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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.Brain Sciences|May 24, 2020
Disentangling Restrictive and Repetitive Behaviors and Social Impairments in Children and Adolescents with Gilles de la Tourette Syndrome and Autism Spectrum DisorderMariangela Gulisano, Rita Barone, Salvatore Alaimo, 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.Pageof 2