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The Journal of Pediatrics|December 24, 2018
Early Indicators of Creatine Transporter DeficiencyJudith S Miller, Rebecca P Thomas, Amanda Bennett, et al.Journal of Lipid Research|April 14, 2015
A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluidRohini Sidhu, Hui Jiang, Nicole Y Farhat, et al.NMR in Biomedicine|September 29, 2020
Oxidative phosphorylation in creatine transporter deficiencyShizhe Li, Simona Bianconi, Jan Willem van der Veen, et al.International Journal of Molecular Sciences|April 27, 2024
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1Nicole Y Farhat, Derek Alexander, Kyli McKee, et al.Rare (Amsterdam, Netherlands)|February 24, 2025
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Lynne Wolfe, David R Adams, et al.International Journal of Molecular Sciences|August 1, 2020
Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 CerebellaAntony Cougnoux, Julia C Yerger, Mason Fellmeth, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2016
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndromeChristopher A Wassif, Lisa Kratz, Susan E Sparks, et al.BMC Developmental Biology|January 2, 2009
Inhibition of HMG CoA reductase reveals an unexpected role for cholesterol during PGC migration in the mouseJiaxi Ding, Dechen Jiang, Michael Kurczy, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2022
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1Neena Agrawal, Nicole Y Farhat, Ninet Sinaii, et al.International Journal of Molecular Sciences|January 8, 2020
Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1Kyle B Martin, Ian M Williams, Celine V Cluzeau, et al.Pageof 20