| Carnitine transport and fatty acid oxidation N Longo, M Frigeni, M Pasquali Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1863 (10), 2422-2435, 2016 | 844 | 2016 |
| Functional and molecular studies in primary carnitine deficiency M Frigeni, B Balakrishnan, X Yin, FRO Calderon, R Mao, M Pasquali, ... Human Mutation 38 (12), 1684-1699, 2017 | 72 | 2017 |
| Surface electromyographic mapping of the orbicularis oculi muscle for real-time blink detection A Frigerio, P Cavallari, M Frigeni, A Pedrocchi, A Sarasola, S Ferrante JAMA facial plastic surgery, 2014 | 34 | 2014 |
| Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter M Frigeni, F Iacobazzi, X Yin, N Longo Biochimica et Biophysica Acta (BBA)-General Subjects 1860 (6), 1334-1342, 2016 | 8 | 2016 |
| MPSI manifestations and treatment outcome: skeletal focus G De Ponti, S Donsante, M Frigeni, A Pievani, A Corsi, ME Bernardo, ... International Journal of Molecular Sciences 23 (19), 11168, 2022 | 7 | 2022 |
| Clinical and biochemical outcomes in cobalamin C deficiency with use of high‐dose hydroxocobalamin in the early neonatal period A Kacpura, M Frigeni, K Gunther, L Farach American Journal of Medical Genetics Part A 188 (6), 1831-1835, 2022 | 6 | 2022 |
| The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: a case report M Frigeni, DF Rodriguez‐Buritica, H Saavedra, KA Gunther, PR Hillman, ... American Journal of Medical Genetics Part A 185 (11), 3510-3516, 2021 | 5 | 2021 |
| Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts K Gorshkov, AQ Wang, W Sun, E Fisher, M Frigeni, M Singleton, N Thorne, ... Pharmacology research & perspectives 7 (6), e00525, 2019 | 5 | 2019 |
| Cellular, molecular, and metabolic aspects of developing lungs in congenital diaphragmatic hernia S Perveen, M Frigeni, H Benveniste, D Kurepa Frontiers in Pediatrics 10, 932463, 2022 | 2 | 2022 |
| Design of a contralaterally triggered neuroprosthesis for the paralyzed eyelid: surface EMG mapping of the orbicularis oculi muscle for real-time eye blink detection A Sarasola Sanz, M Frigeni, P Cavallari, A Frigerio, ALG Pedrocchi, ... " Bridging Mind and Body” Proceedings of the 18th IFESS Conference, 49-52, 2013 | 2 | 2013 |
| Tablet-based Rey–Osterrieth Complex Figure copy task: a novel application to assess spatial, procedural, and kinematic aspects of drawing in children M Frigeni, MA Petilli, S Gobbo, V Di Giusto, CF Zorzi, M Rabuffetti, ... Scientific Reports 14 (1), 16787, 2024 | | 2024 |
| PRIMARY CARNITINE DEFICIENCY: THE EFFECT OF 4-PHENYLBUTYRIC ACID ON NATURAL MUTATIONS M Frigeni, F Ingoglia, B Balakrishnan, M Pasquali, N Longo Molecular Genetics and Metabolism 138 (3), 107413, 2023 | | 2023 |
| NOVEL VARIANTS IDENTIFIED IN TWO SIBLINGS WITH MUCOPOLYSACCHARIDOSIS TYPE IIIC: THE ROLE OF FUNCTIONAL STUDIES IN CONFIRMING PATHOGENICITY C Moore, M Frigeni Molecular Genetics and Metabolism 138 (3), 107460, 2023 | | 2023 |
| Clinical and biochemical outcome with parenteral hydroxocobalamin mega-dosing in cobalamin C deficiency A Kacpura, K Gunther, M Frigeni, L Farach Molecular Genetics and Metabolism 132, S144-S145, 2021 | | 2021 |
| FUNCTIONAL STUDIES REMAIN THE BEST STRATEGY TO CONFIRM THE DIAGNOSIS OF PRIMARY CARNITINE DEFICIENCY M Frigeni, X Yin, B Balakrishnan, M Pasquali, N Longo MOLECULAR GENETICS AND METABOLISM 117 (3), 257-257, 2016 | | 2016 |
| Domain-swapping with OCTN2 shows tolerance to substitutions in the dill ergothioneine transporter M Frigeni, F Iacobazzi, X Yin, N Longo MOLECULAR GENETICS AND METABOLISM 114 (3), 337-338, 2015 | | 2015 |
| Functional and molecular evaluation of patients with primary carnitine deficiency M Frigeni, X Yin, M Pasquali, N Longo Journal of Inherited Metabolic Disease 38 (1), S199, 2015 | | 2015 |
| Multiple mutations in the SLC22A5 gene in patients with OCTN2 carnitine transporter deficiency identified by newborn screening N Longo, C Amat di San Filippo, X Yin, M Frigeni, R Mao, M Pasquali Journal of Inherited Metabolic Disease 37 (1), S55, 2014 | | 2014 |
| Response to Therapy of Creatine Transporter Deficiency Caused by a Hypomorphic Variant in Slc6a8 N Longo, LA Voss, M Frigeni, B Balakrishnan, M Pasquali Available at SSRN 4926982, 0 | | |
