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Vacuolar leukoencephalopathy with widespread astrogliosis in mice lacking transcription factor Nrf2Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defectsHyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal proteinMALDI imaging and in situ identification of integral membrane proteins from rat brain tissue sections.Age-related changes of myelin basic protein in mouse and human auditory nerve.Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy SyndromeRecessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.Whole exome sequencing in patients with white matter abnormalities.Imaging of adult leukodystrophies.Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.Global gene expression profiling reveals widespread yet distinctive translational responses to different eukaryotic translation initiation factor 2B-targeting stress pathways.A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients.Hypomyelination with atrophy of the basal ganglia and cerebellum: case report.A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder.Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
The latest on leukodystrophies.
@ast
The latest on leukodystrophies.
@en
type
label
The latest on leukodystrophies.
@ast
The latest on leukodystrophies.
@en
prefLabel
The latest on leukodystrophies.
@ast
The latest on leukodystrophies.
@en
P1476
The latest on leukodystrophies.
@en
P2093
Marjo S van der Knaap
Raphael Schiffmann
P304
P356
10.1097/00019052-200404000-00017
P577
2004-04-01T00:00:00Z