Research graph
References from Clinical and molecular spectrum of Niemann-Pick disease type C patients in India. Local targets link to admitted publications; unresolved targets remain external evidence.
Niemann-Pick disease, type C: diagnosis, management and disease-targeted therapies in development
10.1016/j.spen.2021.100879 · 2021 · External reference
Niemann-Pick disease type C
10.1186/1750-1172-5-16 · 2010 · External reference
Molecular genetics of Niemann–Pick type C disease in Italy: an update on 105 patients and description of 18 NPC1 novel variants
10.3390/jcm9030679 · 2020 · External reference
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
10.1086/302626 · 1999 · External reference
The extending Spectrum of NPC1-related human disorders: from Niemann–Pick C1 disease to obesity
10.1210/er.2017-00176 · 2018 · External reference
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
10.1016/j.ymgmr.2024.101124 · 2024 · External reference
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
10.1186/s40246-024-00613-9 · 2024 · External reference
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine
10.1186/s13023-026-04195-8 · 2026 · External reference
Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre
10.1186/s13023-024-03300-z · 2024 · External reference
Plasma chitotriosidase activity in children with lysosomal storage disorders
10.1007/s12098-009-0249-0 · 2010 · External reference
Quantification of low density lipoprotein binding and cholesterol accumulation by single human fibroblasts using fluorescence microscopy
10.1016/s0022-2275(20)39846-1 · 1980 · External reference
Niemann-Pick type C disease
2008 · External reference
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility
10.1007/8904_2013_244 · 2014 · External reference
Lysosomal storage disorders in Indian children with neuroregression attending a genetic center
10.1007/s13312-015-0768-x · 2015 · External reference
Fast and accurate short read alignment with burrows–wheeler transform
10.1093/bioinformatics/btp324 · 2009 · External reference
The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
10.1101/gr.107524.110 · 2010 · External reference
Next-generation diagnostics and disease-gene discovery with the exomiser
10.1038/nprot.2015.124 · 2015 · External reference
Dynamut2 : assessing changes in stability and flexibility upon single and multiple point missense mutations
10.1002/pro.3942 · 2021 · External reference
Arpeggio: a web server for calculating and visualising interatomic interactions in protein structures
10.1016/j.jmb.2016.12.004 · 2017 · External reference
Clinical disease characteristics of patients with Niemann-Pick disease type C: findings from the international Niemann-Pick disease registry (INPDR)
10.1186/s13023-022-02200-4 · 2022 · External reference
Niemann-Pick type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage
10.1194/jlr.p013524 · 2011 · External reference
Identification and classification of rare variants in NPC1 and NPC2 in Quebec
10.1038/s41598-021-89630-5 · 2021 · External reference
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
10.1038/s41431-023-01408-7 · 2023 · External reference
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature
10.1186/s12881-017-0367-x · 2017 · External reference
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease type C: a final report of the NPC registry
10.1186/s13023-020-01363-2 · 2020 · External reference
Niemann-Pick type C disease—the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment
10.1192/pb.bp.116.054072 · 2017 · External reference
The Spectrum of Niemann-Pick type C disease in Greece
10.1007/8904_2016_41 · 2017 · External reference
Consensus clinical management guidelines for niemann-pick disease type C
10.1186/s13023-018-0785-7 · 2018 · External reference
The natural history of Niemann-Pick disease type C in the UK
10.1007/s10545-006-0384-7 · 2007 · External reference
The cherry-red spot in Tay-Sachs and other storage diseases
10.1002/ana.410170409 · 1985 · External reference
Beyond the cherry-red spot: ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders
10.1016/j.survophthal.2013.02.005 · 2014 · External reference
The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update
10.1023/b:boli.0000043025.17721.fc · 2004 · External reference
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
10.1007/s10545-006-0363-3 · 2006 · External reference
Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect
10.1111/j.1600-0854.2010.01046.x · 2010 · External reference
Misdiagnosis of Niemann-Pick disease type C as Gaucher disease
10.1007/s10545-010-9214-3 · 2010 · External reference
Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test
2015 · External reference
Genetic and laboratory diagnostic approach in Niemann Pick disease type C
10.1007/s00415-014-7386-8 · 2014 · External reference
Systematic evaluation of sanger validation of next-generation sequencing variants
10.1373/clinchem.2015.249623 · 2016 · External reference
Nonsense-mediated mRNA decay in humans at a glance
10.1242/jcs.181008 · 2016 · External reference
Structural insights into the Niemann-Pick C1 (NPC1)-mediated cholesterol transfer and ebola infection
10.1016/j.cell.2016.05.022 · 2016 · External reference
Structure of human Niemann–Pick C1 protein
10.1073/pnas.1607795113 · 2016 · External reference
3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport
10.1073/pnas.1711716114 · 2017 · External reference
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain
10.1371/journal.pcbi.1007554 · 2020 · External reference
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
10.1038/s41525-023-00365-w · 2023 · External reference
ClinGen Sequence Variant Interpretation Working Group. The ACMG/AMP reputable source criteria for the interpretation of sequence variants
10.1038/gim.2018.42 · 2018 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
