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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

M. Cesarini

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Sep 2026

FGF14 (GAA) repeat expansion-associated Ataxia (SCA27B): Expanding the clinical and diagnostic spectrum from the first genetically confirmed case in Argentina.

Spinocerebellar ataxia 27B (SCA27B), caused by an FGF14 GAA repeat expansion, is an emerging cause of late-onset ataxia. We report the first genetically confirmed Argentinean case, initially misdiagnosed as alcoholic cerebellar degeneration. This case highlights diagnostic challenges, phenotypic heterogeneity, and the...

E. Gatto, N. Rojas, M. Cesarini et al. · 0 citations
Open access Sep 2026

Genomic Landscape of Early-Onset and Familial Latin American Parkinson’s Patients

By expanding the reported spectrum of disease-associated variants in a Latin American population, this work identified previously unreported or underrepresented variants that would likely be missed by array-based or targeted screening approaches and contribute to the characterization of EOPD and familial PD in Latin Am...

E. Waldo, H. M. Chaparro-Solano, M. Isayan et al. · 0 citations
Aug 2026

GCH1 genetic variation as a prognostic factor in Parkinson disease across populations

GCH1 pathogenic variants were associated with a clinically distinct phenotype characterized by earlier disease onset and slower progression of motor complications, suggesting that GCH1 genetic variants may serve as genetic biomarkers for patient stratification and prognosis in PD.

J. Shin, M. T. Periñán, J. W. Jang et al. · 0 citations

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