Associated Papers
Neurodevelopmental and Behavioral Phenotypes in 14q11.2 Microduplication Syndrome: A Case Report and Literature Review.
Williams JM et al.
Cureus, 2025
How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.
Girard S et al.
Hemasphere, 2024
Exemestane plus everolimus and palbociclib in metastatic breast cancer: clinical response and genomic/transcriptomic determinants of resistance in a phase I/II trial.
Gómez Tejeda Zañudo J et al.
Nature Communications, 2024
NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.
Somerville EN et al.
Neurobiology of Aging, 2023
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.
Michelini S et al.
Journal of Personalized Medicine, 2022
Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
Völkner C et al.
International Journal of Molecular Sciences, 2021
Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.
Schneider SA et al.
Journal of Neurology, 2021
Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.
Touma L et al.
Scientific Reports, 2021
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
Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.
Ouled Amar Bencheikh B et al.
Neurobiology of Aging, 2020
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
Kawazoe T et al.
Bmc Neurology, 2018
Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.
Munkacsi AB et al.
The Journal of Biological Chemistry, 2017
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.
Adebali O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
Gong X et al.
Cell, 2016
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Genetic convergence of Parkinson's disease and lysosomal storage disorders.
Deng H et al.
Molecular Neurobiology, 2015
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Zech M et al.
Plos One, 2013
The NPC1 protein: structure implies function.
Scott C et al.
Biochimica Et Biophysica Acta, 2004
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
Sun X et al.
American Journal of Human Genetics, 2001
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