Associated Papers
Ethics in pre-ART genetics: a missed X-linked Menkes disease case.
Gerdes AA et al.
Journal of Assisted Reproduction and Genetics, 2023
Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.
Møller LB et al.
Frontiers in Molecular Neuroscience, 2021
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.
Mhaske A et al.
Computational and Structural Biotechnology Journal, 2020
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.
Beyens A et al.
Genes, 2019
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
de Gemmis P et al.
Metabolic Brain Disease, 2017
ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.
Yi L et al.
Annals of the New York Academy of Sciences, 2014
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
Vonk WI et al.
Cellular and Molecular Life Sciences : Cmls, 2012
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Møller LB et al.
Biochimie, 2009
Neonatal diagnosis and treatment of Menkes disease.
Kaler SG et al.
The New England Journal of Medicine, 2008
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
de Bie P et al.
Journal of Medical Genetics, 2007
Functional copper transport explains neurologic sparing in occipital horn syndrome.
Tang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
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