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Author

P. Tomaselli

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2 papers indexed here

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Open access Sep 2026

Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B: A Multisite MRI-Based Study.

BACKGROUND SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear. OBJECTIVE The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging. METHODS In thi...

N. B. Santos, C. C. Lobo, T. Rezende et al. · 0 citations
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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