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Neurology|January 6, 2011
Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional studyN Mattsson, H Zetterberg, S Bianconi, et al.
Heredity|May 1, 2014
Inferring outcrossing in the homothallic fungus Sclerotinia sclerotiorum using linkage disequilibrium decayR N Attanayake, V Tennekoon, D A Johnson, et al.
The Patient|July 2, 2025
Seven Actions Towards Advancing Patient Authorship and Collaboration in Peer-Reviewed PublicationsTrishna Bharadia, Jan Geissler, Rosie Robson, et al.
Elife|November 28, 2015
Intracellular sphingosine releases calcium from lysosomesDoris Höglinger, Per Haberkant, Auxiliadora Aguilera-Romero, et al.
Melanoma Research|March 29, 2006
Anti-alphaGal-dependent complement-mediated cytotoxicity in metastatic melanomaJames M G Larkin, Peter J Norsworthy, Roger P A'Hern, et al.
Stem Cell Research|March 2, 2020
An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 geneRong Li, Manisha Pradhan, Miao Xu, et al.
Molecular Genetics and Metabolism|November 1, 2020
Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1Antony Cougnoux, Julia C Yerger, Mason Fellmeth, et al.
Chemical Science|October 8, 2019
A simple vaporous probe with atomic-scale sensitivity to structural ordering and orientation of molecular assemblyHan-Wen Cheng, Zhi-Peng Wu, Shan Yan, et al.
American Journal of Medical Genetics. Part A|October 13, 2011
Adrenal function in Smith-Lemli-Opitz syndromeSimona E Bianconi, Sandra K Conley, Meg F Keil, et al.
The Journal of Clinical Endocrinology and Metabolism|July 24, 2015
Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal CortexEdra London, Christopher A Wassif, Anelia Horvath, et al.
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