Feo F.; Falliano S.; Caciotti A.; Rinaldi M.; Caroli A.; Giunti L.; Calamai M.; Procopio E.; Guerrini R.; Morrone A.; Tonin R. (2025). Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene. STEM CELL RESEARCH, vol. 87, pp. 0-0, ISSN:1876-7753 DOI   Accesso ONLINE all'editore

  Damiano, Roberta; Della Bona, Maria; Procopio, Elena; Guerrini, Renzo; Bettiol, Alessandra; la Marca, Giancarlo (2025). Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, pp. 0-0, ISSN:1434-6621 DOI  

  Damiano, Roberta; Della Bona, Maria; Procopio, Elena; Gasperini, Serena; Guerrini, Renzo; Bettiol, Alessandra; la Marca, Giancarlo (2025). Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry. CLINICA CHIMICA ACTA, vol. 567, pp. 0-0, ISSN:0009-8981 DOI  

  Feo F.; Tramacere L.; Ramat S.; Govoni A.; Caremani L.; Grigioni G.; Mei D.; Falliano S.; Marin F.; Ferri L.; Paoli A.; Rinaldi M.; la Marca G.; Ombrone D.; Procopio E.; Guerrini R.; Morrone A.; Caciotti A. (2025). High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions. EUROPEAN JOURNAL OF NEUROLOGY, vol. 32, pp. 0-0, ISSN:1468-1331 DOI   Accesso ONLINE all'editore

  Barbato, Alessandro; Gori, Giulia; Sacchini, Michele; Pochiero, Francesca; Bargiacchi, Sara; Traficante, Giovanna; Palazzo, Viviana; Tiberi, Lucia; Bianchini, Claudia; Mei, Davide; Parrini, Elena; Pisano, Tiziana; Procopio, Elena; Guerrini, Renzo; Peron, Angela; Stagi, Stefano (2024). Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature. ENDOCRINE CONNECTIONS, vol. 13, pp. 1-9, ISSN:2049-3614 DOI  

  Fino, Edoardo; Barbato, Alessandro; Scaturro, Giusi M.; Procopio, Elena; Balestrini, Simona (2023). DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings. MOLECULAR GENETICS AND METABOLISM REPORTS, vol. 37, pp. 0-0, ISSN:2214-4269 DOI  

  Claudia Nesti , Chiara Ticci , Anna Rubegni , Stefano Doccini , Giusi Scaturro , Annalisa Vetro , Renzo Guerrini , Filippo M Santorelli , Elena Procopio (2023). Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. JOURNAL OF NEUROLOGY, pp. 0-0, ISSN:0340-5354 DOI  

  Lastrucci, Elisa; Daniotti, Marta; Procopio, Elena; Scaturro, Giusi; Tubili, Flavia; Martin, Rosanna; la Marca, Giancarlo (2023). Communicating a Positive Result at Newborn Screening and Parental Distress. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, vol. 9, pp. 0-0, ISSN:2409-515X DOI  

  Fazi, C; Lodi, L; Magi, L; Canessa, C; Giovannini, M; Pelosi, C; Pochiero, F; Procopio, E; Donati, M A; Azzari, C; Ricci, S (2022). Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency. FRONTIERS IN PEDIATRICS, vol. 10, pp. 0-0, ISSN:2296-2360 DOI  

  Pagano, M; Fumagalli, C; Girolami, F; Passantino, S; Gozzini, A; Brambilla, A; Spinelli, V; Morrone, A; Procopio, E; Pochiero, F; Donati, M A; Olivotto, I; Favilli, S (2022). Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre. INTERNATIONAL JOURNAL OF CARDIOLOGY, pp. 0-0, ISSN:1874-1754 DOI  

  Peluso, Francesca; Palazzo, Viviana; Indolfi, Giuseppe; Mari, Francesco; Pasqualetti, Roberta; Procopio, Elena; Nesti, Claudia; Guerrini, Renzo; Santorelli, Filippo; Giglio, Sabrina (2021). Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report. BMC MEDICAL GENOMICS, vol. 4, pp. 0-0, ISSN:1755-8794 DOI  

