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BMC Genomics|August 16, 2023
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focusErica L Lyons, Daniel Watson, Mohammad S Alodadi, et al.Human Molecular Genetics|June 19, 2003
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiencyPatrycja A Krakowiak, Christopher A Wassif, Lisa Kratz, et al.Metallomics : Integrated Biometal Science|December 18, 2013
Altered transition metal homeostasis in Niemann-Pick disease, type C1Ya Hui Hung, Noel G Faux, David W Killilea, et al.Orphanet Journal of Rare Diseases|June 18, 2015
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 diseaseAnne-Katrin Giese, Hermann Mascher, Ulrike Grittner, et al.Journal of Inherited Metabolic Disease|May 9, 2013
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1Stephanie M Cologna, Celine V M Cluzeau, Nicole M Yanjanin, et al.Biorxiv : the Preprint Server for Biology|June 19, 2024
Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 miceAvani V Mylvara, Alana L Gibson, Tansy Gu, et al.American Journal of Medical Genetics. Part A|February 9, 2021
Characterizing upper limb function in the context of activities of daily living in CLN3 diseaseHanna Hildenbrand, Jordan Wickstrom, Rebecca Parks, et al.Disease Models & Mechanisms|August 24, 2018
Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compoundsWei-Chia Tseng, Hannah E Loeb, Wuhong Pei, et al.Human Molecular Genetics|April 5, 2018
Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic interventionAntony Cougnoux, Rebecca A Drummond, Amanda L Collar, et al.FEBS Letters|May 4, 2016
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C diseaseFrancesca Mazzacuva, Philippa Mills, Kevin Mills, et al.Pageof 20