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
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.
Hanson J et al.
Neurology International, 2025
Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis.
Sixto-López Y et al.
Scientific Reports, 2025
Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice.
Kim J et al.
Frontiers in Psychiatry, 2025
Efficient variant phasing utilizing a replication cycle reaction system.
Mitsutake A et al.
Genetics in Medicine Open, 2025
Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report.
Zhao W et al.
Medicine, 2024
Cerebrotendinous xanthomatosis: a literature review and case study.
Matta A et al.
Frontiers in Cardiovascular Medicine, 2024
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report.
Chang YY et al.
World Journal of Clinical Cases, 2022
Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
Koyama S et al.
Bmc Neurology, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
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
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I et al.
Molecular Genetics and Metabolism Reports, 2021
Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.
Cao LX et al.
World Journal of Clinical Cases, 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
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
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis.
Miyamoto M et al.
Case Reports in Neurological Medicine, 2019
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Jacinto-Scudeiro LA et al.
Frontiers in Neurology, 2019
Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots.
Hashimoto T et al.
Internal Medicine (tokyo, Japan), 2018
Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
Sasamura A et al.
Internal Medicine (tokyo, Japan), 2018
Nationwide survey on cerebrotendinous xanthomatosis in Japan.
Sekijima Y et al.
Journal of Human Genetics, 2018
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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.
Yoshinaga T et al.
Internal Medicine (tokyo, Japan), 2014
[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].
Delstanche S et al.
Revue Medicale De Liege, 2013
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
[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
A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels.
Takahashi M et al.
Journal of Clinical Lipidology, 0