Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.
Brémovà-Ertl T et al.
Frontiers in Neurology, 2025
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
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 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
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
29575536 (PubMed )
Supplement: GCC-57-366-s004.xlsx › MSI
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
Role of Niemann-Pick Type C Disease Mutations in Dementia.
Cupidi C et al.
Journal of Alzheimer's Disease : Jad, 2017
The Spectrum of Niemann-Pick Type C Disease in Greece.
Mavridou I et al.
Jimd Reports, 2017
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2015
25888393 (PubMed )
Supplement: 13023_2015_240_MOESM1_ESM.pdf
Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
Rodríguez-Pascau L et al.
Molecular Genetics and Metabolism, 2012
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
Fancello T et al.
Neurogenetics, 2009
Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.
Yoldas Celik M et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
Select a paper to view details