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
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis.
Guoliang Y et al.
Frontiers in Neurology, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report.
Zhao W et al.
Medicine, 2024
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Badura-Stronka M et al.
Clinical Genetics, 2022
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
Traboulsee AL et al.
Human Genetics, 2017
Pathophysiology of cerebrotendinous xanthomatosis.
Koyama S et al.
Rinsho Shinkeigaku = Clinical Neurology, 2016
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
Appadurai V et al.
Molecular Genetics and Metabolism, 2015
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA et al.
Genetics Research, 2015
[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].
Delstanche S et al.
Revue Medicale De Liege, 2013
Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.
Taboada M et al.
Bmc Medical Informatics and Decision Making, 2012
Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup.
Kauffman MA et al.
The American Journal of the Medical Sciences, 2012
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
Pilo-de-la-Fuente B et al.
European Journal of Neurology, 2011
[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis].
Pilo de la Fuente B et al.
Neurologia (barcelona, Spain), 2011
Neurophysiological study in cerebrotendinous xanthomatosis.
Pilo B et al.
Muscle & Nerve, 2011
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
Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.
Bartholdi D et al.
Journal of Neurology, 2004
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.
Clayton PT et al.
Journal of Inherited Metabolic Disease, 2002
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Verrips A et al.
Brain : a Journal of Neurology, 2000
[Parkinsonism associated with cerebrotendinous xanthomatosis].
Shibata N et al.
Rinsho Shinkeigaku = Clinical Neurology, 1990
[A case of cerebrotendinous xanthomatosis with convulsive seizures].
Matsumuro K et al.
Rinsho Shinkeigaku = Clinical Neurology, 1990
[A case of familial type IIa hyperlipoproteinemia with the clinical features similar to cerebrotendinous xanthomatosis].
Imasato M et al.
Rinsho Shinkeigaku = Clinical Neurology, 1987
[Two cases of familial cerebrotendinous xanthomatosis--intrahepatic enzyme assay and therapeutic trial with chenodeoxycholic acid].
Orimo S et al.
Rinsho Shinkeigaku = Clinical Neurology, 1984