Early-stage triple negative breast cancer: the therapeutic role of immunotherapy and the prognostic value of pathological complete response von De Santis, Pierluigi, Perrone, Martina, Guarini, Chiara, Santoro, Anna Natalizia, Laface, Carmelo, Carrozzo, Daniela, Oliva, Gaia Rachele, Fedele, Palma

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Antibody-Drug Conjugates in HR+ Breast Cancer: Where Are We Now and Where Are We Heading? von De Santis, Pierluigi, Sanna, Valeria, Perrone, Martina, Guarini, Chiara, Santoro, Anna Natalizia, Laface, Carmelo, Carrozzo, Daniela, Oliva, Gaia Rachele, Fancellu, Alessandro, Fedele, Palma

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The Treatment Landscape of Elderly Patients with Hormone Receptor-Positive Her2 Negative Advanced Breast Cancer: Current Perspectives and Future Directions von Laface, Carmelo, Giuliani, Francesco, Melaccio, Assunta, Pappagallo, Maria Nicla, Santoro, Anna Natalizia, Perrone, Martina, De Santis, Pierluigi, Guarini, Chiara, Carrozzo, Daniela, Fedele, Palma

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De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting von Berti, Beatrice, Verrigni, Daniela, Nasca, Alessia, Di Nottia, Michela, Leone, Daniela, Torraco, Alessandra, Rizza, Teresa, Bellacchio, Emanuele, Legati, Andrea, Palermo, Concetta, Marchet, Silvia, Lamperti, Costanza, Novelli, Antonio, Mercuri, Eugenio Maria, Bertini, Enrico Silvio, Pane, Marika, Ghezzi, Daniele, Carrozzo, Rosalba

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A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly von Di Nottia, Michela, Marchese, Maria, Verrigni, Daniela, Mutti, Christian Daniel, Torraco, Alessandra, Oliva, Romina, Fernandez-Vizarra, Erika, Morani, Federica, Trani, Giulia, Rizza, Teresa, Ghezzi, Daniele, Ardissone, Anna, Nesti, Claudia, Vasco, Gessica, Zeviani, Massimo, Minczuk, Michal, Bertini, Enrico, Santorelli, Filippo Maria, Carrozzo, Rosalba

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Silencing of the mitochondrial ribosomal protein L-24 gene activates the oxidative stress response in Caenorhabditis elegans von Ficociello, Graziella, Schifano, Emily, Di Nottia, Michela, Torraco, Alessandra, Carrozzo, Rosalba, Uccelletti, Daniela, Montanari, Arianna

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A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease von Diodato, Daria, Tasca, Giorgio, Verrigni, Daniela, D'Amico, Adele, Rizza, Teresa, Tozzi, Giulia, Martinelli, Diego, Verardo, Margherita, Invernizzi, Federica, Nasca, Alessia, Bellacchio, Emanuele, Ghezzi, Daniele, Piemonte, Fiorella, Dionisi-Vici, Carlo, Carrozzo, Rosalba, Bertini, Enrico

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Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB von Maio, Nunziata, Ghezzi, Daniele, Verrigni, Daniela, Rizza, Teresa, Bertini, Enrico, Martinelli, Diego, Zeviani, Massimo, Singh, Anamika, Carrozzo, Rosalba, Rouault, Tracey A.

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A new simple and rapid LC–ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann–Pick type C dise... von Boenzi, Sara, Deodato, Federica, Taurisano, Roberta, Martinelli, Diego, Verrigni, Daniela, Carrozzo, Rosalba, Bertini, Enrico, Pastore, Anna, Dionisi-Vici, Carlo, Johnson, David W.

