An Overview and Update ofATP7AMutations Leading to Menkes Disease and Occipital Horn Syndrome

Congenital abnormalities in Japanese patients with Menkes disease

(2012) Yan-Hong Gu et al.   BRAIN & DEVELOPMENT

Clinical expression of Menkes disease in females with normal karyotype

(2012) Lisbeth Møller et al.   Orphanet Journal of Rare Diseases

P-Type ATPases

(2011) Michael G. Palmgren et al.   Annual Review of Biophysics

The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression

(2011) Willianne I. M. Vonk et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Clinical utility gene card for: Menkes disease

(2011) Zeynep Tümer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

(2011) Yong Hyuk Kim et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

Crystal structure of a copper-transporting PIB-type ATPase

(2011) Pontus Gourdon et al.   NATURE

Splice Site Mutations in the ATP7A Gene

(2011) Tina Skjørringe et al.   PLoS One

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

(2010) Marina L. Kennerson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain

(2010) Anthony Donsante et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical expression of Menkes syndrome in females

(2010) A.-M. Gerdes et al.   CLINICAL GENETICS

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization

(2010) James Beck et al.   CLINICAL GENETICS

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease

(2010) V Desai et al.   CLINICAL GENETICS

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease

(2010) Stephen G. Kaler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease

(2010) Maksim Kouza et al.   PHYSICAL CHEMISTRY CHEMICAL PHYSICS

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease

(2009) Stephen G. Kaler et al.   ANNALS OF NEUROLOGY

Menkes disease

(2009) Zeynep Tümer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Lyonization Effects of the t(X;16) Translocation on the Phenotypic Expression in a Rare Female With Menkes Disease

(2009) Pietro Sirleto et al.   PEDIATRIC RESEARCH

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R

(2008) Jingrong Tang et al.   MOLECULAR GENETICS AND METABOLISM

Neonatal Diagnosis and Treatment of Menkes Disease

(2008) Stephen G. Kaler et al.   NEW ENGLAND JOURNAL OF MEDICINE

In vivo correction of a Menkes disease model using antisense oligonucleotides

(2008) E. C. Madsen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Zebrafish Mutants calamity and catastrophe Define Critical Pathways of Gene–Nutrient Interactions in Developmental Copper Metabolism

(2008) Erik C. Madsen et al.   PLoS Genetics