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
Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes.
Çapan ÖY et al.
Seizure, 2024
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
Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach.
Simancas Escorcia V et al.
Frontiers in Endocrinology, 2021
Sea-blue histiocytes in the bone marrow of a patient with Niemann-Pick disease type C2.
Fenomanana J et al.
Annales De Biologie Clinique, 2020
Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.
Zahedi Abghari F et al.
Medical Journal of the Islamic Republic of Iran, 2019
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y et al.
Orphanet Journal of Rare Diseases, 2018
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
Topçu M et al.
Molecular Diagnosis & Therapy, 2017
NPC1, intracellular cholesterol trafficking and atherosclerosis.
Yu XH et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes.
Wang ML et al.
Cell Metabolism, 2010
Cholesterol involvement in the pathogenesis of neurodegenerative diseases.
Liu JP et al.
Molecular and Cellular Neurosciences, 2010
NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes.
Infante RE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L et al.
Clinical Genetics, 2007
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
Millat G et al.
Molecular Genetics and Metabolism, 0
Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.
Alavi A et al.
Molecular Genetics and Metabolism, 0
Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type C.
Koç Yekedüz M et al.
Clinical Neuropharmacology, 0