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
Information Theory Analysis of CTX Shows Consistent Clinical Presentation.
Hanson J et al.
Journal of Inherited Metabolic Disease, 2025
Diagnostic Spectrum in an "Atypical" Atypical Parkinsonism Syndrome Cohort: A Single Center Experience.
Katragadda P et al.
Journal of Movement Disorders, 2025
Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis.
Guoliang Y et al.
Frontiers in Neurology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY et al.
Hgg Advances, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.
Katragadda P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024
Case report: Cerebrotendinous xanthomatosis treatment follow-up.
Ejsmont-Sowała K et al.
Frontiers in Neurology, 2024
Cerebrotendinous xanthomatosis: a literature review and case study.
Matta A et al.
Frontiers in Cardiovascular Medicine, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy.
Brlek P et al.
Biomedicines, 2023
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?
Butnariu LI et al.
Life (basel, Switzerland), 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
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.
Kısa PT et al.
Metabolic Brain Disease, 2021
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
Good JM et al.
Genes, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.
Rashvand Z et al.
Iranian Biomedical Journal, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I et al.
Molecular Genetics and Metabolism Reports, 2021
Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid.
Islam M et al.
Cerebellum & Ataxias, 2021
Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.
Höflinger P et al.
Journal of Lipid Research, 2021
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
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.
Lipiński P et al.
Frontiers in Pediatrics, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.
Lipiński P et al.
Frontiers in Pediatrics, 2020
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Shakya S et al.
Clinical Genetics, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
Catarino CB et al.
Journal of Neurology, 2018
A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.
Rossi M et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2018
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.
Musleh M et al.
Eye (london, England), 2016
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.
Gillespie RL et al.
Ophthalmology, 2016
[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].
Delstanche S et al.
Revue Medicale De Liege, 2013
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
Monitoring of 7α-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report.
Matysik S et al.
Chemistry and Physics of Lipids, 2011
Neurophysiological study in cerebrotendinous xanthomatosis.
Pilo B et al.
Muscle & Nerve, 2011
Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.
Bourkiza R et al.
Ophthalmic Genetics, 2010
Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up.
Price Evans DA et al.
Saudi Medical Journal, 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
[Cerebrotendinous xanthomatosis, a treatable metabolic disorder].
Heller R et al.
Der Nervenarzt, 2002
[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].
Lionnet C et al.
Revue Neurologique, 0