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Journal of Inherited Metabolic Disease|October 14, 2025
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and MonitoringFlorencia Epifani, Lluc Cabus, Gregorio A Nolasco, et al.
Annals of Clinical and Translational Neurology|September 26, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy MimicsGregorio A Nolasco, Mònica Roldán, Yalda Jamshidi, et al.
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