Occipital Horn Syndrome Latest Advances

Find the Latest Research About Occipital Horn Syndrome

Last Updated: 09/19/2026

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Found 97 publications

Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.

Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.

Journal: Diagnostics (Basel, Switzerland)
Published: March 15, 2026

Copper restriction unmasks axonal degeneration in a mouse model of X-linked hereditary motor neuropathy.

Copper restriction unmasks axonal degeneration in a mouse model of X-linked hereditary motor neuropathy.

Journal: Metallomics : integrated biometal science
Published: February 18, 2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Journal: Human molecular genetics
Published: December 23, 2025

Occipital spur: a common but underreported finding on lateral cephalograms-an observational study.

Occipital spur: a common but underreported finding on lateral cephalograms-an observational study.

Journal: Surgical and radiologic anatomy : SRA
Published: December 01, 2025

Safety and efficacy of droxidopa for dysautonomia in adults with Menkes disease and occipital horn syndrome in the USA: a randomised phase 1/2a crossover trial.

Safety and efficacy of droxidopa for dysautonomia in adults with Menkes disease and occipital horn syndrome in the USA: a randomised phase 1/2a crossover trial.

Journal: EClinicalMedicine
Published: November 20, 2025

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Journal: Genes
Published: July 30, 2025

Case Report: A male newborn with occipital horn syndrome.

Case Report: A male newborn with occipital horn syndrome.

Journal: F1000Research
Published: October 25, 2024

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

Journal: Journal of medical genetics
Published: April 18, 2024

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 01, 2024

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

Journal: European journal of medical genetics
Published: September 23, 2023

Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.

Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.

Journal: Journal of inherited metabolic disease
Published: March 08, 2023

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.

Journal: Journal of inherited metabolic disease
Published: November 28, 2022
Showing 1-12 of 97

Last Updated: 09/19/2026