المؤلفون: Joseph, Chinnu Rose, Dusi, Sabrina, Giannattasio, Michele, Branzei, Dana

المساهمون: EC | Horizon 2020 Framework Programme, Associazione Italiana per la Ricerca sul Cancro

المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-022-30215-9
https://www.nature.com/articles/s41467-022-30215-9.pdf
https://www.nature.com/articles/s41467-022-30215-9

المؤلفون: Abe, Takuya, Kawasumi, Ryotaro, Giannattasio, Michele, Dusi, Sabrina, Yoshimoto, Yui, Miyata, Keiji, Umemura, Koyuki, Hirota, Kouji, Branzei, Dana

المساهمون: Associazione Italiana per la Ricerca sul Cancro, EC | European Research Council

المصدر: Nature Communications ; volume 9, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-018-05586-7
https://www.nature.com/articles/s41467-018-05586-7.pdf
https://www.nature.com/articles/s41467-018-05586-7

المؤلفون: Brea Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, RESTA, Nicoletta, LAFORGIA, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele

المساهمون: Brea Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thoma, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele

مصطلحات موضوعية: Amino Acid Sequence, Ataxia, Base Sequence, Exome, Fatal Outcome, Female, Gene Component, Human, Male, Mitochondrial Disease, Mitochondrial Protein, Molecular Sequence Data, Muscle Weakne, Mutation, Pedigree, Saccharomyces cerevisiae, Sequence Analysis, DNA, Ubiquinone, Phenotype, Genetic, Genetics (clinical)

Relation: info:eu-repo/semantics/altIdentifier/pmid/25658047; info:eu-repo/semantics/altIdentifier/wos/WOS:000349276700013; volume:96; issue:2; firstpage:309; lastpage:317; numberofpages:9; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11586/177655; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84924942443; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#description

الاتاحة: http://hdl.handle.net/11586/177655
https://doi.org/10.1016/j.ajhg.2014.12.023
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#description

المؤلفون: Girolimetti, Giulia, Guerra, Flora, Iommarini, Luisa, Kurelac, Ivana, Vergara, Daniele, Maffia, Michele, Vidone, Michele, Amato, Laura Benedetta, Leone, Giulia, Dusi, Sabrina, Tiranti, Valeria, Perrone, Anna Myriam, Bucci, Cecilia, Porcelli, Anna Maria, Gasparre, Giuseppe

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

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/182330

الاتاحة: https://www.openaccessrepository.it/record/182330
https://doi.org/10.1093/hmg/ddx186

المؤلفون: Orellana, Daniel I, Santambrogio, Paolo, Rubio, Alicia, Yekhlef, Latefa, Cancellieri, Cinzia, Dusi, Sabrina, Giannelli, Serena G, Venco, Paola, Mazzara, Pietro G, Cozzi, Anna, Ferrari, Maurizio, Garavaglia, Barbara, Taverna, Stefano, Tiranti, Valeria, Broccoli, Vania, Levi, Sonia

المساهمون: Fondazione Telethon, Ministero della Salute, European Research Council, Fondazione Pierfranco e Luisa Mariani

المصدر: EMBO Molecular Medicine ; volume 8, issue 10, page 1197-1211 ; ISSN 1757-4676 1757-4684

الاتاحة: http://dx.doi.org/10.15252/emmm.201606391
https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.201606391
https://onlinelibrary.wiley.com/doi/full-xml/10.15252/emmm.201606391
https://www.embopress.org/doi/pdf/10.15252/emmm.201606391

المؤلفون: Onesto, Elisa, Colombrita, Claudia, Gumina, Valentina, Borghi, Maria Orietta, Dusi, Sabrina, Doretti, Alberto, Fagiolari, Gigliola, Invernizzi, Federica, Moggio, Maurizio, Tiranti, Valeria, Silani, Vincenzo, Ratti, Antonia

المساهمون: Fondazione Telethon, Fondazione Pierfranco e Luisa Mariani

المصدر: Acta Neuropathologica Communications ; volume 4, issue 1 ; ISSN 2051-5960

الاتاحة: http://dx.doi.org/10.1186/s40478-016-0316-5
http://link.springer.com/content/pdf/10.1186/s40478-016-0316-5

المؤلفون: Berti, Camilla, Dallabona, Cristina, Lazzaretti, Mirca, Dusi, Sabrina, Tosi, Elena, Tiranti, Valeria, Goffrini, Paola

