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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
BACKGROUND Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson'sExpand
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Mutations in COQ2 in familial and sporadic multiple-system atrophy.
BACKGROUND Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidalExpand
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Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations
We report a 3-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy (MSA) with compound heterozygous nonsense (R387X) and missense (V393A) mutations inExpand
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Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation
To elucidate the genetic epidemiology of familial amyotrophic lateral sclerosis (FALS) in the Japanese population, we conducted whole-exome sequencing analysis of 30 FALS families in whom causativeExpand
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
We aimed to find a new causative gene and elucidate the molecular mechanisms underlying a new type of hereditary spastic paraplegia (HSP). Patients with HSP were recruited from the Japan SpasticExpand
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Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely ZellwegerExpand
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Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1
Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation ofExpand
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Plasma Coenzyme Q10 Levels and Multiple System Atrophy-Reply.
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Efficacy of Acetamiprid 2% Granule against Diamondback Moth on Cabbage by Soil Treatment
Acetamiprid, (E)-N 1 [(6-chloro-3-pyridyl)methyl] -N 2 -cyano-N 1 -methylacetamidine, possesses a broad insecticidal spectrum and excellent systemic activity. For the purpose of finding the practicalExpand
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