Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions

Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions

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http://www.wikidata.org/entity/Q28279254
Involvement of aspartoacylase in tremor expression in rats.Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.Clinical applications involving CNS gene transfer.A Novel Mutation in Aspartoacylase Gene; Canavan Disease.Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan LeukodystrophySeverity of experimental traumatic brain injury modulates changes in concentrations of cerebral free amino acids.Whole-Brain N-Acetylaspartate Concentration Is Preserved during Mild Hypercapnia Challenge.Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease.Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model.Neural-specific deletion of mitochondrial p32/C1qbp leads to leukoencephalopathy due to undifferentiated oligodendrocyte and axon degeneration.Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme.Canavan disease - unusual imaging features in a child with mild clinical presentation.Structural modeling of p.V31F variant in the aspartoacylase gene.Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model.Atypical clinical and radiological course of a patient with Canavan disease.
P2860

Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions

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http://www.wikidata.org/entity/Q28279254
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2013 nî lūn-bûn
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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի ապրիլին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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Canavan disease, a rare early- ...... ossible clinical interventions
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Canavan disease, a rare early- ...... ossible clinical interventions
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Canavan disease, a rare early- ...... ossible clinical interventions
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10.1016/J.BIOCHI.2012.10.023
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