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The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 7, 2002
Inhibition of intracellular cholesterol transport alters presenilin localization and amyloid precursor protein processing in neuronal cellsHeiko Runz, Jens Rietdorf, Inge Tomic, et al.
Pediatric Neurology|December 3, 2014
Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic featuresDarius Ebrahimi-Fakhari, Bianca Maas, Christian Haneke, et al.
The Journal of Biological Chemistry|June 18, 2010
Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C diseaseKatrin Strauss, Cornelia Goebel, Heiko Runz, et al.
Genome Biology|October 26, 2018
PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variantsCorneliu A Bodea, Adele A Mitchell, Alex Bloemendal, et al.
Pediatrics and Neonatology|April 20, 2013
Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalisOzge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, et al.
Nature Aging|April 28, 2023
The burden of rare protein-truncating genetic variants on human lifespanJimmy Z Liu, Chia-Yen Chen, Ellen A Tsai, et al.
Journal of Inherited Metabolic Disease|June 3, 2010
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson diseaseKarl Heinz Weiss, Heiko Runz, Barbara Noe, et al.
Orphanet Journal of Rare Diseases|February 26, 2013
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicatorsMiriam Stampfer, Susanne Theiss, Yasmina Amraoui, et al.
Cell Metabolism|July 9, 2009
Identification of cholesterol-regulating genes by targeted RNAi screeningFabian Bartz, Luise Kern, Dorothee Erz, et al.
Genome Biology|January 23, 2024
PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLsMartijn Vochteloo, Patrick Deelen, Britt Vink, et al.
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