Skip to search formSkip to main contentSkip to account menu
  • Publications
  • Influence
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
View on Elsevier
Prospective 10-year surveillance of human prion diseases in Japan.
TLDR
A frequent occurrence of dura mater graft-associated Creutzfeldt-Jakob disease, and unique phenotypes of sporadic Creutzfelder disease and genetic prion diseases related to the characteristic distribution of prion protein gene mutations and polymorphisms in Japan, compared with those in western countries are revealed.
View on PubMed
Familial amyotrophic lateral sclerosis and parkinsonism‐dementia complex of the Kii peninsula of Japan: Clinical and neuropathological study and tau analysis
TLDR
It is suggested that amyotrophic lateral sclerosis and parkinsonism‐dementia complex of this family may be phenotypic variants of a tauopathy caused by genetic abnormalities, and the siblings were neuropathologically similar despite their different clinical manifestations.
View on Wiley
Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.
TLDR
Strong evidence is discovered for the localization of the AR-JP gene at chromosome 6q25, including the SOD2 locus, by linkage analysis of diallelic polymorphism of the Mn-superoxide dismutase gene (SOD2).
View on PubMed
Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected…
TLDR
The findings indicate that loss of function of the Parkin protein results in the clinical phenotype of AR‐JP and that subregions between introns 2 and 5 of the parkin gene are mutational hot spots.
View on Wiley
Large‐scale, multicenter study of cerebrospinal fluid tau protein phosphorylated at serine 199 for the antemortem diagnosis of Alzheimer's disease
TLDR
It is suggested that CSF/phospho‐tau199 may be a novel and logical biomarker in supporting antemortem diagnosis of AD.
View on Wiley
Activated brain regions in musicians during an ensemble: a PET study.
View on PubMed
Positron-emission tomography of brain regions activated by recognition of familiar music.
TLDR
The results reinforced the hypothesis reported in the literature as a result of group and case studies, that temporal lobe regions participate in the recognition of familiar melodies.
View on PubMed
Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis
View on Elsevier
Nationwide survey of acute juvenile female non-herpetic encephalitis in Japan: relationship to anti-N-methyl-D-aspartate receptor encephalitis.
TLDR
A nationwide survey provided data for the annual incidence and clinical features of AJFNHE in Japan and found that 46% returned to work and 37% returned home, but 7% died.
View on PubMed
...
...
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License