Associated Papers
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.
Kaler SG et al.
Molecular Genetics and Metabolism, 2026
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.
Joshi A et al.
Oncotarget, 2021
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
Stevens KE et al.
American Journal of Medical Genetics. Part A, 2020
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
Fujisawa C et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
Urological Problems in Patients with Menkes Disease.
Kim MY et al.
Journal of Korean Medical Science, 2019
High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.
Tsukamoto T et al.
Scientific Reports, 2017
Neuroimaging Changes in Menkes Disease, Part 1.
Manara R et al.
Ajnr. American Journal of Neuroradiology, 2017
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.
Cao B et al.
Metabolic Brain Disease, 2017
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T et al.
Scientific Reports, 2017
Menkes disease: what a multidisciplinary approach can do.
Ojha R et al.
Journal of Multidisciplinary Healthcare, 2016
Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
Yi L et al.
Human Molecular Genetics, 2015
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
Lee JS et al.
Brain & Development, 2015
Changes in body weight and height in survivors of Menkes disease.
Gu YH et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
Kaler SG
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
Clinical expression of Menkes disease in females with normal karyotype.
Møller LB et al.
Orphanet Journal of Rare Diseases, 2012
Crystal structure of a copper-transporting PIB-type ATPase.
Gourdon P et al.
Nature, 2011
Twenty-five novel mutations including duplications in the ATP7A gene.
Moizard MP et al.
Clinical Genetics, 2011
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Kaler SG et al.
Journal of Inherited Metabolic Disease, 2010
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
Tang J et al.
Molecular Genetics and Metabolism, 2008
A comparison of the mutation spectra of Menkes disease and Wilson disease.
Hsi G et al.
Human Genetics, 2004
Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.
Voskoboinik I et al.
Journal of Bioenergetics and Biomembranes, 2002
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
Gu YH et al.
American Journal of Medical Genetics, 2001
The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.
Cecchi C et al.
Human Molecular Genetics, 1997
The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.
Cecchi C et al.
Human Molecular Genetics, 1997
[Menkes disease: its clinical, biochemical and molecular diagnosis].
Aldecoa V et al.
Revista De Neurologia, 0