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Molecular Genetics and Metabolism|May 18, 2005
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblastsChristopher A Wassif, Patrycja A Krakowiak, Brooke S Wright, et al.Pediatric Neurology|September 8, 2014
Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1Ryan Lee, Kalyna Apkarian, Eun Sol Jung, et al.Human Molecular Genetics|February 1, 2006
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapyLina S Correa-Cerro, Christopher A Wassif, Lisa Kratz, et al.Autophagy|June 15, 2017
Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPKSheng Dai, Andrés E Dulcey, Xin Hu, et al.American Journal of Medical Genetics. Part A|October 18, 2023
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutationMyriam Abdennadher, Sara K Inati, Samar Rahhal, et al.Journal of Proteome Research|June 20, 2023
Cerebrospinal Fluid Protein Biomarker Discovery in CLN3An N Dang Do, David E Sleat, Kiersten Campbell, et al.Human Molecular Genetics|September 9, 2008
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndromeMarie L Lindegaard, Christopher A Wassif, Boris Vaisman, et al.International Journal of Molecular Sciences|May 14, 2022
Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 PathologyNiamh X Cawley, Anna T Lyons, Daniel Abebe, et al.Journal of Developmental and Behavioral Pediatrics : JDBP|February 20, 2020
Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1Audrey Thurm, Colby Chlebowski, Lisa Joseph, et al.Human Mutation|June 15, 2005
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)John S Waye, Patrycja A Krakowiak, Christopher A Wassif, et al.Pageof 20