• <em>ATP7A</em>-Related Copper Transport Disorders
• A diffusion tensor imaging analysis of white matter microstructures in non-operated craniosynostosis patients
• A novel nonsense <em>ATP7A</em> pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
• A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
• ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene
• ATP7A mutation with occipital horns and distal motor neuropathy: A continuum
• ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes
• Chronic Pleural Effusion in Ventriculoperitoneal Shunt due to Diaphragmatic CSF Fistula. Report of a case treated by Endoscopic Choroid Plexus Coagulation and literature review
• Classification and differential diagnosis of Wilson's disease
• Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
• Dandy-Walker Variant Associated with Bilateral Congenital Cataract
• Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
• Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature
• Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1
• From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations
• Incidental and Clinical Significance of Slit Ventricles in Fixed Pressure Valves
• Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration
• Ipsilateral Limb Extension of Referred Trigeminal Facial Pain due to Greater Occipital Nerve Entrapment: A Case Report
• Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
• Menkes disease and response to copper histidine: An Indian case series
• Multiple <em>de novo</em> gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms
• Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant
• Occipital Horn Syndrome as a Result of Splice Site Mutations in <em>ATP7A</em>. No Activity of <em>ATP7A</em> Splice Variants Missing Exon 10 or Exon 15
• Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15
• Persistent neurological symptoms and elevated intracranial pressures in a previously healthy host with cryptococcal meningitis
• Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease
• Posterior Fossa Horns in Hurler Syndrome: Prevalence and Regression
• Report of a novel ATP7A mutation causing distal motor neuropathy
• Risk factors for unchanged ventricles during pediatric shunt malfunction
• The Course and Interaction of Ventriculomegaly and Cerebellar Tonsillar Herniation in Crouzon Syndrome over Time
• The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis
• The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease
• Wilson disease and related copper disorders