Rosalba Carrozzo

ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 24

Top Venues

International journal of molecular sciences

Human mutation

Nature metabolism

Annals of clinical and translational neurology

Ospedale Pediatrico Bambino Gesù

Università degli Studi di Roma Tor Vergata (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Ospedale Pediatrico Bambino Gesù

Italy

Research Assistant, Head of the Cell Biology Section/Biologist :: Neurosciences

Education History

Università degli Studi di Roma Tor Vergata

Italy

PHD

Università degli Studi di Padova

Italy

BSC

Publications

Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 25 (14) (2024)
Francesca Nardecchia, Rosalba Carrozzo, Alice Innocenti, Alessandra Torraco, Valerio Zaccaria, Teresa Rizza, Francesco Pisani, Enrico Bertini, Vincenzo Leuzzi
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome. Annals of clinical and translational neurology 11 (3) (2024)
Francesca Nardecchia, Rosalba Carrozzo, Alice Innocenti, Alessandra Torraco, Valerio Zaccaria, Teresa Rizza, Francesco Pisani, Enrico Bertini, Vincenzo Leuzzi
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome. Annals of clinical and translational neurology 11 (3) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Francesca Nardecchia, Rosalba Carrozzo, Alice Innocenti, Alessandra Torraco, Valerio Zaccaria, Teresa Rizza, Francesco Pisani, Enrico Bertini, Vincenzo Leuzzi
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome. Annals of clinical and translational neurology (2024)
Francesca Nardecchia, Rosalba Carrozzo, Alice Innocenti, Alessandra Torraco, Valerio Zaccaria, Teresa Rizza, Francesco Pisani, Enrico Bertini, Vincenzo Leuzzi
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome. Annals of clinical and translational neurology 11 (3) (2024)
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 25 (14) (2024)
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 25 (14) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Andrew Y Sung, Rachel M Guerra, Laura H Steenberge, Charlotte L Alston, Kei Murayama, Yasushi Okazaki, Masaru Shimura, Holger Prokisch, Daniele Ghezzi, Alessandra Torraco, Rosalba Carrozzo, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Jessica Marinaccio, Emanuela Micheli, Ion Udroiu, Michela Di Nottia, Rosalba Carrozzo, Nicolò Baranzini, Annalisa Grimaldi, Stefano Leone, Sandra Moreno, Maurizio Muzzi, Antonella Sgura
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection. International journal of molecular sciences 24 (5) (2023)
Jessica Marinaccio, Emanuela Micheli, Ion Udroiu, Michela Di Nottia, Rosalba Carrozzo, Nicolò Baranzini, Annalisa Grimaldi, Stefano Leone, Sandra Moreno, Maurizio Muzzi, Antonella Sgura
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection. International journal of molecular sciences 24 (5) (2023)
Jessica Marinaccio, Emanuela Micheli, Ion Udroiu, Michela Di Nottia, Rosalba Carrozzo, Nicolò Baranzini, Annalisa Grimaldi, Stefano Leone, Sandra Moreno, Maurizio Muzzi, Antonella Sgura
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection. International journal of molecular sciences 24 (5) (2023)
Beatrice Rivalta, Alessandra Torraco, Diego Martinelli, Matteo Luciani, Rosalba Carrozzo, Andrea Finocchi
Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 33 (5) (2022)
Manuela Priolo, Valentina Palermo, Francesca Aiello, Andrea Ciolfi, Luca Pannone, Valentina Muto, Marialetizia Motta, Cecilia Mancini, Francesca Clementina Radio, Marcello Niceta, Chiara Leoni, Letizia Pintomalli, Rosalba Carrozzo, Giuseppe Rajola, Corrado Mammì, Giuseppe Zampino, Simone Martinelli, Bruno Dallapiccola, Pietro Pichierri, Tartaglia Marco
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction. Clinical genetics 102 (1) (2022)
Alessandra Torraco, Silvia Morlino, Teresa Rizza, Michela Di Nottia, Giorgia Bottaro, Luigi Bisceglia, Arianna Montanari, Marco Cappa, Marco Castori, Enrico Bertini, Rosalba Carrozzo
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature. Clinical genetics 102 (1) (2022)
Giovanna Carpentieri, Chiara Leoni, Donatella Pietraforte, Serena Cecchetti, Egidio Iorio, Antonio Belardo, Daniele Pietrucci, Michela Di Nottia, Deborah Pajalunga, Francesca Megiorni, Laura Mercurio, Massimo Tatti, Simona Camero, Cinzia Marchese, Teresa Rizza, Valentina Tirelli, Roberta Onesimo, Rosalba Carrozzo, Sara Rinalducci, Giovanni Chillemi, Giuseppe Zampino, Tartaglia Marco, Elisabetta Flex
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species. Human molecular genetics (2021)
Sarah Jane Beecroft, Marcos Ayala, George McGillivray, Vikas Nanda, Emanuele Agolini, Antonio Novelli, Maria C Digilio, Andrea Dotta, Rosalba Carrozzo, Joshua Clayton, Lydia Gaffney, Catriona A McLean, Jessica Ng, Nigel G Laing, Paul Matteson, James Millonig, Gianina Ravenscroft
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. Human mutation 42 (5) (2021)
Alessandra Torraco, Alessia Nasca, Daniela Verrigni, Alessandra Pennisi, Maha S Zaki, Giorgia Olivieri, Zahra Assouline, Diego Martinelli, Reza Maroofian, Teresa Rizza, Michela Di Nottia, Federica Invernizzi, Eleonora Lamantea, Daniela Longo, Henry Houlden, Holger Prokisch, Agnès Rötig, Carlo Dionisi-Vici, Enrico Silvio Bertini, Daniele Ghezzi, Rosalba Carrozzo, Nazzareno Diodato
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Human mutation 42 (6) (2021)
Alessandra Torraco, Reza Maroofian, Agnès Rötig, Enrico Silvio Bertini, Daniele Ghezzi, Rosalba Carrozzo, Nazzareno Diodato
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal. Human mutation (2021)
Daniela Verrigni, Michela Di Nottia, Anna Ardissone, Enrico Baruffini, Alessia Nasca, Andrea Legati, Emanuele Bellacchio, Gigliola Fagiolari, Diego Martinelli, Lucia Fusco, Domenica Battaglia, Giulia Trani, Gianmarco Versienti, Silvia Marchet, Alessandra Torraco, Teresa Rizza, Margherita Verardo, Adele D'Amico, Nazzareno Diodato, Isabella Moroni, Costanza Lamperti, Stefania Petrini, Maurizio Moggio, Paola Goffrini, Daniele Ghezzi, Rosalba Carrozzo, Enrico Silvio Bertini
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy. Human mutation 40 (5) (2019)
Makenzie Saoura, Christopher A Powell, Robert Kopajtich, Ahmad Alahmad, Haya H Al-Balool, Buthaina Albash, Majid Alfadhel, Charlotte L Alston, Enrico Silvio Bertini, Penelope E Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria A Donati, Michela Di Nottia, Daniele Ghezzi, Amy Goldstein, Eric Haan, Rita Horvath, Joanne Hughes, Federica Invernizzi, Eleonora Lamantea, Benjamin Lucas, Kyla-Gaye Pinnock, Maria Pujantell, Shamima Rahman, Pedro Rebelo-Guiomar, Saikat Santra, Daniela Verrigni, Robert McFarland, Holger Prokisch, Robert W Taylor, Louis Levinger, Michal Minczuk
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Human mutation 40 (10) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Rosalba Carrozzo