Search Results - "Onodera, O"
-
1
Elevated serum pentraxin 3 levels might predict the diagnosis of branch atheromatous disease at a very early stage
Published in European journal of neurology (01-07-2020)“…Background and purpose Branch atheromatous disease (BAD) is one of the stroke subtypes caused by occlusion at the origin of a deep penetrating artery of the…”
Get full text
Journal Article -
2
Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation
Published in European journal of neurology (01-01-2017)“…Background and purpose The clinical characteristics of colony stimulating factor 1 receptor (CSF1R) related adult‐onset leukoencephalopathy with axonal…”
Get full text
Journal Article -
3
Diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation
Published in European journal of neurology (01-01-2018)“…Background and purpose To establish and validate diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to…”
Get full text
Journal Article -
4
iPatax: iPad® application software for evaluating ataxia
Published in Journal of the neurological sciences (01-10-2017)Get full text
Journal Article -
5
Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
Published in American journal of neuroradiology : AJNR (01-01-2017)“…Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is a rare neurodegenerative disease resulting from mutations in the colony stimulating…”
Get full text
Journal Article -
6
Morphological characterisation of glial and neuronal tau pathology in globular glial tauopathy (Types II and III)
Published in Neuropathology and applied neurobiology (01-06-2020)“…Aims Globular glial tauopathy (GGT) is a new category within the 4‐repeat tauopathies that is characterised neuropathologically by tau‐positive globular glial…”
Get full text
Journal Article -
7
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
Published in Neurology (19-08-2008)“…Spinocerebellar ataxia type 15 (SCA15) is a progressive neurodegenerative disorder characterized by pure cerebellar ataxia, very slow progression, and distinct…”
Get full text
Journal Article -
8
The phenotype spectrum of Japanese multiple system atrophy
Published in Journal of neurology, neurosurgery and psychiatry (01-11-2010)“…ObjectiveThis study aimed to determine the spectrum of pathological involvement of the striatonigral (StrN) and olivopontocerebellar (OPC) systems in Japanese…”
Get full text
Journal Article -
9
A NOVEL MUTATION IN THE HTRA1 GENE CAUSES CARASIL WITHOUT ALOPECIA
Published in Neurology (12-04-2011)Get full text
Journal Article -
10
Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease
Published in Journal of neurology, neurosurgery and psychiatry (01-09-2009)“…Background:The occurrence of duplications of the amyloid precursor protein gene (APP) has been described in European families with early-onset familial…”
Get full text
Journal Article -
11
Generation of intracellular domain of insulin receptor tyrosine kinase by γ-secretase
Published in Biochemical and biophysical research communications (17-08-2007)“…The proteolytic cleavage of a precursor protein into α- and β-subunits by furin is required to form functional insulin receptor (IR). In this study, we…”
Get full text
Journal Article -
12
Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia
Published in Journal of medical genetics (01-12-2007)“…Background:In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth…”
Get full text
Journal Article -
13
Co-occurrence of argyrophilic grain disease in sporadic amyotrophic lateral sclerosis
Published in Neuropathology and applied neurobiology (01-02-2012)“…K. Soma, Y.‐J. Fu, K. Wakabayashi, O. Onodera, A. Kakita and H. Takahashi (2012) Neuropathology and Applied Neurobiology38, 54–60 Co‐occurrence of argyrophilic…”
Get full text
Journal Article -
14
Clinical and electrophysiologic correlates of IVIg responsiveness in CIDP
Published in Neurology (26-04-2005)“…To identify clinical and electrophysiologic features related to IV immunoglobulin (IVIg) responsiveness in chronic inflammatory demyelinating polyneuropathy…”
Get full text
Journal Article -
15
Demyelinating and axonal features of Charcot–Marie–Tooth disease with mutations of myelin‐related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients
Published in Brain (London, England : 1878) (01-01-2003)“…Three genes commonly causing Charcot–Marie–Tooth disease (CMT) encode myelin‐related proteins: peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ)…”
Get full text
Journal Article -
16
β-Synuclein gene alterations in dementia with Lewy bodies
Published in Neurology (14-09-2004)“…To determine whether mutations in the genes for alpha-synuclein or beta-synuclein are responsible for dementia with Lewy bodies (DLB), a disorder closely…”
Get full text
Journal Article -
17
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
Published in Nature genetics (01-01-1994)“…Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus,…”
Get full text
Journal Article -
18
Age associated axonal features in HNPP with 17p11.2 deletion in Japan
Published in Journal of neurology, neurosurgery and psychiatry (01-08-2005)“…Objective: To clarify age related changes in the clinicopathological features of hereditary neuropathy with liability to pressure palsy (HNPP) in Japanese…”
Get full text
Journal Article -
19
Amino acid sequences flanking polyglutamine stretches influence their potential for aggregate formation
Published in Neuroreport (29-10-2001)“…Expanded polyglutamine stretches have been shown to form aggregates and to be toxic to cells. In this study, we hypothesized that amino acid sequences flanking…”
Get full text
Journal Article -
20
The gene for Machado-Joseph disease maps to human chromosome 14q
Published in Nature genetics (01-07-1993)“…Machado-Joseph disease (MJD) is an autosomal dominant, multisystem neurodegenerative disorder involving predominantly cerebellar, pyramidal, extrapyramidal,…”
Get full text
Journal Article