Associated Papers
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
Hopf S et al.
Plos One, 2021
34086834 (PubMed )
Supplement: pone.0252825.s001.pdf
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean A et al.
Scientific Reports, 2020
33139814 (PubMed )
Supplement: 41598_2020_75919_MOESM2_ESM.xlsx › LOF_and_nonsynonymous_mutations
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Mazzacuva F et al.
Febs Letters, 2016
27139891 (PubMed )
Supplement: FEB2-590-1651-s001.pdf
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Stampfer M et al.
Orphanet Journal of Rare Diseases, 2013
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.
Speak AO et al.
European Journal of Immunology, 2012
NPC-db, a Niemann-Pick type C disease gene variation database.
Runz H et al.
Human Mutation, 2008
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