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

Authors: Rubino, Elisa, Boschi, Silvia, Giorgio, Elisa, Pozzi, Elisa, Marcinnò, Andrea, Gallo, Erica, Roveta, Fausto, Grassini, Alberto, Brusco, Alfredo, Rainero, Innocenzo

Source: In Neurobiology of Pain January-July 2022 11

A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy

Authors: 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

Source: Human mutation. 42(1):102-116

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114137494.0x000001&indx=1&recIds=ETOCvdc_100114137494.0x000001

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

Authors: 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

Source: In Neurobiology of Disease April 2019 124:14-28

MicroRNA dysregulation in ataxia telangiectasia.

Authors: 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

Source: Frontiers in Immunology; 2024, p1-14, 14p

Subject Terms: GENE expression, MONONUCLEAR leukocytes, ATAXIA telangiectasia, DNA repair, BLOOD testing

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

Authors: 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

Source: In The Journal of Molecular Diagnostics May 2018 20(3):289-297

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes

Authors: 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

Source: In European Journal of Paediatric Neurology May 2017 21(3):475-484

Efficient wastewater sample filtration improves the detection of SARS-CoV-2 variants: An extensive analysis based on sequencing parameters.

Authors: 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

Source: PLoS ONE; 5/25/2024, Vol. 19 Issue 5, p1-17, 17p

Subject Terms: SARS-CoV-2, SEWAGE, COVID-19 pandemic, SEQUENCE analysis, WORLD War II

Company/Entity: EUROPEAN Commission

Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia

Authors: Squadrone, Stefania, Brizio, Paola, Mancini, Cecilia, Pozzi, Elisa, Cavalieri, Simona, Abete, Maria Cesarina, Brusco, Alfredo

Source: In Neurobiology of Disease September 2015 81:162-167

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients.

Authors: Pozzi, Elisa¹, Giorgio, Elisa¹, Mancini, Cecilia¹, Lo Buono, Nicola², Augeri, Stefania¹, Ferrero, Marta¹, Di Gregorio, Eleonora³, Riberi, Evelise⁴, Vinciguerra, Maria⁵, Nanetti, Lorenzo⁶, Bianchi, Federico Tommaso⁷, Sassi, Maria Paola⁸, Costanzo, Vincenzo⁵, Mariotti, Caterina⁶, Funaro, Ada¹, Cavalieri, Simona¹, Brusco, Alfredo^1,3 alfredo.brusco@unito.it

Source: Scientific Reports. 11/19/2020, Vol. 10 Issue 1, p1-8. 8p.

Subject Terms: *GLUCOCORTICOIDS, *ATAXIA telangiectasia, *DEXAMETHASONE, *FIBROBLASTS, *TELANGIECTASIA

Stillbirths in singletons, dichorionic and monochorionic twins: a comparison of risks and causes

Authors: Russo, Francesca M., Pozzi, Elisa, Pelizzoni, Francesca, Todyrenchuk, Lyudmyla, Bernasconi, Davide P., Cozzolino, Sabrina, Vergani, Patrizia

Source: In European Journal of Obstetrics and Gynecology August 2013 170(1):131-136

Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.

Authors: 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

Source: Human Genetics; Aug2023, Vol. 142 Issue 8, p1055-1076, 22p

Subject Terms: SPINOCEREBELLAR ataxia, GOLGI apparatus, MISSENSE mutation, PROTEIN structure, AMINO acid sequence

Preterm twins: What threshold of birth weight discordance heralds major adverse neonatal outcome?

Authors: Vergani, Patrizia, Locatelli, Anna, Ratti, Marta, Scian, Antonietta, Pozzi, Elisa, Pezzullo, John C., Ghidini, Alessandro

Source: In American Journal of Obstetrics and Gynecology October 2004 191(4):1441-1445

Doppler predictors of adverse neonatal outcome in the growth restricted fetus at 34 weeks' gestation or beyond

Authors: Vergani, Patrizia, Andreotti, Camilla, Roncaglia, Nadia, Zani, Giulia, Pozzi, Elisa, Pezzullo, John C, Ghidini, Alessandro

Source: In American Journal of Obstetrics and Gynecology 2003 189(4):1007-1011

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Authors: Cavalieri, Simona¹, Pozzi, Elisa¹, Gatti, Richard A², Brusco, Alfredo¹

Source: European Journal of Human Genetics. Jul2013, Vol. 21 Issue 7, p774-778. 5p. 2 Diagrams.

Subject Terms: *GENETIC disorders, *GENETIC mutation, *NUCLEOTIDE sequence, *ANTISENSE DNA, *OLIGONUCLEOTIDES, *MEDICAL screening

Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome

Authors: Pozzi, Elisa, Vergani, Patrizia, Dalprà, Leda, Combi, Romina, Silvestri, Daniela, Crosti, Francesca, Dell′Orto, Mariagrazia, Valsecchi, Maria Grazia

Source: In American Journal of Obstetrics and Gynecology 2009 200(6):636-636

Identifying the causes of stillbirth: a comparison of four classification systems

Authors: Vergani, Patrizia, Cozzolino, Sabrina, Pozzi, Elisa, Cuttin, Maria Serena, Greco, Massimiliano, Ornaghi, Sara, Lucchini, Valeria

Source: In American Journal of Obstetrics and Gynecology 2008 199(3):319-319

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