Showing results (131-140 of 192) with videos related to
Sort By:
Pageof 20
Molecular Genetics and Metabolism|July 30, 2023
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1Niamh X Cawley, Spencer Giddens, Nicole M Farhat, et al.Journal of Lipid Research|July 25, 2013
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profilingMartin Fan, Rohini Sidhu, Hideji Fujiwara, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2015
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data setsChristopher A Wassif, Joanna L Cross, James Iben, et al.American Journal of Medical Genetics. Part A|March 29, 2017
Normal IQ is possible in Smith-Lemli-Opitz syndromeYasemen Eroglu, Mina Nguyen-Driver, Robert D Steiner, et al.Annals of Biomedical Engineering|September 17, 2025
Cholesterol Depletion with U18666A and Methyl-β Cyclodextrin Increased Small Molecule Permeability Across Brain Microvascular Endothelial CellsBilal Moiz, Viviana Alpizar Vargas, Ken D Brandon, et al.Journal of Child Neurology|June 17, 2025
Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity ScaleCristan Farmer, Monica Lewis, Nicole Farhat, et al.Life Science Alliance|June 4, 2020
Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type CAlexandria Colaco, María E Fernández-Suárez, Dawn Shepherd, et al.Journal of Inherited Metabolic Disease|November 11, 2019
Mechanistic convergence and shared therapeutic targets in Niemann-Pick diseaseAlexandria Colaco, Ecem Kaya, Elias Adriaenssens, et al.Journal of Neuroinflammation|December 30, 2019
Unique molecular signature in mucolipidosis type IV microgliaAntony Cougnoux, Rebecca A Drummond, Mason Fellmeth, et al.Journal of Proteome Research|August 20, 2015
An Efficient Approach to Evaluate Reporter Ion Behavior from MALDI-MS/MS Data for Quantification Studies Using Isobaric TagsStephanie M Cologna, Christopher A Crutchfield, Brian C Searle, et al.Pageof 20