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Birth Defects Research|January 24, 2022
COG6-CDG: Novel variants and novel malformationLara Cirnigliaro, Paolo Bianchi, Luisa Sturiale, et al.
Orphanet Journal of Rare Diseases|February 3, 2024
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysisLara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, et al.
Scientific Reports|July 8, 2025
MAN2A2-related glycosylation defects in autism and cognitive delaySimone Treccarichi, Mirella Vinci, Lara Cirnigliaro, et al.
Journal of Clinical Medicine|February 24, 2024
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror MovementsAdriana Prato, Lara Cirnigliaro, Federica Maugeri, et al.
Scientific Reports|May 7, 2025
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDGRenata Mangione, Lara Cirnigliaro, Miriam Wissam Saab, et al.
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