Associated Papers
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
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
Polese-Bonatto M et al.
Molecular Neurobiology, 2019
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y et al.
Orphanet Journal of Rare Diseases, 2018
30285904 (PubMed )
Supplement: 13023_2018_913_MOESM1_ESM.docx
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Schwerd T et al.
Gut, 2017
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
De Castro-Orós I et al.
Journal of Translational Medicine, 2017
Use of 2 hydroxypropyl-beta-cyclodextrin therapy in two adult Niemann Pick Type C patients.
García-Robles AA et al.
Journal of the Neurological Sciences, 2016
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
Gong X et al.
Cell, 2016
27238017 (PubMed )
Supplement: mmc1.pdf
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
Marques AR et al.
Plos One, 2016
26771826 (PubMed )
Supplement: pone.0147208.s002.xls › Sheet1
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
The adult form of Niemann-Pick disease type C.
Sévin M et al.
Brain : a Journal of Neurology, 2007
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM et al.
Clinical Genetics, 2005
Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.
Kannan P et al.
Journal of Biomolecular Structure & Dynamics, 0
36264126 (PubMed )
Supplement: supplement_1.docx
Select a paper to view details