Author

João Paulo Borges de Melo

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Open access Oct 2026

Double trouble: clinical phenotype of a young patient with myasthenia gravis and positivity for both AChR and MuSK antibodies

Case Presentation: A 26-year-old woman presented at age 15 with binocular diplopia, fluctuating bilateral ptosis, and dysphonia. Over the following 3-4 months, she developed progressive dysphagia with intermittent nasal regurgitation of liquids and weight loss. At age 20, she experienced a major event of pulmonary aspi...

Gustavo Freitas Alves de Arruda, Andréia Lira de Oliveira, V. F. Cury et al. · ANPAbstract_CBN26 · 0 citations

Review Open access Oct 2026

Superior cerebellar peduncle hyperintensity: a highly specific imaging marker for SCA27B

Background: Spinocerebellar ataxia type 27B (SCA27B), resulting from a GAA-repeat expansion in the FGF14 gene, has recently been identified as a prevalent and likely underdiagnosed cause of late-onset cerebellar ataxia. Clinically, the disorder is characterized by a progressive cerebellar syndrome that may initially ma...

João Paulo Borges de Melo, Thiago Ganho, Walderico João Machado et al. · ANPAbstract_CBN26 · 0 citations