Search Results - "MAKIFUCHI, TAKAO"
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1
Lower Cranial Dystonia with Inflated Cheeks: A Case of Dystonic Respiratory Failure
Published in Internal Medicine (01-06-2023)“…We herein report a 76-year-old woman who developed lower cranial dystonia with a peculiar appearance of cheek inflation. The patient showed strong contraction…”
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2
Coexistence of Huntington’s disease and amyotrophic lateral sclerosis: a clinicopathologic study
Published in Acta neuropathologica (01-11-2012)“…We report a retrospective case series of four patients with genetically confirmed Huntington’s disease (HD) and sporadic amyotrophic lateral sclerosis (ALS),…”
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3
Prefrontal Abnormality of Schizophrenia Revealed by DNA Microarray: Impact on Glial and Neurotrophic Gene Expression
Published in Annals of the New York Academy of Sciences (01-10-2004)“…: DNA microarrays with isotope labeling from gene‐specific primers enable sensitive detection of rare mRNAs, including neurotrophin and cytokine mRNAs in the…”
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4
Autotaxin expression is enhanced in frontal cortex of Alzheimer-type dementia patients
Published in Neuroscience letters (29-05-2006)“…We searched for genes differentially expressed in the frontal cortices of Alzheimer-type dementia (ATD) patients compared with those of non-ATD controls using…”
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5
Intracellular Aβ42 activates p53 promoter: a pathway to neurodegeneration in Alzheimer's disease
Published in The FASEB journal (01-02-2005)Get full text
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6
Reader response: Lymphoplasmacyte-rich meningioma involving the whole intracranial dura mater
Published in Neurology (05-03-2019)Get full text
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7
A decrease in interleukin-1 receptor antagonist expression in the prefrontal cortex of schizophrenic patients
Published in Neuroscience research (01-07-2003)“…Interleukin-1 (IL-1) mediates psychological stress responses by regulating monoamine metabolism and secretion of corticotropin-releasing factor, and is…”
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8
Lower Cranial Dystonia with Inflated Cheeks: A Case of Dystonic Respiratory Failure
Published in Internal Medicine (2023)“…We herein report a 76-year-old woman who developed lower cranial dystonia with a peculiar appearance of cheek inflation. The patient showed strong contraction…”
Get full text
Journal Article -
9
p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis
Published in Clinica chimica acta (01-12-2021)“…•Homozygous mutations were identified in two unrelated patients with Kufs disease.•Missense mutation was found in CLN6 exon 3 (c.231C > G,…”
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10
Brain hydrogen sulfide is severely decreased in Alzheimer's disease
Published in Biochemical and biophysical research communications (24-05-2002)“…Although hydrogen sulfide (H 2S) is generally thought of in terms of a poisonous gas, it is endogenously produced in the brain from cysteine by cystathionine…”
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11
Distinct Pathological Features of the Gallyas- and Tau-positive Glia in the Parkinsonism-Dementia Complex and Amyotrophic Lateral Sclerosis of Guam
Published in Journal of neuropathology and experimental neurology (01-03-1997)“…We examined 50 patients with parkinsonism-dementia complex of Guam (Guam PDC). 10 Guamanian patients with amyotrophic lateral sclerosis (ALS), 5 patients with…”
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12
Progressive supranuclear palsy on Guam
Published in Acta neuropathologica (01-11-2001)“…This is the first report demonstrating that progressive supranuclear palsy (PSP) exists on Guam. This 75-year-old Guamanian Chamorro patient with slight…”
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Conference Proceeding Journal Article -
13
Spinocerebellar degeneration: Discrepancies between clinical and pathological diagnoses
Published in Neuropathology (01-08-2016)“…To improve the diagnostic accuracy of sporadic spinocerebellar degeneration (SCD), we assessed the clinical and pathological data of 1494 consecutive autopsy…”
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14
Amyotrophic lateral sclerosis of Guam: the nature of the neuropathological findings
Published in Acta neuropathologica (01-11-1994)“…To elucidate the fundamental differences and similarities of the neuropathological features and etiopathogenesis of the amyotrophic lateral sclerosis (ALS) and…”
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15
The anterolateral funiculus in the spinal cord in amyotrophic lateral sclerosis
Published in Acta neuropathologica (01-09-1995)“…We carried out a morphometric study on the myelinated fibers in the anterolateral funiculus (ALF) and lateral corticospinal tract (LCS) in the cervical segment…”
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16
Pure akinesia manifested neuroleptic malignant syndrome : a clinical variant of progressive supranuclear palsy
Published in Acta neuropathologica (01-03-1997)“…An autopsy case of pure akinesia (PA) is reported. The patient manifested L-dopa-unresponsive akinesia without accompanying rigidity, tremor, eye movement…”
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17
A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A
Published in Acta neuropathologica (2009)“…We report the first autopsy case of genetically confirmed, autosomal-dominant chorea-acanthocytosis (AD-ChAc), showing a heterozygous mutation (G–A) at…”
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18
A Family with Adult Type Ceroid Lipofuscinosis (Kufs' Disease) and Heart Muscle Disease: Report of Two Autopsy Cases
Published in Internal Medicine (1995)“…Two cases in a family with Kufs' disease had lethal arrhythmias and heart muscle disease. Autopsy findings showed an abundant accumulation of lipofuscin-like…”
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19
Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases
Published in FEBS letters (23-05-2005)“…Point mutations in mitochondrial (mt) tRNA genes are associated with a variety of human mitochondrial diseases. We have shown previously that mt tRNA Leu(UUR)…”
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20
Selective reduction of a PDZ protein, SAP‐97, in the prefrontal cortex of patients with chronic schizophrenia
Published in Journal of neurochemistry (01-11-2002)“…Many postsynaptic density proteins carrying postsynaptic density‐95/discs large/zone occludens‐1 (PDZ) domain(s) interact with glutamate receptors to control…”
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