Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
Genomic modifiers of neurological resilience in a Niemann-Pick C family.
Las Heras M et al.
Febs Letters, 2025
Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.
Javanshad R et al.
Lipids in Health and Disease, 2025
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.
Brémovà-Ertl T et al.
Frontiers in Neurology, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series.
Saneifard H et al.
Molecular Genetics and Metabolism Reports, 2024
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.
Hosseini K et al.
Cell Biochemistry and Function, 2024
Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C.
Mohamed AA et al.
Neurology International, 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
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.
Las Heras M et al.
Npj Genomic Medicine, 2023
Novel Mutation in the Feline NPC2 Gene in Cats with Niemann-Pick Disease.
Rakib TM et al.
Animals : an Open Access Journal From Mdpi, 2023
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.
Bonetti G et al.
Journal of Clinical Medicine, 2022
Spectrum of Movement Disorders in Niemann-Pick Disease Type C.
Devaraj R et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Estimated prevalence of Niemann-Pick type C disease in Quebec.
Labrecque M et al.
Scientific Reports, 2021
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
Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.
Dweikat I et al.
Bmc Medical Genomics, 2021
Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.
Yoon HJ et al.
Journal of Neurochemistry, 2021
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
Colombo A et al.
Nature Communications, 2021
Inherited disorders of lysosomal membrane transporters.
Huizing M et al.
Biochimica Et Biophysica Acta. Biomembranes, 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
Molecular dynamics simulations reveal structural differences among wild-type NPC1 protein and its mutant forms.
Martínez-Archundia M et al.
Journal of Biomolecular Structure & Dynamics, 2020
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Retinal axonal degeneration in Niemann-Pick type C disease.
Havla J et al.
Journal of Neurology, 2020
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.
Rodriguez-Gil JL et al.
Disease Models & Mechanisms, 2020
Clinical and neurophysiological characteristics of heterozygous NPC1 carriers.
Benussi A et al.
Jimd Reports, 2019
An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.
Hannah-Shmouni F et al.
Reviews in Endocrine & Metabolic Disorders, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
Bountouvi E et al.
Bmc Medical Genetics, 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
Disorders in the initial steps of steroid hormone synthesis.
Miller WL
The Journal of Steroid Biochemistry and Molecular Biology, 2017
The Spectrum of Niemann-Pick Type C Disease in Greece.
Mavridou I et al.
Jimd Reports, 2017
The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran.
Noroozi Asl S et al.
Iranian Journal of Child Neurology, 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
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 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
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
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
Marques AR et al.
Plos One, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
[Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation].
Yang R et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Genetic and laboratory diagnostic approach in Niemann Pick disease type C.
McKay Bounford K et al.
Journal of Neurology, 2014
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
Zhang H et al.
Orphanet Journal of Rare Diseases, 2014
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.
Mavridou I et al.
Clinical Genetics, 2014
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.
Takamura A et al.
Molecular Genetics and Metabolism, 2013
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
Al-Jasmi FA et al.
Jimd Reports, 2013
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Héron B et al.
Orphanet Journal of Rare Diseases, 2012