Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Neurogenin 2-induced central neurons generated from NPC patient-derived iPSC display attenuated neurite outgrowth while accumulating cholesterol.
Igarashi M et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
Kong SW et al.
Npj Genomic Medicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C.
Mohamed AA et al.
Neurology International, 2024
Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C.
Matsuo M et al.
Brain & Development, 2024
Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease.
Malara M et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
Liang H et al.
Journal of Inherited Metabolic Disease, 2024
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Tao C et al.
Bmc Infectious Diseases, 2024
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Encarnação M et al.
Genes, 2023
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
Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C.
Parihar J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
Kubaski F et al.
International Journal of Neonatal Screening, 2022
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.
Kresojević N et al.
Journal of Neurology, 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
Psychosis symptoms associated with Niemann-Pick disease type C.
Ong LT
Psychiatric Genetics, 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
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.
Völkner C et al.
International Journal of Molecular Sciences, 2021
Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual.
Völkner C et al.
Stem Cell Research, 2020
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
Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.
Wu M et al.
Movement Disorders Clinical Practice, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A et al.
Journal of Clinical Medicine, 2020
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Wang C et al.
Nature Communications, 2019
In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C.
Esposito M et al.
Heliyon, 2019
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
Polese-Bonatto M et al.
Molecular Neurobiology, 2019
Imaging of tau deposits in adults with Niemann-Pick type C disease: a case-control study.
Villemagne VL et al.
European Journal of Nuclear Medicine and Molecular Imaging, 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
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.
Tozza S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T et al.
Orphanet Journal of Rare Diseases, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.
Pipalia NH et al.
Journal of Lipid Research, 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
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
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Mazzacuva F et al.
Febs Letters, 2016
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.
Romanello M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
Chamova T et al.
European Neurology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Electrophysiological characterization of adult-onset Niemann-Pick type C disease.
Iodice R et al.
Journal of the Neurological Sciences, 2015
Genetic convergence of Parkinson's disease and lysosomal storage disorders.
Deng H et al.
Molecular Neurobiology, 2015
The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.
Macías-Vidal J et al.
The Febs Journal, 2014
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
Jahnova H et al.
Orphanet Journal of Rare Diseases, 2014
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
Manganelli F et al.
Journal of Neurology, 2014