Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
about
Menkes disease: what a multidisciplinary approach can doMottled Mice and Non-Mammalian Models of Menkes DiseaseMenkes disease in affected females: the clinical disease spectrumTranslational research investigations on ATP7A: an important human copper ATPaseATP7A-related copper transport diseases-emerging concepts and future trendsEvaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlasesInherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.Inborn errors of copper metabolism.Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.Menkes disease presenting with epilepsia partialis continuaATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse modelIncreased frequency of congenital heart defects in Menkes diseaseIn utero copper treatment for Menkes disease associated with a severe ATP7A mutationCervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuseL-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse modelAn overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Epilepsy in children with Menkes disease: a systematic review of literature.A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotypeMutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
P2860
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P2860
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
@ast
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
@en
type
label
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
@ast
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
@en
prefLabel
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
@ast
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
@en
P2093
P2860
P1476
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
@en
P2093
Clarissa J Liew
Jacquelyn C Greenfield
Julia D Hicks
Stephen G Kaler
Susumu Sato
P2860
P2888
P304
P356
10.1007/S10545-010-9118-2
P577
2010-07-21T00:00:00Z