المصدر: Microbial Cell ; volume 2, issue 4, page 126-135 ; ISSN 2311-2638

الاتاحة: http://dx.doi.org/10.15698/mic2015.04.196
http://microbialcell.com/wordpress/wp-content/uploads/2015/04/2015A-Berti-Microbial-Cell.pdf

المؤلفون: Santambrogio, Paolo, Dusi, Sabrina, Guaraldo, Michela, Rotundo, Luisa Ida, Broccoli, Vania, Garavaglia, Barbara, Tiranti, Valeria, Levi, Sonia

المساهمون: Telethon-Italia, AISNAF, European Commission's Seventh Framework Programme, European Research Council

المصدر: Neurobiology of Disease ; volume 81, page 144-153 ; ISSN 0969-9961

الاتاحة: http://dx.doi.org/10.1016/j.nbd.2015.02.030
https://api.elsevier.com/content/article/PII:S0969996115000984?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0969996115000984?httpAccept=text/plain

المؤلفون: Brunetti, Dario, Dusi, Sabrina, Giordano, Carla, Lamperti, Costanza, Morbin, Michela, Fugnanesi, Valeria, Marchet, Silvia, Fagiolari, Gigliola, Sibon, Ody, Moggio, Maurizio, D'Amati, Giulia, Tiranti, Valeria

المساهمون: D. Brunetti, S. Dusi, C. Giordano, C. Lamperti, M. Morbin, V. Fugnanesi, S. Marchet, G. Fagiolari, O. Sibon, M. Moggio, G. D'Amati, V. Tiranti

مصطلحات موضوعية: ketogenic diet, mitochondria, pantethine, pantothenate kinase-associated neurodegeneration (PKAN), Animal, Behavior, Brain, Cholesterol, Diet, Ketogenic, Energy Metabolism, Female, Heredodegenerative Disorders, Nervous System, Immunohistochemistry, Male, Membrane Potential, Mitochondrial, Mice, Knockout, Microscopy, Electron, Motor Skill, Neuron, Pantetheine, Peripheral Nervous System, Phenotype, Phosphotransferases (Alcohol Group Acceptor), Sciatic Nerve, Triglyceride

Relation: info:eu-repo/semantics/altIdentifier/pmid/24316510; info:eu-repo/semantics/altIdentifier/wos/WOS:000330434000009; volume:137; issue:1; firstpage:57; lastpage:68; numberofpages:12; journal:BRAIN; http://hdl.handle.net/2434/622792; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84892734388

الاتاحة: http://hdl.handle.net/2434/622792
https://doi.org/10.1093/brain/awt325

المؤلفون: Dusi, Sabrina, Valletta, Lorella, Haack, Tobias B., Tsuchiya, Yugo, Venco, Paola, Pasqualato, Sebastiano, Goffrini, Paola, Tigano, Marco, Demchenko, Nikita, Wieland, Thomas, Schwarzmayr, Thomas, Strom, Tim M., Invernizzi, Federica, Garavaglia, Barbara, Gregory, Allison, Sanford, Lynn, Hamada, Jeffrey, Bettencourt, Conceição, Houlden, Henry, Chiapparini, Luisa, Zorzi, Giovanna, Kurian, Manju A., Nardocci, Nardo, Prokisch, Holger, Hayflick, Susan, Gout, Ivan, Tiranti, Valeria

المصدر: The American Journal of Human Genetics ; volume 94, issue 1, page 11-22 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2013.11.008
https://api.elsevier.com/content/article/PII:S0002929713005235?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0002929713005235?httpAccept=text/xml

المؤلفون: Brunetti, Dario, Dusi, Sabrina, Morbin, Michela, Uggetti, Andrea, Moda, Fabio, D'Amato, Ilaria, Giordano, Carla, d'Amati, Giulia, Cozzi, Anna, Levi, Sonia, Hayflick, Susan, Tiranti, Valeria

المساهمون: D. Brunetti, S. Dusi, M. Morbin, A. Uggetti, F. Moda, I. D'Amato, C. Giordano, G. D'Amati, A. Cozzi, S. Levi, S. Hayflick, V. Tiranti

مصطلحات موضوعية: Coenzyme-A, iron accumulation, cell, PANK2, mice, biosynthesi, localization, degeneration, dysfunction, azoospermia, Settore BIO/14 - Farmacologia, Settore BIO/18 - Genetica

Relation: info:eu-repo/semantics/altIdentifier/pmid/22983956; info:eu-repo/semantics/altIdentifier/wos/WOS:000311965600006; volume:21; issue:24; firstpage:5294; lastpage:5305; numberofpages:12; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2434/622806

