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Author

Victor Rebelo Procaci

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Open access Jul 2026

Unraveling SPG46: Clinical, Genetic, and Neuroimaging Features.

The recurrent GBA2 c.1365G>C;p.(Trp455Cys) variant suggests a potential founder effect and expands the phenotypic spectrum of SPG46 in Brazil.

Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, Julian Letícia de Freitas et al. · 0 citations
Open access Aug 2026

Clinical and Genetic Spectrum of ATP1A3-Related Disorders

The results highlight the need for a unified diagnostic framework for ATP1A3-related disorders and demonstrate the feasibility and scientific value of coordinated rare disease research in resource-limited settings.

Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes et al. · 0 citations