Efficient wastewater sample filtration improves the detection of SARS-CoV-2 variants: An extensive analysis based on sequencing parameters
Robotto, Angelo, Olivero, Carlotta, Pozzi, Elisa, Strumia, Claudia, Crasà, Camilla, Fedele, Cristina, Derosa, Maddalena, Di Martino, Massimo, Latino, Stefania, Scorza, Giada, Civra, Andrea, Lembo, David, Quaglino, Paola, Brizio, Enrico, Polato, Denis
Published in PloS one (24.05.2024)
Published in PloS one (24.05.2024)
Get full text
Journal Article
Adverse Perinatal Outcome in Subsequent Pregnancy after Stillbirth by Placental Vascular Disorders
Monari, Francesca, Pedrielli, Giulia, Vergani, Patrizia, Pozzi, Elisa, Mecacci, Federico, Serena, Caterina, Neri, Isabella, Facchinetti, Fabio
Published in PloS one (26.05.2016)
Published in PloS one (26.05.2016)
Get full text
Journal Article
MicroRNA dysregulation in ataxia telangiectasia
Cirillo, Emilia, Tarallo, Antonietta, Toriello, Elisabetta, Carissimo, Annamaria, Giardino, Giuliana, De Rosa, Antonio, Damiano, Carla, Soresina, Annarosa, Badolato, Raffaele, Dellepiane, Rosa Maria, Baselli, Lucia A, Carrabba, Maria, Fabio, Giovanna, Bertolini, Patrizia, Montin, Davide, Conti, Francesca, Romano, Roberta, Pozzi, Elisa, Ferrero, Giulio, Roncarati, Roberta, Ferracin, Manuela, Brusco, Alfredo, Parenti, Giancarlo, Pignata, Claudio
Published in Frontiers in immunology (19.08.2024)
Published in Frontiers in immunology (19.08.2024)
Get full text
Journal Article
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
Mancini, Cecilia, Hoxha, Eriola, Iommarini, Luisa, Brussino, Alessandro, Richter, Uwe, Montarolo, Francesca, Cagnoli, Claudia, Parolisi, Roberta, Gondor Morosini, Diana Iulia, Nicolò, Valentina, Maltecca, Francesca, Muratori, Luisa, Ronchi, Giulia, Geuna, Stefano, Arnaboldi, Francesca, Donetti, Elena, Giorgio, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Pozzi, Elisa, Ferrero, Marta, Riberi, Evelise, Casari, Giorgio, Altruda, Fiorella, Turco, Emilia, Gasparre, Giuseppe, Battersby, Brendan J., Porcelli, Anna Maria, Ferrero, Enza, Brusco, Alfredo, Tempia, Filippo
Published in Neurobiology of disease (01.04.2019)
Published in Neurobiology of disease (01.04.2019)
Get full text
Journal Article
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia
Squadrone, Stefania, Brizio, Paola, Mancini, Cecilia, Pozzi, Elisa, Cavalieri, Simona, Abete, Maria Cesarina, Brusco, Alfredo
Published in Neurobiology of disease (01.09.2015)
Published in Neurobiology of disease (01.09.2015)
Get full text
Journal Article
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study
Rubino, Elisa, Boschi, Silvia, Giorgio, Elisa, Pozzi, Elisa, Marcinnò, Andrea, Gallo, Erica, Roveta, Fausto, Grassini, Alberto, Brusco, Alfredo, Rainero, Innocenzo
Published in Neurobiology of pain (01.01.2022)
Published in Neurobiology of pain (01.01.2022)
Get full text
Journal Article
Identifying the causes of stillbirth: a comparison of four classification systems
Vergani, Patrizia, MD, Cozzolino, Sabrina, MD, Pozzi, Elisa, MD, Cuttin, Maria Serena, MD, Greco, Massimiliano, MD, Ornaghi, Sara, MD, Lucchini, Valeria, MD
Published in American journal of obstetrics and gynecology (01.09.2008)
Published in American journal of obstetrics and gynecology (01.09.2008)
Get full text
Journal Article
Conference Proceeding
Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome
Pozzi, Elisa, MD, Vergani, Patrizia, MD, Dalprà, Leda, PhD, Combi, Romina, PhD, Silvestri, Daniela, PhD, Crosti, Francesca, PhD, Dell′Orto, Mariagrazia, MD, Valsecchi, Maria Grazia, PhD
Published in American journal of obstetrics and gynecology (01.06.2009)
Published in American journal of obstetrics and gynecology (01.06.2009)
Get full text
Journal Article
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Ferrero, Enza, Di Gregorio, Eleonora, Ferrero, Marta, Ortolan, Erika, Moon, Young-Ah, Di Campli, Antonella, Pavinato, Lisa, Mancini, Cecilia, Tripathy, Debasmita, Manes, Marta, Hoxha, Eriola, Costanzi, Chiara, Pozzi, Elisa, Rossi Sebastiano, Matteo, Mitro, Nico, Tempia, Filippo, Caruso, Donatella, Borroni, Barbara, Basso, Manuela, Sallese, Michele, Brusco, Alfredo
