المؤلفون: Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Parra, Karen Vargas, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Group, SYNaPS Study, Genomics, University of Washington Center for Mendelian, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M, Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

المصدر: American Journal of Human Genetics. 108(12)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Neurosciences, Neurodegenerative, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alleles, Animals, Ataxia, Cells, Cultured, Child, Cohort Studies, DNA Mutational Analysis, Drosophila melanogaster, Epilepsy, Family Health, Female, Fibroblasts, Hearing Loss, Humans, Ketoglutarate Dehydrogenase Complex, Male, Mutation, Neurodevelopmental Disorders, RNA Splicing, Vision Disorders, SYNaPS Study Group, University of Washington Center for Mendelian Genomics, CRISPR-Cas9 gene editing, DEE, Drosophila, OGDHL, bi-allelic, developmental and epileptic encephalopathy, exome sequencing, mitochondria, neurodevelopmental disease, α-ketoglutarate, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6480d7ncTest

المؤلفون: Zambon, Alberto A., Ghezzi, Daniele, Baldoli, Cristina, Cutillo, Gianni, Fontana, Katia, Sofia, Valentina, Patricelli, Maria Grazia, Nasca, Alessia, Vinci, Stefano, Spiga, Ivana, Lamantea, Eleonora, Fanelli, Giovanna F., Sora, Maria Grazia Natali, Rovelli, Rosanna, Poloniato, Antonella, Carrera, Paola, Filippi, Massimo, Barera, Graziano

المصدر: Annals of Clinical and Translational Neurology ; volume 10, issue 10, page 1844-1853 ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.51876Test

المؤلفون: Nasca, Alessia, Mencacci, Niccolò E, Invernizzi, Federica, Zech, Michael, Keller Sarmiento, Ignacio J, Legati, Andrea, Frascarelli, Chiara, Bustos, Bernabe I, Romito, Luigi M, Krainc, Dimitri, Winkelmann, Juliane, Carecchio, Miryam, Nardocci, Nardo, Zorzi, Giovanna, Prokisch, Holger, Lubbe, Steven J, Garavaglia, Barbara, Ghezzi, Daniele

المساهمون: A. Nasca, N.E. Mencacci, F. Invernizzi, M. Zech, I.J. Keller Sarmiento, A. Legati, C. Frascarelli, B.I. Busto, L.M. Romito, D. Krainc, J. Winkelmann, M. Carecchio, N. Nardocci, G. Zorzi, H. Prokisch, S.J. Lubbe, B. Garavaglia, D. Ghezzi

مصطلحات موضوعية: ATP5F1B, case report, dystonia, incomplete penetrance, mitochondrial ATP synthase, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36860166; info:eu-repo/semantics/altIdentifier/wos/WOS:000959358500001; volume:146; issue:7; firstpage:2730; lastpage:2738; numberofpages:9; journal:BRAIN; https://hdl.handle.net/2434/993815Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164235279

الإتاحة: https://doi.org/10.1093/brain/awad068Test
https://hdl.handle.net/2434/993815Test

المؤلفون: Frascarelli, Chiara, Zanetti, Nadia, Nasca, Alessia, Izzo, Rossella, Lamperti, Costanza, Lamantea, Eleonora, Legati, Andrea, Ghezzi, Daniele

المساهمون: Fondazione Pierfranco e Luisa Mariani, Ministero della Salute

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

الإتاحة: https://doi.org/10.3389/fgene.2023.1089956Test

المؤلفون: Cavestro, Chiara, Morra, Francesca, Legati, Andrea, D'Amato, Marco, Nasca, Alessia, Iuso, Arcangela, Lubarr, Naomi, Morrison, Jennifer L., Wheeler, Patricia G., Serra‐Juhé, Clara, Rodríguez‐Santiago, Benjamín, Turón‐Viñas, Eulalia, Prouteau, Clement, Barth, Magalie, Hayflick, Susan J., Ghezzi, Daniele, Tiranti, Valeria, Di Meo, Ivano

المصدر: Annals of Clinical & Translational Neurology; Jun2024, Vol. 11 Issue 6, p1615-1629, 15p

مصطلحات موضوعية: PHENOTYPES, EPILEPSY, CELL communication, COENZYME A, AUTISM spectrum disorders, TRANSCRIPTOMES

المؤلفون: Torraco, Alessandra, Nasca, Alessia, Verrigni, Daniela, Pennisi, Alessandra, Zaki, Maha S, Olivieri, Giorgia, Assouline, Zahra, Martinelli, Diego, Maroofian, Reza, Rizza, Teresa, Di Nottia, Michela, Invernizzi, Federica, Lamantea, Eleonora, Longo, Daniela, Houlden, Henry, Prokisch, Holger, Rötig, Agnès, Dionisi-Vici, Carlo, Bertini, Enrico, Ghezzi, Daniele, Carrozzo, Rosalba, Diodato, Daria

المصدر: Human Mutation , 42 (6) pp. 699-710. (2021)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Leigh syndrome, mitochondrial disease, NADH ubiquinone oxidoreductase, NDUFA12

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10148272/1/humu.24195.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10148272Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10148272/1/humu.24195.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10148272Test/

المؤلفون: Cavestro, Chiara, Panteghini, Celeste, Reale, Chiara, Nasca, Alessia, Fenu, Silvia, Salsano, Ettore, Chiapparini, Luisa, Garavaglia, Barbara, Pareyson, Davide, Di Meo, Ivano, Tiranti, Valeria

المصدر: neurogenetics ; volume 22, issue 4, page 347-351 ; ISSN 1364-6745 1364-6753

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s10048-021-00667-0Test

المؤلفون: Invernizzi, Federica, Legati, Andrea, Nasca, Alessia, Lamantea, Eleonora, Garavaglia, Barbara, Gusic, Mirjana, Kopajtich, Robert, Prokisch, Holger, Zeviani, Massimo, Lamperti, Costanza, Ghezzi, Daniele

المساهمون: BMBF, Italian MoH, Horizon 2020, European Joint Programme on Rare Diseases, ERA PerMed project PerMiM, German Network for Mitochondrial Disorders, Center for the Study of Mitochondrial Pediatric Diseases funded, Luisa Mariani Foundation

المصدر: Brain ; volume 144, issue 9, page e74-e74 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awab238Test
http://academic.oup.com/brain/article-pdf/144/9/e74/40880444/awab238.pdfTest

المؤلفون: Legati, Andrea, Zanetti, Nadia, Nasca, Alessia, Peron, Camille, Lamperti, Costanza, Lamantea, Eleonora, Ghezzi, Daniele

المساهمون: European Commission, Ministero della Salute, Fondazione Pierfranco e Luisa Mariani

المصدر: The Journal of Molecular Diagnostics ; volume 23, issue 6, page 732-741 ; ISSN 1525-1578

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.jmoldx.2021.03.002Test
https://api.elsevier.com/content/article/PII:S1525157821000660?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157821000660?httpAccept=text/plainTest

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