li, Wenping, Cologna, Stephanie M., Berry-Kravis, Elizabeth, Do, An Dang, Dale, Ryan K., Porter, Forbes D.
Publicado 2023

Defective platelet function in Niemann‐Pick disease type C1

por Chen, Oscar C. W., Colaco, Alexandria, Davis, Lianne C., Kiskin, Fedir N., Farhat, Nicole Y., Speak, Anneliese O., Smith, David A., Morris, Lauren, Eden, Emily, Tynan, Patricia, Churchill, Grant C., Galione, Antony, Porter, Forbes D., Platt, Frances M.
Publicado 2020

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

por Chen, Oscar C W, Siebel, Stephan, Colaco, Alexandria, Nicoli, Elena-Raluca, Platt, Nick, Shepherd, Dawn, Newman, Stephanie, Armitage, Andrew E, Farhat, Nicole Y, Seligmann, George, Smith, Claire, Smith, David A, Abdul-Sada, Alaa, Jeyakumar, Mylvaganam, Drakesmith, Hal, Porter, Forbes D, Platt, Frances M
Publicado 2023