Associated Papers
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T et al.
The New England Journal of Medicine, 2024
38294974 (PubMed )
Supplement: nejmoa2310151_appendix.pdf
Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease.
Groenen AG et al.
Journal of Lipid Research, 2022
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
33139814 (PubMed )
Supplement: 41598_2020_75919_MOESM2_ESM.xlsx › LOF_and_nonsynonymous_mutations
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Musalkova D et al.
Orphanet Journal of Rare Diseases, 2020
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
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
26890452 (PubMed )
Supplement: gim2015208x1.zip › S1_Table.xls › Sheet1
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
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
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
36264126 (PubMed )
Supplement: supplement_1.docx
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