Associated Papers
Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.
Du K et al.
Cerebellum (london, England), 2026
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.
Hanson J et al.
Neurology International, 2025
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C et al.
Brain : a Journal of Neurology, 2023
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation.
Mahadevan N et al.
Cureus, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report.
Li ZR et al.
World Journal of Clinical Cases, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.
Jiang J et al.
Frontiers in Genetics, 2020
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Tao QQ et al.
Orphanet Journal of Rare Diseases, 2019
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
Wong JC et al.
Journal of Inherited Metabolic Disease, 2018
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
Appadurai V et al.
Molecular Genetics and Metabolism, 2015
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
Gallus GN et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006
Structural motif-based homology modeling of CYP27A1 and site-directed mutational analyses affecting vitamin D hydroxylation.
Prosser DE et al.
Biophysical Journal, 2006
Enzymes involved in the activation and inactivation of vitamin D.
Prosser DE et al.
Trends in Biochemical Sciences, 2004
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Verrips A et al.
Brain : a Journal of Neurology, 2000