MAURI, ALESSIA
MAURI, ALESSIA
Dipartimento di Scienze Biomediche e Cliniche
Role of epigenetics and alterations in RNA metabolism in leukodystrophies
2024 F. Rey, L. Esposito, E. Maghraby, A. Mauri, C. Berardo, E. Bonaventura, D. Tonduti, S. Carelli, C. Cereda
Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome
2024 S. Olivotto, A. Freddi, R. Previtali, A. Mauri, C. Cereda, R. De Amicis, S. Bertoli, C. Doneda, P. Veggiotti
Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing
2024 G. Moresco, M.F. Bedeschi, M. Venturin, R. Villa, J. Costanza, A. Mauri, C. Santaniello, O. Picciolini, L. Messina, F. Triulzi, M.R. Miozzo, O. Rondinone, L. Fontana
Further insights into Allan-Herndon-Dudley syndrome: a novel SLC16A2 splice site variant
2024 L. Esposito, A. Mauri, F. Rey, E. Maghraby, B. Castellotti, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots
2024 A. Mauri, C. Berardo, D. Biganzoli, A. Meta, S. Benedetti, F. Rey, L. Messa, G.V. Zuccotti, S. Carelli, L. Alberti, C. Cereda
Novel frontiers in aicardi-goutières syndrome: association between a rnu7-1 variant and histone dysfunctions
2024 E. Maghraby, F. Rey, L. Esposito, M. Leone, A. Mauri, R. Allevi, S. Mazzucchelli, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda
Menkes disease complicated by concurrent ACY1 deficiency: A case report
2023 A. Mauri, L.A. Saielli, E. Alfei, M. Iascone, D. Marchetti, E. Cattaneo, A. Di Lauro, L. Antonelli, L. Alberti, E. Bonaventura, P. Veggiotti, L. Spaccini, C. Cereda
Redox Imbalance in Neurological Disorders in Adults and Children
2023 F. Rey, C. Berardo, E. Maghraby, A. Mauri, L. Messa, L. Esposito, G. Casili, S. Ottolenghi, E. Bonaventura, S. Cuzzocrea, G. Zuccotti, D. Tonduti, E. Esposito, I. Paterniti, C. Cereda, S. Carelli
Subcutaneous Adipose Tissue Transcriptome Highlights Specific Expression Profiles in Severe Pediatric Obesity: A Pilot Study
2023 C. Berardo, V. Calcaterra, A. Mauri, S. Carelli, L. Messa, F. Destro, F. Rey, E. Cordaro, G. Pelizzo, G. Zuccotti, C. Cereda
Unraveling the genetic causes of Moebius syndrome
2022 G. Moresco, O. Rondinone, J. Costanza, C. Santaniello, L. Fontana, A. Mauri, M. Venturin, O. Picciolini, R. Villa, M. Miozzo, M.F. Bedeschi
Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis
2022 A. Mauri, A. Duse, G. Palm, R. Previtali, S. Bova, S. Olivotto, S. Benedetti, F. Coscia, P. Veggiotti, C. Cereda
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
2022 G. Moresco, O. Rondinone, A. Mauri, J. Costanza, C. Santaniello, P. Colapietro, E. Micaglio, G. Marfia, C. Pesenti, F. Grilli, B. Rinaldi, E. Prada, G. Scuvera, R. Villa, M.F. Bedeschi, M.R. Miozzo, D. Milani, L. Fontana