الاتاحة: http://hdl.handle.net/2434/622806
https://doi.org/10.1093/hmg/dds380

المؤلفون: Hartig, Monika B., Iuso, Arcangela, Haack, Tobias, Kmiec, Tomasz, Jurkiewicz, Elzbieta, Heim, Katharina, Roeber, Sigrun, Tarabin, Victoria, Dusi, Sabrina, Krajewska-Walasek, Malgorzata, Jozwiak, Sergiusz, Hempel, Maja, Winkelmann, Juliane, Elstner, Matthias, Oexle, Konrad, Klopstock, Thomas, Mueller-Felber, Wolfgang, Gasser, Thomas, Trenkwalder, Claudia, Tiranti, Valeria, Kretzschmar, Hans, Schmitz, Gerd, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger

المصدر: The American Journal of Human Genetics ; volume 89, issue 4, page 543-550 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2011.09.007
https://api.elsevier.com/content/article/PII:S0002929711003971?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929711003971?httpAccept=text/plain

المؤلفون: Albani, Diego, Prato, Francesca, Fenoglio, Chiara, Batelli, Sara, Dusi, Sabrina, De Mauro, Stefania, Polito, Letizia, Lovati, Carlo, Galimberti, Daniela, Mariani, Claudio, Scarpini, Elio, Forloni, Gianluigi

المصدر: Journal of Human Genetics ; volume 53, issue 11-12, page 1029-1033 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1007/s10038-008-0344-5
http://www.nature.com/articles/jhg2008133.pdf
http://www.nature.com/articles/jhg2008133

المؤلفون: Marchet, Silvia, Invernizzi, Federica, Blasevich, Flavia, Bruno, Valentina, Dusi, Sabrina, Venco, Paola, Fiorillo, Chiara, Baranello, Giovanni, Pallotti, Francesco, Lamantea, Eleonora, Mora, Marina, Tiranti, Valeria, Lamperti, Costanza.

المساهمون: Marchet, Silvia, Invernizzi, Federica, Blasevich, Flavia, Bruno, Valentina, Dusi, Sabrina, Venco, Paola, Fiorillo, Chiara, Baranello, Giovanni, Pallotti, Francesco, Lamantea, Eleonora, Mora, Marina, Tiranti, Valeria, Lamperti, Costanza.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/30986505; info:eu-repo/semantics/altIdentifier/wos/WOS:000475547200004; volume:47; firstpage:24; lastpage:29; numberofpages:6; journal:MITOCHONDRION; http://hdl.handle.net/11567/943647; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065039547

الاتاحة: http://hdl.handle.net/11567/943647
https://doi.org/10.1016/j.mito.2019.04.002

المؤلفون: CECCATELLI BERTI, Camilla, DALLABONA, Cristina, CARNEVALI, CHIARA, Pettenati Elisa, Dusi Sabrina, Tiranti Valeria, GOFFRINI, Paola

المساهمون: CECCATELLI BERTI, Camilla, Dallabona, Cristina, Carnevali, Chiara, Pettenati, Elisa, Dusi, Sabrina, Tiranti, Valeria, Goffrini, Paola

Relation: ispartofbook:27th International Conference on Yeast Genetics and Molecular Biology; 27th International Conference on Yeast Genetics and Molecular Biology; volume:32; firstpage:175; lastpage:175; numberofpages:1; journal:YEAST; http://hdl.handle.net/11381/2795852

الاتاحة: http://hdl.handle.net/11381/2795852

المؤلفون: Dolce, Valeria, Dusi, Sabrina, Giannattasio, Michele, Joseph, Chinnu Rose, Fumasoni, Marco, Branzei, Dana

المصدر: Genes & Development; 2022, Vol. 36 Issue: 3-4 p167-179, 13p

المؤلفون: Venco, Paola, Valletta, Lorella, Tiranti, Valeria, DUSI, SABRINA

المساهمون: Venco, Paola, Dusi, Sabrina, Valletta, Lorella, Tiranti, Valeria

مصطلحات موضوعية: Brain, Coenzyme A (CoA), Inborn error of metabolism, Mitochondrion, Neurodegeneration, Pantothenate kinase 2 (PANK2), Animal, Coenzyme A, Human, Iron, Metabolism, Inborn Error, Mitochondria, Neurodegenerative Disease, Phosphotransferases (Alcohol Group Acceptor), Biochemistry, Medicine (all)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/25110004; info:eu-repo/semantics/altIdentifier/wos/WOS:000340329200057; volume:42; issue:4; firstpage:1069; lastpage:1074; numberofpages:6; journal:BIOCHEMICAL SOCIETY TRANSACTIONS; http://hdl.handle.net/11585/581780; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84905842273; http://www.biochemsoctrans.org/bst/042/1069/0421069.pdf

