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Article
Neuropathological analysis in spinal muscular atrophy type II
We performed a neuropathological analysis, including in situ nick end labeling (ISEL) and immunohistochemistry, of two cases of clinicogenetically confirmed infantile spinal muscular atrophy (SMA) type II. Bot...
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Article
Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy
The childhood cerebral form of X-linked adrenoleukodystrophy (X-ALD) is a severe congenital metabolic disease without a definite effective therapy except for hematopoietic stem cell transplantation in the app...
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Article
Hemimegalencephaly: signal changes suggesting abnormal myelination on MRI
We reviewed the MRI of 17 patients with hemimegalencephaly to investigate abnormal myelination in this condition. On images of seven patients aged 18 months or less, the white matter on the affected side sugg...
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Article
Experimental production of leptomeningeal heterotopias from dissociated fetal tissue
Subarachnoid heterotopias were produced experimentally in rats by intracisternal injection of dissociated fetal brain tissue. Heterotopias contained neurons and glial tissue and also mesodermal tissue includin...
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Article
Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation
Marked intrauterine developmental retardation in a fetal case of Seckel syndrome was morphologically defined in the 29th week of gestation by comparing with a large number of length-matched and age-matched con...
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Article
In vitro activation of the pyruvate dehydrogenase complex in human muscle by a broad specificity protein phosphatase
