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Author

P. Nóbrega

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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
Review Open access Jul 2026

Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism.

The novel DNAJC6 p.Cys325* variant is associated with severe, early-onset parkinsonism and developmental regression and should be considered in children and adolescents presenting with parkinsonism plus neurodevelopmental decline, particularly when levodopa benefit is modest, and dose-related adverse motor crises occur.

André Luiz Santos Pessoa, T. Guimarães, Diego de Castro Dos Santos et al. · 0 citations