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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 6, 2009
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type CNicole M Yanjanin, Jorge I Vélez, Andrea Gropman, et al.Human Molecular Genetics|May 14, 2013
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1Rao Fu, Christopher A Wassif, Nicole M Yanjanin, et al.Molecular Genetics and Metabolism Reports|June 11, 2021
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1Margaret Reynolds, Laura A Linneman, Sofia Luna, et al.Journal of the Association for Research in Otolaryngology : JARO|May 20, 2014
Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type CKelly A King, Sandra Gordon-Salant, Karen S Pawlowski, et al.Life Science Alliance|March 30, 2026
Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 miceAvani V Mylvara, Alana L Gibson, Tansy Gu, et al.Nature Medicine|March 22, 2016
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypesKevin R Francis, Amy N Ton, Yao Xin, et al.Human Molecular Genetics|May 24, 2012
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1Celine V M Cluzeau, Dawn E Watkins-Chow, Rao Fu, et al.Journal of Clinical Medicine|December 22, 2019
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung PathologyJorge L Rodriguez-Gil, Dawn E Watkins-Chow, Laura L Baxter, et al.JCI Insight|October 27, 2022
Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C diseaseMark L Schultz, Kylie J Schache, Ruth D Azaria, et al.Translational Psychiatry|September 10, 2021
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficitsElaine Tierney, Alan T Remaley, Audrey Thurm, et al.Pageof 20