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American Journal of Medical Genetics. Part A|May 9, 2025
Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 GeneRamya Treitel, Julie McLaughlin, Marta FrigeniBiochimica Et Biophysica Acta|February 2, 2016
Carnitine transport and fatty acid oxidationNicola Longo, Marta Frigeni, Marzia PasqualiBiochimica Et Biophysica Acta|March 21, 2016
Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporterMarta Frigeni, Francesco Iacobazzi, Xue Yin, et al.American Journal of Medical Genetics. Part A|February 14, 2022
Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal periodAbigail Kacpura, Marta Frigeni, Kathryn Gunther, et al.Molecular Genetics and Metabolism|October 17, 2024
Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8Nicola Longo, Laura Alane Voss, Marta Frigeni, et al.JAMA Facial Plastic Surgery|July 18, 2014
Surface electromyographic mapping of the orbicularis oculi muscle for real-time blink detectionAlice Frigerio, Paolo Cavallari, Marta Frigeni, et al.American Journal of Medical Genetics. Part A|March 26, 2026
Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature ReviewOwen Yu, Christine Moore, Kevin Carratu, et al.Human Mutation|August 26, 2017
Functional and molecular studies in primary carnitine deficiencyMarta Frigeni, Bijina Balakrishnan, Xue Yin, et al.American Journal of Medical Genetics. Part A|September 2, 2021
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case reportMarta Frigeni, David F Rodriguez-Buritica, Heather Saavedra, et al.International Journal of Molecular Sciences|October 14, 2022
MPSI Manifestations and Treatment Outcome: Skeletal FocusGiada De Ponti, Samantha Donsante, Marta Frigeni, et al.Pageof 2