Associated Papers
Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.
Kara C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
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
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno P et al.
European Journal of Human Genetics : Ejhg, 2023
Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement.
Kraus D et al.
Children (basel, Switzerland), 2022
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.
Hopf S et al.
Plos One, 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
Retinal axonal degeneration in Niemann-Pick type C disease.
Havla J et al.
Journal of Neurology, 2020
Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.
Wang C et al.
Human Molecular Genetics, 2020
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Wang C et al.
Nature Communications, 2019
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
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
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
[Clinical and genetic special features of Niemann-Pick disease, type C].
Zakharova EIu et al.
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, 2012
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2011
The NPC1 protein: structure implies function.
Scott C et al.
Biochimica Et Biophysica Acta, 2004
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
Millat G 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