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T. Matsukawa

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2 papers indexed here

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Open access Aug 2026

Clinical heterogeneity of dysphagia in spinocerebellar ataxia type 6 and its relationship with CAG repeat length

Spinocerebellar ataxia type 6 (SCA6) is classically regarded as a relatively pure cerebellar ataxia, and dysphagia has therefore been considered uncommon. Consequently, the clinical characteristics of dysphagia in SCA6 remain poorly understood. We retrospectively analyzed 70 patients with genetically confirmed SCA6...

Yumiko Nakamura, T. Matsukawa, A. Kaneoka et al. · 0 citations
Open access Jul 2026

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

The importance of comprehensive genome analysis including VWA1 in patients with distal neuropathies, particularly when early‐onset foot deformities are present, is highlighted, and the potential pathogenic relevance of missense variants within the second FN3 domain is highlighted.

Toshiyuki Kakumoto, Kenta Orimo, T. Matsukawa et al. · 0 citations

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