  Della Vecchia, Stefania; Tessa, Alessandra; Dosi, Claudia; Baldacci, Jacopo; Pasquariello, Rosa; Antenora, Antonella; Astrea, Guja; Bassi, Maria Teresa; Battini, Roberta; Casali, Carlo; Cioffi, Ettore; Conti, Greta; De Michele, Giovanna; Ferrari, Anna Rita; Filla, Alessandro; Fiorillo, Chiara; Fusco, Carlo; Gallone, Salvatore; Germiniasi, Chiara; Guerrini, Renzo; Haggiag, Shalom; Lopergolo, Diego; Martinuzzi, Andrea; Melani, Federico; Mignarri, Andrea; Panzeri, Elena; Pini, Antonella; Pinto, Anna Maria; Pochiero, Francesca; Primiano, Guido; Procopio, Elena; Renieri, Alessandra; Romaniello, Romina; Sancricca, Cristina; Servidei, Serenella; Spagnoli, Carlotta; Ticci, Chiara; Rubegni, Anna; Santorelli, Filippo Maria (2021). Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. JOURNAL OF NEUROLOGY, vol. 269, pp. 437-450, ISSN:0340-5354 DOI  

  Caciotti, Anna; Cellai, Lucrezia; Tonin, Rodolfo; Mei, Davide; Procopio, Elena; Di Rocco, Maja; Andaloro, Antonio; Antuzzi, Daniela; Rampazzo, Angelica; Rigoldi, Miriam; Forni, Giulia; la Marca, Giancarlo; Guerrini, Renzo; Morrone, Amelia (2021). Morquio B disease: From pathophysiology towards diagnosis. MOLECULAR GENETICS AND METABOLISM, vol. 132, pp. 180-188, ISSN:1096-7192 DOI  

  Tolomeo, Deborah; Orsucci, Daniele; Nesti, Claudia; Baldacci, Jacopo; Battini, Roberta; Bruno, Claudio; Bruno, Giorgia; Cassandrini, Denise; Doccini, Stefano; Donati, M. Alice; Ferrari, Annarita; Fiori, Simona; Fiorillo, Chiara; Guerrini, Renzo; Mari, Francesco; Montomoli, Martino; Pochiero, Francesca; Procopio, Elena; Ruggiero, Lucia; Sampaolo, Simone; Sicca, Federico; Ticci, Chiara; Rubegni, Anna; Santorelli, Filippo M. (2021). The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study. INTERNATIONAL JOURNAL OF CLINICAL MEDICINE, vol. 10, pp. 0-0, ISSN:2158-284X DOI  

  Brambilla A.; Olivotto I.; Favilli S.; Spaziani G.; Passantino S.; Procopio E.; Morrone A.; Donati M.A. (2020). Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders. ORPHANET JOURNAL OF RARE DISEASES, vol. 15, pp. 0-0, ISSN:1750-1172 DOI  

  Caciotti A.; Procopio E.; Pochiero F.; Falliano S.; Indolfi G.; Donati M.A.; Ferri L.; Guerrini R.; Morrone A. (2020). SARS-CoV-2 infection in a patient with propionic acidemia. ORPHANET JOURNAL OF RARE DISEASES, vol. 15, pp. 306-311, ISSN:1750-1172 DOI  

  Caciotti A.; Melani F.; Tonin R.; Cellai L.; Catarzi S.; Procopio E.; Chilleri C.; Mavridou I.; Michelakakis H.; Fioravanti A.; d'Azzo A.; Guerrini R.; Morrone A. (2020). Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview. MOLECULAR GENETICS AND METABOLISM, vol. 129, pp. 47-58, ISSN:1096-7192 DOI   Accesso ONLINE all'editore

  Vetro A, Pisano T, Chiaro S, Procopio E, Guerra A, Parrini E, Mei D, Virdò S, Mangone G, Azzari C, Guerrini R. (2020). Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations. NEUROLOGY. GENETICS, vol. 6, pp. 0-0, ISSN:2376-7839 DOI  

  Brambilla A.; Favilli S.; Olivotto I.; Calabri G.B.; Porcedda G.; De Simone L.; Procopio E.; Pasquini E.; Donati M.A. (2019). Clinical profile and outcome of cardiac involvement in MELAS syndrome. INTERNATIONAL JOURNAL OF CARDIOLOGY, vol. 276, pp. 14-19, ISSN:0167-5273 DOI   Accesso ONLINE all'editore