Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Alessia Mauri"'
Autor:
Alessia Mauri, Clarissa Berardo, Davide Biganzoli, Andrea Meta, Sara Benedetti, Federica Rey, Letizia Messa, Gian Vincenzo Zuccotti, Stephana Carelli, Luisella Alberti, Cristina Cereda
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101074- (2024)
Each year thousands of babies are born with rare genetic disorders not identified by current NBS panels, due to programs which are not yet optimal. Next-generation sequencing technologies have the potential to overcome many NBS drawbacks and provide
Externí odkaz:
https://doaj.org/article/131aec9bb5ee4203b3458d7620276936
Autor:
Giada Moresco, Maria Francesca Bedeschi, Marco Venturin, Roberta Villa, Jole Costanza, Alessia Mauri, Carlo Santaniello, Odoardo Picciolini, Laura Messina, Fabio Triulzi, Monica Rosa Miozzo, Ornella Rondinone, Laura Fontana
Publikováno v:
Genes, Vol 15, Iss 8, p 971 (2024)
Moebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/va
Externí odkaz:
https://doaj.org/article/7fc0cd56908e4175957b03f0a403f7cb
Autor:
Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Menkes disease is an X‐linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozy
Externí odkaz:
https://doaj.org/article/d1d5fd7869b040fb9901fef9c3fa9711
Autor:
Federica Rey, Clarissa Berardo, Erika Maghraby, Alessia Mauri, Letizia Messa, Letizia Esposito, Giovanna Casili, Sara Ottolenghi, Eleonora Bonaventura, Salvatore Cuzzocrea, Gianvincenzo Zuccotti, Davide Tonduti, Emanuela Esposito, Irene Paterniti, Cristina Cereda, Stephana Carelli
Publikováno v:
Antioxidants, Vol 12, Iss 4, p 965 (2023)
Oxygen is a central molecule for numerous metabolic and cytophysiological processes, and, indeed, its imbalance can lead to numerous pathological consequences. In the human body, the brain is an aerobic organ and for this reason, it is very sensitive
Externí odkaz:
https://doaj.org/article/718eb2e7fe51495894bbee6e71757ddc
Autor:
Clarissa Berardo, Valeria Calcaterra, Alessia Mauri, Stephana Carelli, Letizia Messa, Francesca Destro, Federica Rey, Erika Cordaro, Gloria Pelizzo, Gianvincenzo Zuccotti, Cristina Cereda
Publikováno v:
Cells, Vol 12, Iss 8, p 1105 (2023)
The prevalence of pediatric obesity is rising rapidly worldwide, and “omic” approaches are helpful in investigating the molecular pathophysiology of obesity. This work aims to identify transcriptional differences in the subcutaneous adipose tissu
Externí odkaz:
https://doaj.org/article/f070f3ad43e142f4bed01b0934e752e7
Autor:
Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina Cereda
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13560 (2022)
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dyst
Externí odkaz:
https://doaj.org/article/ed81d56e8fa94c219634a698252dec89
Autor:
Giada Moresco, Ornella Rondinone, Alessia Mauri, Jole Costanza, Carlo Santaniello, Patrizia Colapietro, Emanuele Micaglio, Giovanni Marfia, Chiara Pesenti, Federico Grilli, Berardo Rinaldi, Elisabetta Prada, Giulietta Scuvera, Roberta Villa, Maria Francesca Bedeschi, Monica Rosa Miozzo, Donatella Milani, Laura Fontana
Publikováno v:
Genes & Genomics. 45:637-655
Whole-Exome Sequencing (WES) is a valuable tool for the molecular diagnosis of patients with a suspected genetic condition. In complex and heterogeneous diseases, the interpretation of WES variants is more challenging given the absence of diagnostic
Autor:
Cereda, Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 21; Pages: 13560
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dyst
Autor:
Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina Cereda
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly and movement disorders (e.g. spasticity and dyston
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96d31c503ad796d6768346062facccdc
https://doi.org/10.1101/2022.09.26.509448
https://doi.org/10.1101/2022.09.26.509448
Autor:
Moresco, Giada, Rondinone, Ornella, Costanza, Jole, Santaniello, Carlo, Fontana, Laura, Alessia Mauri, Venturin, Marco, Picciolini, Odoardo, Villa, Roberta, Miozzo, Monica, Bedeschi, Maria Francesca
Publikováno v:
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0bb8da9cee66711c3151d43a1130a9ab
https://hdl.handle.net/2434/964196
https://hdl.handle.net/2434/964196