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.· medRxiv· 0 citations
Genetic testing demonstrating an expanded HTT CAG repeat is the definitive diagnostic test and should be interpreted with genetic counseling and attention to allele categories, and therapeutic development.
A. Cervantes-Arriaga, Ashley Xanat Beltrán-Torres, Diego Romero-García et al.· Revista de investigacion cli...· 0 citations
This review summarizes emerging therapeutic approaches, including monoclonal antibodies targeting protein aggregation, immune-modulating and metabolic interventions, antisense oligonucleotides, gene replacement and genome-editing strategies, stem cell-based therapies, and neurosurgical delivery platforms and neuromodul...
A. Domínguez-García, J. C. Delgado-Uriarte, A. Cervantes-Arriaga· Revista de investigacion cli...· 0 citations
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