الاتاحة: http://hdl.handle.net/11585/581780
https://doi.org/10.1042/BST20140106
http://www.biochemsoctrans.org/bst/042/1069/0421069.pdf

المؤلفون: Onesto, Elisa, Colombrita, Claudia, Gumina, Valentina, Borghi, Maria, Dusi, Sabrina, Doretti, Alberto, Fagiolari, Gigliola, Invernizzi, Federica, Moggio, Maurizio, Tiranti, Valeria, Silani, Vincenzo, Ratti, Antonia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104db76f982ee6bf2320f74967343f67

المؤلفون: Leoni, Valerio, Strittmatter, Laura, Zorzi, Giovanna, Zibordi, Federica, Garavaglia, Barbara, Venco, Paola, Caccia, Claudio, Souza, Amanda L., Deik, Amy, Clish, Clary B., Rimoldi, Marco, Ciusani, Emilio, Bertini, Enrico, Nardocci, Nardo, Mootha, Vamsi K., Tiranti, Valeria, DUSI, SABRINA

المساهمون: Leoni, Valerio, Strittmatter, Laura, Zorzi, Giovanna, Zibordi, Federica, Dusi, Sabrina, Garavaglia, Barbara, Venco, Paola, Caccia, Claudio, Souza, Amanda L., Deik, Amy, Clish, Clary B., Rimoldi, Marco, Ciusani, Emilio, Bertini, Enrico, Nardocci, Nardo, Mootha, Vamsi K., Tiranti, Valeria

مصطلحات موضوعية: Cholesterol, Coenzyme A, Metabolomic, Mitochondria, PKAN, Adolescent, Adult, Bile Acids and Salt, Child, Preschool, Codon, Nonsense, Cohort Studie, Female, Human, Iron Metabolism Disorder, Lactic Acid, Lipid Metabolism, Lipid Metabolism Disorder, Male, Metabolome, Neuroaxonal Dystrophie, Pantothenate Kinase-Associated Neurodegeneration, Pantothenic Acid, Phosphotransferases (Alcohol Group Acceptor), Sphingomyelin, Young Adult, Biochemistry, Molecular Biology, Genetic

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/22221393; info:eu-repo/semantics/altIdentifier/wos/WOS:000301906400173; volume:105; issue:3; firstpage:463; lastpage:471; numberofpages:9; journal:MOLECULAR GENETICS AND METABOLISM; http://hdl.handle.net/11585/581790; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84858285697

الاتاحة: http://hdl.handle.net/11585/581790
https://doi.org/10.1016/j.ymgme.2011.12.005

المؤلفون: Panteghini, Celeste, Zorzi, Giovanna, Venco, Paola, Reale, Chiara, Brunetti, Dario, Chiapparini, Luisa, Zibordi, Federica, Siegel, Brigitte, Garavaglia, Barbara, Simonati, Alessandro, Bertini, Enrico, Nardocci, Nardo, Tiranti, Valeria, DUSI, SABRINA

المساهمون: Panteghini, Celeste, Zorzi, Giovanna, Venco, Paola, Dusi, Sabrina, Reale, Chiara, Brunetti, Dario, Chiapparini, Luisa, Zibordi, Federica, Siegel, Brigitte, Garavaglia, Barbara, Simonati, Alessandro, Bertini, Enrico, Nardocci, Nardo, Tiranti, Valeria

مصطلحات موضوعية: Adolescent, Adult, Cohort Studie, DNA Mutational Analysi, Female, Genetic Predisposition to Disease, Genotype, Human, Iron Metabolism Disorder, Italy, Male, Microscopy, Electron, Transmission, Mitochondrial Protein, Mixed Function Oxygenase, Mutation, Neuroaxonal Dystrophie, Skin, Young Adult, Neurology (clinical), Pediatrics, Perinatology and Child Health

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/22704260; info:eu-repo/semantics/altIdentifier/wos/WOS:000305778300005; volume:19; issue:2; firstpage:75; lastpage:81; numberofpages:7; journal:SEMINARS IN PEDIATRIC NEUROLOGY; http://hdl.handle.net/11585/581784; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84862311702

الاتاحة: http://hdl.handle.net/11585/581784
https://doi.org/10.1016/j.spen.2012.03.006