Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Emanuela Abiusi"'
Autor:
Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Federica Diano, Agnese Novelli, Serena Spartano, Stefania Fiori, Giovanni Baranello, Isabella Moroni, Marina Mora, Maria Barbara Pasanisi, Krizia Pocino, Loredana Le Pera, Davide D'Amico, Lorena Travaglini, Francesco Ria, Claudio Bruno, Denise Locatelli, Enrico Silvio Bertini, Lucia Ovidia Morandi, Eugenio Mercuri, Lucia Di Marcotullio, Francesco Danilo Tiziano
Publikováno v:
eLife, Vol 10 (2021)
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration of the second motor neuron. The phenotype ranges from very severe to very mild forms. All patients have the homozygous loss of the SMN1 gene and a
Externí odkaz:
https://doaj.org/article/bbf222f706a849e584ec5dfb363b5831
Autor:
Nadia Ronzano, Marcello Scala, Emanuela Abiusi, Ilaria Contaldo, Chiara Leoni, Maria Stella Vari, Tiziana Pisano, Domenica Battaglia, Maurizio Genuardi, Maurizio Elia, Pasquale Striano, Dario Pruna
Publikováno v:
Seizure. 100:82-86
EEG anomalies and epilepsy are a not so rare clinical manifestation in patients with Phosphatase and tensin homolog (PTEN) variants. The main aim of this study is to analyze the characteristics of EEG traces, neuroimaging findings and epilepsy to bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c51dcefb6862fcf10ba554fb4a8a09c
https://doi.org/10.1016/j.seizure.2022.06.013
https://doi.org/10.1016/j.seizure.2022.06.013
Autor:
Stefania Boccia, Paul Brennan, Isao Oze, Keitaro Matsuo, Paolo Boffetta, Ariana Znaor, Gabriella Cadoni, Ståle Nygård, Maja Popovic, Jerry Polesel, Pagona Lagiou, Ivana Holcatova, Claire Mary Healy, Cristina Canova, Laia Alemany Vilches, Wolfgang Ahrens, Emanuela Abiusi, Dario Arzani, Rosarita Amore, Luca Giraldi, Francesco Danilo Tiziano, Michele Sassano, Roberta Pastorino
Background:Identification of screening tests for the detection of head and neck cancer (HNC) at an early stage is an important strategy to improving prognosis. Our objective was to identify plasma circulating miRNAs for the diagnosis of HNC (oral and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31492b2c1295701061de2a8a25cb0621
https://doi.org/10.1158/1055-9965.c.6660327
https://doi.org/10.1158/1055-9965.c.6660327
Autor:
Stefania Boccia, Paul Brennan, Isao Oze, Keitaro Matsuo, Paolo Boffetta, Ariana Znaor, Gabriella Cadoni, Ståle Nygård, Maja Popovic, Jerry Polesel, Pagona Lagiou, Ivana Holcatova, Claire Mary Healy, Cristina Canova, Laia Alemany Vilches, Wolfgang Ahrens, Emanuela Abiusi, Dario Arzani, Rosarita Amore, Luca Giraldi, Francesco Danilo Tiziano, Michele Sassano, Roberta Pastorino
Supplementary Table from Plasma miR-151-3p as a Candidate Diagnostic Biomarker for Head and Neck Cancer: A Cross-sectional Study within the INHANCE Consortium
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d69530b43c869e4d3e09d33b67300a8
https://doi.org/10.1158/1055-9965.23099385.v1
https://doi.org/10.1158/1055-9965.23099385.v1
Autor:
Marika Pane, Maria Alice Donati, Costanza Cutrona, Roberto De Sanctis, Matteo Pirinu, Giorgia Coratti, Martina Ricci, Concetta Palermo, Beatrice Berti, Daniela Leone, Chiara Ticci, Michele Sacchini, Margherita Cerboneschi, Anna Capasso, Gianpaolo Cicala, Maria Carmela Pera, Chiara Bravetti, Emanuela Abiusi, Alessandro Vaisfeld, Giovanni Vento, Francesco Danilo Tiziano, Eugenio Mercuri
Publikováno v:
European Journal of Pediatrics. 181:2821-2829
The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate the possible presence of early neurological signs. The aim of this study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9849237749dc45c8d727202c2d765cc8
https://doi.org/10.1007/s00431-022-04470-3
https://doi.org/10.1007/s00431-022-04470-3
Autor:
Emanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori, Agnese Novelli, Serena Spartano, Maria Vittoria Faggiano, Teresa Giovanniello, Antonio Angeloni, Giovanni Vento, Roberta Santoloci, Francesca Gigli, Adele D'Amico, Simonetta Costa, Alessia Porzi, Mara Panella, Chiara Ticci, Marta Daniotti, Michele Sacchini, Ilaria Boschi, Carlo Dani, Rino Agostiniani, Enrico Bertini, Antonio Lanzone, Giancarlo Lamarca, Maurizio Genuardi, Marika Pane, Maria Alice Donati, Eugenio Mercuri, Francesco Danilo Tiziano
Publikováno v:
Journal of medical genetics.
