Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
about
CCSVI and MS: no meaning, no factMetabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutationsDifferences in globus pallidus neuronal firing rates and patterns relate to different disease biology in children with dystonia.PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis.Quantitative susceptibility mapping by inversion of a perturbation field model: correlation with brain iron in normal aging.Self-Mutilation in Neurodegeneration with Brain Iron Accumulation.A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.First report of co-morbidity of pantothenate kinase-associated neurodegeneration and three types of chronic hemolytic anemias.On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Two unusual cases of PLA2G6-associated neurodegeneration from IndiaNovel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen.Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunitiesIron neurochemistry in Alzheimer's disease and Parkinson's disease: targets for therapeutics.Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician.Iron promotes protein insolubility and aging in C. elegans.Iron regulatory protein (IRP)-iron responsive element (IRE) signaling pathway in human neurodegenerative diseases.Proportion of life lived with dystonia inversely correlates with response to pallidal deep brain stimulation in both primary and secondary childhood dystonia.PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.The subthalamic nucleus at 7.0 Tesla: evaluation of sequence and orientation for deep-brain stimulation.Visualization of the internal globus pallidus: sequence and orientation for deep brain stimulation using a standard installation protocol at 3.0 Tesla.Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration.Infantile neuroaxonal dystrophy caused by uniparental disomy.A pilot trial of deferiprone in pantothenate kinase-associated neurodegeneration patients.Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report.
P2860
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P2860
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
@ast
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
@en
type
label
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
@ast
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
@en
prefLabel
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
@ast
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
@en
P2093
P2860
P1476
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
@en
P2093
Alasdair McNeill
Eamonn R Maher
Jean-Pierre Lin
Manju A Kurian
P2860
P304
P356
10.1111/J.1469-8749.2011.03955.X
P577
2011-05-01T00:00:00Z