Published in Human genetics (01.08.2023)
Published in Human genetics (01.08.2023)
Get full text
Journal Article
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia
Costantini, Antonio, Laureti, Tiziana, Pala, Maria Immacolata, Colangeli, Marco, Cavalieri, Simona, Pozzi, Elisa, Brusco, Alfredo, Salvarani, Sandro, Serrati, Carlo, Fancellu, Roberto
Published in Journal of neurology (01.11.2016)
Published in Journal of neurology (01.11.2016)
Get full text
Journal Article
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
Giorgio, Elisa, Vaula, Giovanna, Benna, Paolo, Lo Buono, Nicola, Eandi, Chiara Maria, Dino, Daniele, Mancini, Cecilia, Cavalieri, Simona, Di Gregorio, Eleonora, Pozzi, Elisa, Ferrero, Marta, Giordana, Maria Teresa, Depienne, Christel, Brusco, Alfredo
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2017)
Get full text
Journal Article
A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy
Giorgio, Elisa, Pesce, Emanuela, Pozzi, Elisa, Sondo, Elvira, Ferrero, Marta, Morerio, Cristina, Borrelli, Giusy, Della Sala, Edoardo, Lorenzati, Martina, Cortelli, Pietro, Buffo, Annalisa, Pedemonte, Nicoletta, Brusco, Alfredo
Published in Human mutation (01.01.2021)
Published in Human mutation (01.01.2021)
Get full text
Journal Article
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients
Pozzi, Elisa, Giorgio, Elisa, Mancini, Cecilia, Lo Buono, Nicola, Augeri, Stefania, Ferrero, Marta, Di Gregorio, Eleonora, Riberi, Evelise, Vinciguerra, Maria, Nanetti, Lorenzo, Bianchi, Federico Tommaso, Sassi, Maria Paola, Costanzo, Vincenzo, Mariotti, Caterina, Funaro, Ada, Cavalieri, Simona, Brusco, Alfredo
Published in Scientific reports (19.11.2020)
Published in Scientific reports (19.11.2020)
Get full text
Journal Article
Stillbirths in singletons, dichorionic and monochorionic twins: a comparison of risks and causes
Russo, Francesca M, Pozzi, Elisa, Pelizzoni, Francesca, Todyrenchuk, Lyudmyla, Bernasconi, Davide P, Cozzolino, Sabrina, Vergani, Patrizia
Published in European journal of obstetrics & gynecology and reproductive biology (01.09.2013)
Published in European journal of obstetrics & gynecology and reproductive biology (01.09.2013)
Get full text
Journal Article
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis
Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, Brusco, Alfredo
Published in The Journal of molecular diagnostics : JMD (01.05.2018)
Published in The Journal of molecular diagnostics : JMD (01.05.2018)
Get full text
Journal Article
Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival
Russo, Francesca M., Pozzi, Elisa, Verderio, Maria, Bernasconi, Davide P., Giardini, Valentina, Colombo, Carla, Maitz, Silvia, Vergani, Patrizia
Published in American journal of medical genetics. Part A (01.02.2016)
Published in American journal of medical genetics. Part A (01.02.2016)
Get full text
Journal Article
Spinocerebellar Ataxia Tethering PCR
Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, Brusco, Alfredo
Published in The Journal of molecular diagnostics : JMD (01.05.2018)
Published in The Journal of molecular diagnostics : JMD (01.05.2018)
Get full text
Journal Article
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
Giorgio, Elisa, Brussino, Alessandro, Biamino, Elisa, Belligni, Elga Fabia, Bruselles, Alessandro, Ciolfi, Andrea, Caputo, Viviana, Pizzi, Simone, Calcia, Alessandro, Di Gregorio, Eleonora, Cavalieri, Simona, Mancini, Cecilia, Pozzi, Elisa, Ferrero, Marta, Riberi, Evelise, Borelli, Iolanda, Amoroso, Antonio, Ferrero, Giovanni Battista, Tartaglia, Marco, Brusco, Alfredo
Published in European journal of paediatric neurology (01.05.2017)
Published in European journal of paediatric neurology (01.05.2017)
Get full text
Journal Article