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Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study von Luca, Pasquini, Alessia, Guarnera, Camilla, Rossi-Espagnet Maria, Antonio, Napolitano, Diego, Martinelli, Federica, Deodato, Daria, Diodato, Rosalba, Carrozzo, Carlo, Dionisi-Vici, Daniela, Longo

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Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches von Di Nottia, Michela, Verrigni, Daniela, Torraco, Alessandra, Rizza, Teresa, Bertini, Enrico, Carrozzo, Rosalba

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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients von Carrozzo, Rosalba, Verrigni, Daniela, Rasmussen, Magnhild, de Coo, Rene, Amartino, Hernan, Bianchi, Marzia, Buhas, Daniela, Mesli, Samir, Naess, Karin, Born, Alfred Peter, Woldseth, Berit, Prontera, Paolo, Batbayli, Mustafa, Ravn, Kirstine, Joensen, Fróði, Cordelli, Duccio M., Santorelli, Filippo Maria, Tulinius, Mar, Darin, Niklas, Duno, Morten, Jouvencel, Philippe, Burlina, Alberto, Stangoni, Gabriela, Bertini, Enrico, Redonnet-Vernhet, Isabelle, Wibrand, Flemming, Dionisi-Vici, Carlo, Uusimaa, Johanna, Vieira, Paivi, Osorio, Andrés Nascimento, McFarland, Robert, Taylor, Robert W., Holme, Elisabeth, Ostergaard, Elsebet

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COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency von 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

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Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation von 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

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Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis von Catania, Alessia, Ardissone, Anna, Verrigni, Daniela, Legati, Andrea, Reyes, Aurelio, Lamantea, Eleonora, Diodato, Daria, Tonduti, Davide, Imperatore, Valentina, Pinto, Anna Maria, Moroni, Isabella, Bertini, Enrico, Robinson, Alan, Carrozzo, Rosalba, Zeviani, Massimo, Ghezzi, Daniele

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Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study von Pasquini, Luca, Guarnera, Alessia, Rossi-Espagnet, Maria Camilla, Napolitano, Antonio, Martinelli, Diego, Deodato, Federica, Diodato, Daria, Carrozzo, Rosalba, Dionisi-Vici, Carlo, Longo, Daniela

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Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy von Verrigni, Daniela, Di Nottia, Michela, Ardissone, Anna, Baruffini, Enrico, Nasca, Alessia, Legati, Andrea, Bellacchio, Emanuele, Fagiolari, Gigliola, Martinelli, Diego, Fusco, Lucia, Battaglia, Domenica, Trani, Giulia, Versienti, Gianmarco, Marchet, Silvia, Torraco, Alessandra, Rizza, Teresa, Verardo, Margherita, D'Amico, Adele, Diodato, Daria, Moroni, Isabella, Lamperti, Costanza, Petrini, Stefania, Moggio, Maurizio, Goffrini, Paola, Ghezzi, Daniele, Carrozzo, Rosalba, Bertini, Enrico

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Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration von Muto, Valentina, Flex, Elisabetta, Kupchinsky, Zachary, Primiano, Guido, Galehdari, Hamid, Dehghani, Mohammadreza, Cecchetti, Serena, Carpentieri, Giovanna, Rizza, Teresa, Mazaheri, Neda, Sedaghat, Alireza, Vahidi Mehrjardi, Mohammad Yahya, Traversa, Alice, Di Nottia, Michela, Kousi, Maria M, Jamshidi, Yalda, Ciolfi, Andrea, Caputo, Viviana, Malamiri, Reza Azizi, Pantaleoni, Francesca, Martinelli, Simone, Jeffries, Aaron R, Zeighami, Jawaher, Sherafat, Amir, Di Giuda, Daniela, Shariati, Gholam Reza, Carrozzo, Rosalba, Katsanis, Nicholas, Maroofian, Reza, Servidei, Serenella, Tartaglia, Marco

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Development of an in vitro liquid chromatography–mass spectrometry method to evaluate stereo and chemical stability of new drug candidates employing immobilized artificial membrane... von Cannazza, Giuseppe, Battisti, Umberto M., Carrozzo, Marina M., Cazzato, Addolorata S., Braghiroli, Daniela, Parenti, Carlo, Troisi, Luigino

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Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review von Castiglioni, Claudia, Verrigni, Daniela, Okuma, Cecilia, Diaz, Alejandra, Alvarez, Karin, Rizza, Teresa, Carrozzo, Rosalba, Bertini, Enrico, Miranda, Marcelo

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