BackgroundSpinal muscular atrophy (SMA) is due to the homozygous absence ofSMN1in around 97% of patients, independent of the severity (classically ranked into types I–III). The high genetic homogeneity, coupled with the excellent results of presymp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb5c244ec2e0cfed8e236d87dcf12a1
https://pubmed.ncbi.nlm.nih.gov/36414255
https://pubmed.ncbi.nlm.nih.gov/36414255
Autor:
Roberta Pastorino, Michele Sassano, Francesco Danilo Tiziano, Luca Giraldi, Rosarita Amore, Dario Arzani, Emanuela Abiusi, Wolfgang Ahrens, Laia Alemany Vilches, Cristina Canova, Claire Mary Healy, Ivana Holcatova, Pagona Lagiou, Jerry Polesel, Maja Popovic, Ståle Nygård, Gabriella Cadoni, Ariana Znaor, Paolo Boffetta, Keitaro Matsuo, Isao Oze, Paul Brennan, Stefania Boccia
Publikováno v:
Cancer epidemiology, biomarkers & prevention, 31(12):2237-2243
Background: Identification of screening tests for the detection of head and neck cancer (HNC) at an early stage is an important strategy to improving prognosis. Our objective was to identify plasma circulating miRNAs for the diagnosis of HNC (oral an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::017f9f0d2305b998e4933a0cbe68bfe4
https://aacrjournals.org/cebp/article/31/12/2237/711112/Plasma-miR-151-3p-as-a-Candidate-Diagnostic#supplementary-data
https://aacrjournals.org/cebp/article/31/12/2237/711112/Plasma-miR-151-3p-as-a-Candidate-Diagnostic#supplementary-data
Autor:
Ivo Gut, Sarah Grotto, Céline Bellesme, Arnold Munnich, Cyril Gitiaux, Jeanne Amiel, Chloé Quélin, Annie Laquerrière, Suonavy Khung, Hanitra Ranjatoelina-Randrianaivo, Luc Rigonnot, Christine Francannet, Loic Quevarec, Jérôme Bouligand, Fabienne Prieur, Alexandra Benachi, Valérie Cormier-Daire, Laurence Perrin, Judith Melki, Pierre-Simon Jouk, Flora Nolent, Tania Attié-Bitach, Delphine Héron, Marie-Line Jacquemont, Claire Beneteau, Fabien Guimiot, Laetitia Lambert, Sandra Mercier, Valérie Biancalana, Fanny Laffargue, Elise Boucher, Jean-Louis Bessereau, P. Landrieu, Annick Toutain, Alain Verloes, Alice Goldenberg, Philippe Latour, Dominique Martin-Coignard, Anne Guiochon-Mantel, Dan Mejlachowicz, Damien Sternberg, Haluk Topaloglu, Bruno Eymard, Géraldine Viot, Catherine Fallet-Bianco, Julien Saada, Isabelle Desguerre, Marie-Hélène Saint-Frison, Catherine Vincent-Delorme, Sophie Blesson, Radka Stoeva, Alexandre J. Vivanti, Martine Bucourt, Pascaline Letard, Jérome Maluenda, Laurence Loeuillet, Lionel Van Maldergem, Didier Lacombe, Marcel Tawk, Michèle Granier, Stanislas Lyonnet, Anne-Lise Delezoide, Andrée Delahaye-Duriez, André Mégarbané, Marie Gonzales, Florence Petit, Juliette Piard, Laurence Faivre, Helene Verhelst, Bettina Bessières, Sabine Sigaudy, Sandra Whalen, Valérie Layet, Yline Capri, Fanny Pelluard, Emanuela Abiusi, Klaus Dieterich, Marie Vincent, Marine Legendre, Dana Jaber, Romulus Grigorescu, Florent Marguet, Eric Bieth, Helge Amthor, Christine Barnerias, Estelle Colin, Laetitia Trestard, Mathilde Nizon, Jelena Martinovic, Daniel Amram, Nicoletta Resta
