Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Gabriella Bottone"'
1
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Autor: Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, null Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S. Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W. Saadi, Maha S. Zaki, Chahnez C. Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G. Karimiani, Ahmed M. Salih, Luca A. Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F. Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F. Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D. Mangano, Francesco Chiarelli, Queen Square Genomics
Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52
https://hdl.handle.net/20.500.12445/2759
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4
Pediatric Tuberculosis in Italian Children: Epidemiological and Clinical Data from the Italian Register of Pediatric Tuberculosis
Autor: Alberto Villani, Patrizia Ballista, Luisa Galli, Laura Castiglioni, Elena Chiappini, Daniele Le Serre, Samantha Bosis, Gian Luigi Marseglia, Maurizio de Martino, Giuseppe Losurdo, Laura Lancella, Maria Di Gangi, Filippo Salvini, Cristina Venturelli, Andrea Lo Vecchio, Barbara Maria Bergamini, Eugenia Bruzzese, Elena Boccuzzi, Caterina Marabotto, Susanna Esposito, Michele Pinon, Piero Valentini, Laura Cursi, Elisa Fiumana, Elio Castagnola, Grazia Bossi, Marco Montesanti, Francesca Maschio, Chiara Fornabaio, Giulia Tosetti, Elisabetta Venturini, Alfredo Guarino, Margherita Codifava, Gabriella Bottone, Icilio Dodi, Rita Grandolfo, Carla Lupi, Nicola Palladino, Mariella Valenzise, Raffaele Domenici, V. Portelli, Danilo Buonsenso, Valentina Fiorito, Barbara Vecchi, Luisa Abbagnato, Pier-Angelo Tovo, Enrica Riva, Silvia Garazzino, Chiara Tersigni
Publikováno v: International Journal of Molecular Sciences, Vol 17, Iss 6, p 960 (2016)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 17; Issue 6; Pages: 960
Tuberculosis (TB) is one of the leading causes of death worldwide. Over the last decades, TB has also emerged in the pediatric population. Epidemiologic data of childhood TB are still limited and there is an urgent need of more data on very large coh
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad0fde647d00fa5f0ff6dc5bf99f681a
https://hdl.handle.net/2108/317184
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6
Trace element content in human milk during lactation of preterm newborns
Autor: Elvira Aquilio, Gianfranco Spennati, Gabriella Bottone, Roberta Spagnoli, S. Seri
Publikováno v: Biological trace element research. 51(1)
The present study has been finalized to perform the content of Zn, Cu, Cr, Se, Mn, F, Mo, Ni, and B in the preterm human milk over 21 d of lactation. Trace element (TE) contents were analyzed by inductively coupled plasma atomic emission spectroscopy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcfdba63ce1ca2e91e23ba892267ee6c
https://pubmed.ncbi.nlm.nih.gov/8834381
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