المؤلفون: Tagliavini, Francesca <1984>

مرشدي الرسالة: Cocco, Lucio Ildebrando

مصطلحات موضوعية: BIO/16 Anatomia umana

وصف الملف: application/pdf

الإتاحة: http://amsdottorato.unibo.it/4261Test/

المؤلفون: Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, Lenaers, Guy

المساهمون: Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, Lenaers, Guy

مصطلحات موضوعية: ACO2, Krebs cycle, aconitase 2, mitochondria, optic neuropathy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34056600; info:eu-repo/semantics/altIdentifier/wos/WOS:000667313900035; volume:3; issue:2; firstpage:fcab063; lastpage:fcab063; numberofpages:12; journal:BRAIN COMMUNICATIONS; http://hdl.handle.net/11585/864610Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111995186; https://academic.oup.com/braincomms/article/3/2/fcab063/6214529?login=trueTest

الإتاحة: https://doi.org/10.1093/braincomms/fcab063Test
http://hdl.handle.net/11585/864610Test
https://academic.oup.com/braincomms/article/3/2/fcab063/6214529?login=trueTest

المؤلفون: Maresca, Alessandra, Del Dotto, Valentina, Capristo, Mariantonietta, Scimonelli, Emanuela, Tagliavini, Francesca, Morandi, Luca, Tropeano, Concetta Valentina, Caporali, Leonardo, Mohamed, Susan, Roberti, Marina, Scandiffio, Letizia, Zaffagnini, Mirko, Rossi, Jacopo, Cappelletti, Martina, Musiani, Francesco, Contin, Manuela, Riva, Roberto, Liguori, Rocco, Pizza, Fabio, La Morgia, Chiara, Antelmi, Elena, Polosa, Paola Loguercio, Mignot, Emmanuel, Zanna, Claudia, Plazzi, Giuseppe, Carelli, Valerio

المساهمون: Maresca, Alessandra, Del Dotto, Valentina, Capristo, Mariantonietta, Scimonelli, Emanuela, Tagliavini, Francesca, Morandi, Luca, Tropeano, Concetta Valentina, Caporali, Leonardo, Mohamed, Susan, Roberti, Marina, Scandiffio, Letizia, Zaffagnini, Mirko, Rossi, Jacopo, Cappelletti, Martina, Musiani, Francesco, Contin, Manuela, Riva, Roberto, Liguori, Rocco, Pizza, Fabio, La Morgia, Chiara, Antelmi, Elena, Polosa, Paola Loguercio, Mignot, Emmanuel, Zanna, Claudia, Plazzi, Giuseppe, Carelli, Valerio

مصطلحات موضوعية: DNMT1 mutations

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31984424; info:eu-repo/semantics/altIdentifier/wos/WOS:000572094600009; volume:29; issue:11; firstpage:1864; lastpage:1881; numberofpages:18; journal:HUMAN MOLECULAR GENETICS ONLINE; http://hdl.handle.net/11380/1205868Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088493723

الإتاحة: https://doi.org/10.1093/hmg/ddaa014Test
http://hdl.handle.net/11380/1205868Test

المؤلفون: La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, Carelli, Valerio

المساهمون: La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, Carelli, Valerio

مصطلحات موضوعية: mitochondrial dysfunction, Wolfram Syndrome

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32179840; info:eu-repo/semantics/altIdentifier/wos/WOS:000543990300001; volume:10; issue:1; firstpage:1; lastpage:15; numberofpages:15; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11585/752754Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082014117; https://www.nature.com/srepTest/

الإتاحة: https://doi.org/10.1038/s41598-020-61735-3Test
http://hdl.handle.net/11585/752754Test
https://www.nature.com/srepTest/

المؤلفون: Stenton, Sarah L, Sheremet, Natalia L, Catarino, Claudia B, Andreeva, Natalia A, Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L, Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S, Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D, Kunz, Wolfram S, La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F, Maresca, Alessandra, Mayr, Johannes A, Meisterknecht, Jana, Nevinitsyna, Tatiana A, Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S, Strom, Tim M, Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T, Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y, Zhorzholadze, Nino V, Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G, Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger

المساهمون: S.L. Stenton, N.L. Sheremet, C.B. Catarino, N.A. Andreeva, Z. Assouline, P. Barboni, O. Barel, R. Berutti, I. Bychkov, L. Caporali, M. Capristo, M. Carbonelli, M.L. Cascavilla, P. Charbel Issa, P. Freisinger, S. Gerber, D. Ghezzi, E. Graf, J. Heidler, M. Hempel, E. Heon, Y.S. Itki, E. Javasky, J. Kaplan, R. Kopajtich, C. Kornblum, R. Kovacs-Nagy, T.D. Krylova, W.S. Kunz, C. La Morgia, C. Lamperti, C. Ludwig, P.F. Malacarne, A. Maresca, J.A. Mayr, J. Meisterknecht, T.A. Nevinitsyna, F. Palombo, B. Pode-Shakked, M.S. Shmelkova, T.M. Strom, F. Tagliavini, M. Tzadok, A.T. van der Ven, C. Vignal-Clermont, M. Wagner, E.Y. Zakharova, N.V. Zhorzholadze, J. Rozet, V. Carelli, P.G. Tsygankova, T. Klopstock, I. Wittig, H. Prokisch