Publikováno v:
JOURNAL OF MEDICAL GENETICS
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5ca5c2b4280785da88a26155872ce7
https://hdl.handle.net/1854/LU-8759575
https://hdl.handle.net/1854/LU-8759575
Autor:
Adele D'Amico, Lucia Morandi, Eugenio Mercuri, Lorena Travaglini, Francesco Danilo Tiziano, Maria Barbara Pasanisi, Ludovica Lospinoso Severini, Denise Locatelli, Paola Infante, Giovanni Baranello, Enrico Bertini, Agnese Novelli, Giorgia Coratti, Francesco Ria, Loredana Le Pera, Claudio Bruno, Isabella Moroni, Stefania Fiori, Cinzia Cagnoli, Marika Pane, Lucia Di Marcotullio, Davide D'Amico, Maria Carmela Pera, Krizia Pocino, Emanuela Abiusi, Federica Diano, Serena Spartano, Marina Mora
Publikováno v:
eLife
eLife, Vol 10 (2021)
eLife, Vol 10 (2021)
Background:Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration of the second motor neuron. The phenotype ranges from very severe to very mild forms. All patients have the homozygous loss of the SMN1 gene and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9ca226749f62e0224adb7b98eaf941e
http://europepmc.org/articles/PMC8486378
http://europepmc.org/articles/PMC8486378
Autor:
Simona Amenta, Amy C. Sturm, Ahmad S. Amin, Francesco Mazzarotto, Valentina Trevisan, Eline A. Nannenberg, Arnon Adler, Roddy Walsh, Emanuela Abiusi, Harriet Feilotter, Melanie Care, Arthur A.M. Wilde, Marco V Perez, Hennie Bikker, Wojciech Zareba, James S. Ware, Ray E. Hershberger, Michael H. Gollob, John Garcia, Valeria Novelli
Publikováno v:
European heart journal, 43(15), 1500-1510. Oxford University Press
Walsh, R, Adler, A, Amin, A S, Abiusi, E, Care, M, Bikker, H, Amenta, S, Feilotter, H, Nannenberg, E A, Mazzarotto, F, Trevisan, V, Garcia, J, Hershberger, R E, Perez, M V, Sturm, A C, Ware, J S, Zareba, W, Novelli, V, Wilde, A A M & Gollob, M H 2022, ' Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death ', European Heart Journal, vol. 43, no. 15, pp. 1500-1510 . https://doi.org/10.1093/eurheartj/ehab687
European Heart Journal, 43(15), 1500-1510. Oxford University Press
Walsh, R, Adler, A, Amin, A S, Abiusi, E, Care, M, Bikker, H, Amenta, S, Feilotter, H, Nannenberg, E A, Mazzarotto, F, Trevisan, V, Garcia, J, Hershberger, R E, Perez, M V, Sturm, A C, Ware, J S, Zareba, W, Novelli, V, Wilde, A A M & Gollob, M H 2022, ' Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death ', European Heart Journal, vol. 43, no. 15, pp. 1500-1510 . https://doi.org/10.1093/eurheartj/ehab687
European Heart Journal, 43(15), 1500-1510. Oxford University Press
Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death. Numerous genes have been reported to cause these conditions, but evidence supporting th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3764116d4e6e0e85193a318ef5d58381
http://hdl.handle.net/11379/551661
http://hdl.handle.net/11379/551661