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Shin-ichi Tokushige

Researcher at University of Tokyo

Publications -  33
Citations -  209

Shin-ichi Tokushige is an academic researcher from University of Tokyo. The author has contributed to research in topics: Saccade & Parkinsonism. The author has an hindex of 7, co-authored 32 publications receiving 138 citations. Previous affiliations of Shin-ichi Tokushige include Kyorin University.

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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.

TL;DR: A 3-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy with compound heterozygous nonsense (R387X) and missense (V393A) mutations in COQ2 suggests the therapeutic potential of Ubiquinol for patients with MSA withCOQ2 mutations.
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Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.

TL;DR: The findings show that adult-onset Krabbe disease is characterized by isolated pyramidal tract impairment in the central nervous system, both neurophysiologically and radiologically.
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Rectal Ulcer in a Patient with VZV Sacral Meningoradiculitis (Elsberg Syndrome)

TL;DR: A 55-year-old woman with varicella-zoster virus (VZV) sacral meningoradiculitis (Elsberg syndrome) who presented with herpes zoster in the left S2 dermatome area, urinary retention, and constipation suddenly showed massive hematochezia and hemorrhagic shock because of a rectal ulcer.
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Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH.

TL;DR: An identical novel rearrangement mutation of DHH is identified in two consanguineous families with MN, confirming mutations in DHH cause MN with 46XY GD, and further support that DHH has important roles in perineural formation and male gonadal differentiation.