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D. F. dos Santos

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Open access Jul 2026

VRK1 ‐Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle Involvement

Variants in the VRK1 gene, originally described in association with pontocerebellar hypoplasia, are now known to produce a broad clinical spectrum, including amyotrophic lateral sclerosis, dHMN, and less frequently, spastic paraplegia.

Manoella Guerra de Albuquerque Bueno, D. F. dos Santos, A. Rossor et al. · 1 citation

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