Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
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Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsMutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporationUnraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegenerationNeuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and ManagementNeuroferritinopathy: From ferritin structure modification to pathogenetic mechanismIron-mediated aggregation and a localized structural change characterize ferritin from a mutant light chain polypeptide that causes neurodegeneration.Inborn errors of metabolism associated with psychosis: literature review and case-control study using exome data from 5090 adult individuals.Neuroferritinopathy: a new inborn error of iron metabolismExclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.Behavioral characterization of mouse models of neuroferritinopathy.A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits.FTL mutation in a Chinese pedigree with neuroferritinopathy.Abnormal iron homeostasis and neurodegeneration.The neuropsychiatry of hyperkinetic movement disorders: insights from neuroimaging into the neural circuit bases of dysfunction.Serum ferritin level changes in children with sickle cell disease on chronic blood transfusion are nonlinear and are associated with iron load and liver injury.Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunitiesMRI findings in neuroferritinopathy.Nigral iron elevation is an invariable feature of Parkinson's disease and is a sufficient cause of neurodegeneration.Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation.Huntington's disease phenocopies are clinically and genetically heterogeneous.Sonographic basal ganglia alterations are related to non-motor symptoms in multiple sclerosis.A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.Early neuropsychiatry features in neuroferritinopathy.A Selection of Important Genes and Their Correlated Behavior in Alzheimer's Disease
P2860
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P2860
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
description
2005 nî lūn-bûn
@nan
2005 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Neuroferritinopathy: missense ...... ilateral pallidal involvement.
@ast
Neuroferritinopathy: missense ...... ilateral pallidal involvement.
@en
type
label
Neuroferritinopathy: missense ...... ilateral pallidal involvement.
@ast
Neuroferritinopathy: missense ...... ilateral pallidal involvement.
@en
prefLabel
Neuroferritinopathy: missense ...... ilateral pallidal involvement.
@ast
Neuroferritinopathy: missense ...... ilateral pallidal involvement.
@en
P2093
P2860
P50
P1433
P1476
Neuroferritinopathy: missense ...... bilateral pallidal involvement
@en
P2093
P2860
P304
P356
10.1212/01.WNL.0000178224.81169.C2
P407
P577
2005-08-01T00:00:00Z