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: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings.
Tama Viteri FA et al.
The International Journal of Neuroscience, 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
Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.
Chun MY et al.
Frontiers in Neurology, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
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
Cerebrotendinous xanthomatosis: clinical and imaging clues of a rare treatable cause of ataxia.
Magriço M et al.
Bmj Case Reports, 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
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
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell S et al.
Genes, 2021
A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
Takasone K et al.
Internal Medicine (tokyo, Japan), 2020
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
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J et al.
Molecular Genetics & Genomic Medicine, 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
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
Wong JC et al.
Journal of Inherited Metabolic Disease, 2018
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts.
Tibrewal S et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 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
[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].
Delstanche S et al.
Revue Medicale De Liege, 2013
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.
Koyama S et al.
Clinical Neurology and Neurosurgery, 2012
Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy.
Wang Z et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2007
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
[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