Associated Papers
Clinical and neuroimaging features in a case of cerebrotendinous xanthomatosis with a CYP27A1 genotype newly identified in morocco: a literature review of African cases.
Ouskri A et al.
Neurogenetics, 2026
Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.
Du K et al.
Cerebellum (london, England), 2026
Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia.
Alsaleem BM et al.
Molecular Genetics and Metabolism Reports, 2025
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
O'Keefe E et al.
European Journal of Neurology, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.
Yahalom C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 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
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R et al.
Neurology. Genetics, 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
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.
Kısa PT et al.
Metabolic Brain Disease, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I et al.
Molecular Genetics and Metabolism Reports, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Parkinsonism with Normal Dopaminergic Presynaptic Terminals in Cerebrotendinous Xanthomatosis.
Li J et al.
Movement Disorders Clinical Practice, 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
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
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment.
DeBarber AE et al.
Journal of Lipid Research, 2018
Unusual genetic variants associated with hypercholesterolemia in Argentina.
Corral P et al.
Atherosclerosis, 2018
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
Stelten BML et al.
Journal of Inherited Metabolic Disease, 2018
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole.
Weissfeld T et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.
Larson A et al.
Jimd Reports, 2017
Pathophysiology of cerebrotendinous xanthomatosis.
Koyama S et al.
Rinsho Shinkeigaku = Clinical Neurology, 2016
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.
Di Taranto MD et al.
Metabolic Brain Disease, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Mallaret M et al.
Journal of Neurology, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
Huidekoper HH et al.
European Journal of Pediatrics, 2016
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
Appadurai V et al.
Molecular Genetics and Metabolism, 2015
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Schabhüttl M et al.
Journal of Neurology, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
[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 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
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 2011
Neurophysiological study in cerebrotendinous xanthomatosis.
Pilo B et al.
Muscle & Nerve, 2011
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.
Guyant-Maréchal L et al.
American Journal of Medical Genetics. Part A, 2005
Enzymes involved in the activation and inactivation of vitamin D.
Prosser DE et al.
Trends in Biochemical Sciences, 2004
Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
Moghadasian MH
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2004
[Cerebrotendinous xanthomatosis, a treatable metabolic disorder].
Heller R et al.
Der Nervenarzt, 2002