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Yasuo Nakahara

Researcher at University of Tokyo

Publications -  24
Citations -  599

Yasuo Nakahara is an academic researcher from University of Tokyo. The author has contributed to research in topics: Fibrodysplasia ossificans progressiva & Rehabilitation. The author has an hindex of 9, co-authored 20 publications receiving 517 citations. Previous affiliations of Yasuo Nakahara include Tokyo Medical and Dental University & Teikyo University.

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Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration

Jun Mitsui, +74 more
TL;DR: Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease, providing evidence of a role of impaired COQ1 activities in the pathogenesis of this disease.
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Variants associated with Gaucher disease in multiple system atrophy

Jun Mitsui, +70 more
TL;DR: In this paper, the role of GBA variants in multiple system atrophy (MSA) was investigated in a large case-control series, and the results indicated that, as in PD and DLB, GBA-causing variants are associated with MSA.
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Appropriate data cleaning methods for genome-wide association study

TL;DR: The criteria required for the appropriate cleaning of 389 unrelated healthy Japanese samples analyzed using the GeneChip Human Mapping 500K Array Set for GWAS were investigated and it was found that appropriate data cleaning could be achieved using these four parameters.
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Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1

TL;DR: It is confirmed that PCARP is caused by mutations in FLVCR1, which cosegregated with the disease and a Japanese consanguineous family with PCARP was described.
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SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data

TL;DR: In this article, microarray-based single nucleotide polymorphism (SNP) data are becoming more widely used as markers for linkage analysis in the identification of loci for disease-associated genes.