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Author

Yasuhiro Takeshima

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2 papers indexed here

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Case report Open access Oct 2026

Intrafamilial phenotypic variability in B4GALNT1-related disorders: A sibling case report.

INTRODUCTION Pathogenic variants in β-1,4-N-acetylgalactosaminyltransferase 1 (B4GALNT1) are primarily associated with hereditary spastic paraplegia type 26 (SPG26). In addition, these variants have been implicated in Charcot-Marie-Tooth disease, suggesting a broad phenotypic continuum involving both the central and pe...

Saeka Yoshitake, H. Shimomura, Miki Matsui et al. · 0 citations
Review Aug 2026

National survey of patients with neuromuscular disease and COVID-19 in Japan.

BACKGROUND/PURPOSE Coronavirus disease 2019 (COVID-19) poses particular risks for patients with neuromuscular disorders, but its severity and outcomes in this population remain unclear. We investigated the clinical features, transmission routes, treatments, and prognostic factors of COVID-19 in patients with neuromuscu...

Takatoshi Sato, Keiko Ishigaki, Yuki Kihara et al. · 0 citations

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