about
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxiaCAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1Mutations of optineurin in amyotrophic lateral sclerosisIdentification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.LRRK2 mutations and risk variants in Japanese patients with Parkinson's diseaseOrganization of the human orphan nuclear receptor Nurr1 gene.SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patientsInvestigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data.Analysis on the susceptibility genes in two chinese pedigrees with familial Parkinson's diseaseStructure and organization of the gene encoding human dopamine transporter.Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic featuresA polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population.Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutantExome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patientCerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer's disease.First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from ChinaMolecular cloning and characterization of a cDNA encoding a novel basic helix-loop-helix protein structurally related to Neuro-D/BHF1.Optineurin and amyotrophic lateral sclerosis.Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series.Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women.Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs.Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.Serum deprivation alters the expression and the splicing at exons 7, 8 and 15 of the beta-amyloid precursor protein in the C6 glioma cell line.Homozygosity for Machado-Joseph disease gene enhances phenotypic severityPLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement.DYT6 in Japan-genetic screening and clinical characteristics of the patients.Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy.Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations.Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.Influence of polymorphisms in the genes for cytokines and glutathione S-transferase omega on sporadic Alzheimer's disease.Glutathione-S-transferase-1 and interleukin-1beta gene polymorphisms in Japanese patients with Parkinson's disease.Brain-derived neurotrophic factor gene polymorphisms in Japanese patients with sporadic Alzheimer's disease, Parkinson's disease, and multiple system atrophy.Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations.No association between apolipoprotein E alleles and olivopontocerebellar atrophy.Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells.
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P50
description
researcher
@en
wetenschapper
@nl
name
Hideshi Kawakami
@en
Kawakami H
@nl
type
label
Hideshi Kawakami
@en
Kawakami H
@nl
altLabel
Kawakami H
@en
prefLabel
Hideshi Kawakami
@en
Kawakami H
@nl
P106
P31
P496
0000-0002-1405-0901