مصطلحات موضوعية: Genetic disease, Genetic, Neuroscience, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33465056; info:eu-repo/semantics/altIdentifier/wos/WOS:000663118600006; volume:131; issue:6; firstpage:1; lastpage:13; numberofpages:13; journal:THE JOURNAL OF CLINICAL INVESTIGATION; http://hdl.handle.net/2434/863462Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102720298

الإتاحة: https://doi.org/10.1172/JCI138267Test
http://hdl.handle.net/2434/863462Test

المؤلفون: Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy

مصطلحات موضوعية: 31 Biological Sciences, 32 Biomedical and Clinical Sciences, 3105 Genetics, 3212 Ophthalmology and Optometry, Genetics, FOS Biological sciences, Brain Disorders, Neurosciences, FOS Clinical medicine, Clinical Research, Eye Disease and Disorders of Vision, Neurodegenerative, Rare Diseases, 2.1 Biological and endogenous factors, 2 Aetiology, Neurological

الإتاحة: https://doi.org/10.17863/cam.54451Test
https://www.repository.cam.ac.uk/handle/1810/307361Test

المؤلفون: Caporali, Leonardo, Magri, Stefania, Legati, Andrea, Del Dotto, Valentina, Tagliavini, Francesca, Balistreri, Francesca, Nasca, Alessia, La Morgia, Chiara, Carbonelli, Michele, Valentino, Maria L., Lamantea, Eleonora, Baratta, Silvia, Schöls, Ludger, Schüle, Rebecca, Barboni, Piero, Cascavilla, Maria L., Maresca, Alessandra, Capristo, Mariantonietta, Ardissone, Anna, Pareyson, Davide, Cammarata, Gabriella, Melzi, Lisa, Zeviani, Massimo, Peverelli, Lorenzo, Lamperti, Costanza, Marzoli, Stefania B., Fang, Mingyan, Synofzik, Matthis, Ghezzi, Daniele, Carelli, Valerio, Taroni, Franco

المساهمون: Fondazione Pierfranco e Luisa Mariani, Fondazione Telethon, Foundation for the National Institutes of Health, Horizon 2020 Framework Programme, Ministero della Salute

المصدر: Annals of Neurology ; volume 88, issue 1, page 18-32 ; ISSN 0364-5134 1531-8249

الإتاحة: https://doi.org/10.1002/ana.25723Test

المؤلفون: La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, Carelli, Valerio

المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-020-67203-2Test
https://www.nature.com/articles/s41598-020-67203-2.pdfTest
https://www.nature.com/articles/s41598-020-67203-2Test

المؤلفون: Ronchi, Dario, Caporali, Leonardo, Manenti, Giulia Francesca, Meneri, Megi, Mohamed, Susan, Bordoni, Andreina, Tagliavini, Francesca, Contin, Manuela, Piga, Daniela, Sciacco, Monica, Saetti, Cristina, Carelli, Valerio, Comi, Giacomo Pietro

المصدر: Frontiers in Genetics ; volume 11 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2020.00860Test

المؤلفون: Caporali, Leonardo, Iommarini, Luisa, La Morgia, Chiara, Olivieri, Anna, Achilli, Alessandro, Maresca, Alessandra, Valentino, Maria Lucia, Capristo, Mariantonietta, Tagliavini, Francesca, Del Dotto, Valentina, Zanna, Claudia, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Cocetta, Veronica, Montopoli, Monica, Martinuzzi, Andrea, Cenacchi, Giovanna, De Michele, Giuseppe, Testa, Francesco, Nesti, Anna, Simonelli, Francesca, Porcelli, Anna Maria, Torroni, Antonio, Carelli, Valerio

المساهمون: Caporali, Leonardo, Iommarini, Luisa, La Morgia, Chiara, Olivieri, Anna, Achilli, Alessandro, Maresca, Alessandra, Valentino, Maria Lucia, Capristo, Mariantonietta, Tagliavini, Francesca, Del Dotto, Valentina, Zanna, Claudia, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Cocetta, Veronica, Montopoli, Monica, Martinuzzi, Andrea, Cenacchi, Giovanna, De Michele, Giuseppe, Testa, Francesco, Nesti, Anna, Simonelli, Francesca, Porcelli, Anna Maria, Torroni, Antonio, Carelli, Valerio

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29444077; info:eu-repo/semantics/altIdentifier/wos/WOS:000426361900019; volume:14; issue:2; firstpage:e1007210; journal:PLOS GENETICS; http://hdl.handle.net/11577/3259026Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85043303250

الإتاحة: https://doi.org/10.1371/journal.pgen.1007210Test
http://hdl.handle.net/11577/3259026Test