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Last Updated: 01/07/2026

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Found 873 publications

Cerebrotendinous Xanthomatosis: Unraveling Prominent Neuropsychiatric Symptoms and Mild Cognitive Impairment With Subsequent Clinical Improvement.

Cerebrotendinous Xanthomatosis: Unraveling Prominent Neuropsychiatric Symptoms and Mild Cognitive Impairment With Subsequent Clinical Improvement.

Journal: The primary care companion for CNS disorders
Published: November 07, 2025

Reprint of: Spotlight on timely diagnosis and treatment in subtle ataxia and spastic gait: Expert commentary.

Reprint of: Spotlight on timely diagnosis and treatment in subtle ataxia and spastic gait: Expert commentary.

Journal: Parkinsonism & related disorders
Published: November 06, 2025

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Journal: International journal of molecular sciences
Published: October 02, 2025

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy.

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy.

Journal: Health science reports
Published: September 07, 2025

Unmasking Cerebrotendinous Xanthomatosis: Clinical Recognition of a Treatable Cause of Progressive Ataxia.

Unmasking Cerebrotendinous Xanthomatosis: Clinical Recognition of a Treatable Cause of Progressive Ataxia.

Journal: Neurology
Published: August 25, 2025

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Journal: Cerebellum (London, England)
Published: August 05, 2025

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report.

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report.

Journal: Journal of orthopaedic case reports
Published: June 24, 2025

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.

Journal: Neurology international
Published: June 19, 2025

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.

Journal: Archives of endocrinology and metabolism
Published: June 18, 2025

Spotlight on timely diagnosis and treatment in subtle ataxia and spastic gait: Expert commentary.

Spotlight on timely diagnosis and treatment in subtle ataxia and spastic gait: Expert commentary.

Journal: Parkinsonism & related disorders
Published: June 10, 2025

Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving CYP27A1(C.526del).

Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving CYP27A1(C.526del).

Journal: JCEM case reports
Published: April 19, 2025

Regulatory News: Chenodiol for the Treatment of Cerebrotendinous Xanthomatosis: FDA Approval Summary.

Regulatory News: Chenodiol for the Treatment of Cerebrotendinous Xanthomatosis: FDA Approval Summary.

Journal: Journal of inherited metabolic disease
Published: April 14, 2025
Showing 1-12 of 873

Last Updated: 01/07/2026