DALLABONA, Cristina
DALLABONA, Cristina
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale
Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
2021-01-01 Stellingwerff, Menno D.; Figuccia, Sonia; Bellacchio, Emanuele; Alvarez, Karin; Castiglioni, Claudia; Topaloglu, Pinar; Stutterd, Chloe A.; Erasmus, Corrie E.; Sanchez‐valle, Amarilis; Lebon, Sebastien; Hughes, Sarah; Schmitt-Mechelke, Thomas; Vasco, Gessica; Chow, Gabriel; Rahikkala, Elisa; Dallabona, Cristina; Okuma, Cecilia; Aiello, Chiara; Goffrini, Paola; Abbink, Truus E. M.; Bertini, Enrico S.; Van der Knaap, Marjo S.
Characterization of the Saccharomyces cerevisiae SYM1 gene, ortholog of the human desease gene MPV17
2007-01-01 Dallabona, Cristina; Marsano, Rene' Massimiliano; Donnini, Claudia
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy
2017-01-01 Sommerville, Ew; Ng, Ys; Alston, Cl; Dallabona, Cristina; Gilberti, Micol; He, L; Knowles, C; Chin, Sl; Schaefer, Am; Falkous, G; Murdoch, D; Longman, C; de Visser, M; Bindoff, La; Rawles, Jm; Dean, Jc; Petty, Rk; Farrugia, Me; Haack, Tb; Prokisch, H; Mcfarland, R; Turnbull, Dm; Donnini, Claudia; Taylor, Rw; Gorman, Gs
DEFECTIVE MITOCHONDRIAL rRNA METHYLTRANSFERASE (MRM2) CAUSES A MELAS-LIKE SYNDROME
2017-01-01 Garone, Caterina; D’Souza, Aaron R.; Dallabona, Cristina; Lodi, Tiziana; Rebelo Guiomar, Pedro; Donati, Maria Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah; Mootha, Vamsi; Dimauro, Salvatore; Ferrero, Ileana; Minczuk, Michal .
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
2017-01-01 Garone, C; D'Souza, Ar; Dallabona, C; Lodi, T; Rebelo-Guiomar, P; Rorbach, J; Donati, Ma; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; Calvo, Se; Mootha, Vk; Dimauro, S; Ferrero, I; Minczuk, M.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
2018-01-01 Garone, C; D'Souza, Ar; Dallabona, C; Lodi, T; Rebelo-Guiomar, P; Rorbach, J; Donati, A; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; Calvo, S; Mootha, V; Dimauro, S; Ferrero, I; Minczuk, M
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
2016-01-01 Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel; Fernandez Vizarra, Erika; Cerutti, Raffaele; Reyes, Aurelio; Preziuso, Carmela; D’Amati, Giulia; Baruffini, Enrico; Goffrini, Paola; Viscomi, Carlo; Ferrero, Ileana; Boman, Helge; Telstad, Wenche; Johansson, Stefan; Glaser, Elzbieta; Knappskog, Per M.; Zeviani, Massimo; Bindoff, Laurence A.
DNA polymerase [gamma] and disease: what we have learned from yeast
2015-01-01 Lodi, Tiziana; Dallabona, Cristina; Nolli, Cecilia; Goffrini, Paola; Donnini, Claudia; Baruffini, Enrico
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function
2017-01-01 Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana
Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions
2015-01-01 Tigano, Marco; Ruotolo, Roberta; Dallabona, Cristina; Fontanesi, Flavia; Barrientos, Antoni; Donnini, Claudia; Ottonello, Simone
Epigenetic alterations in prescription opioid misuse: New strategies for precision pain management
2021-01-01 Gerra, M. C.; Dallabona, C.; Arendt-Nielsen, L.
Erratum: Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number (American Journal of Human Genetics (2016) 99(4) (860–876) (S0002929716303391) (10.1016/j.ajhg.2016.08.014))
2016-01-01 Thompson, K.; Majd, H.; Dallabona, C.; Reinson, K.; King, M. S.; Alston, C. L.; He, L.; Lodi, T.; Jones, S. A.; Fattal-Valevski, A.; Fraenkel, N. D.; Saada, A.; Haham, A.; Isohanni, P.; Vara, R.; Barbosa, I. A.; Simpson, M. A.; Deshpande, C.; Puusepp, S.; Bonnen, P. E.; Rodenburg, R. J.; Suomalainen, A.; Ounap, K.; Elpeleg, O.; Ferrero, I.; Mcfarland, R.; Kunji, E. R. S.; Taylor, R. W.
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive externalophthalmoplegia in humans
2006-01-01 Baruffini, Enrico; Lodi, Tiziana; Dallabona, Cristina; A., Puglisi; M., Zeviani; FERRERO FORTUNATI, Iliana
Genetic, physiological and molecular characterization of MPV17/SYM1 mutations in S. cerevisiae
2014-01-01 Gilberti, Micol; Donnini, Claudia; Ferrero, Ileana; Dallabona, Cristina
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis and severe reduction of mitochondrial complex III activity.
2013-01-01 F., Invernizzi; M., Tigano; Dallabona, Cristina; Donnini, Claudia; I., Ferrero; M., Cremonte; D., Ghezzi; C., Lamperti; M., Zeviani
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model
2018-01-01 DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Pelosi, Federica; DI GREGORIO, Martina; Dallabona, Cristina; Claudia, Zanna; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration
2021-01-01 Hytonen, M. K.; Sarviaho, R.; Jackson, C. B.; Syrja, P.; Jokinen, T.; Matiasek, K.; Rosati, M.; Dallabona, C.; Baruffini, E.; Quintero, I.; Arumilli, M.; Monteuuis, G.; Donner, J.; Anttila, M.; Suomalainen, A.; Bindoff, L. A.; Lohi, H.
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
2016-01-01 Dallabona, Cristina; Abbink, Truus E. M.; Carrozzo, Rosalba; Torraco, Alessandra; Legati, Andrea; Berkel, Carola G. M. van; Niceta, Marcello; Langella, Tiziana; Verrigni, Daniela; Rizza, Teresa; Diodato, Daria; Piemonte, Fiorella; Lamantea, Eleonora; Fang, Mingyan; Zhang, Jianguo; Martinelli, Diego; Bevivino, Elsa; Dionisi Vici, Carlo; Vanderver, Adeline; Philip, Sunny G.; Kurian, Manju A.; Verma, Ishwar C.; Bijarnia Mahay, Sunita; Jacinto, Sandra; Furtado, Fatima; Accorsi, Patrizia; Ardissone, Anna; Moroni, Isabella; Ferrero, Ileana; Tartaglia, Marco; Goffrini, Paola; Ghezzi, Daniele; Knaap, Marjo S. van der; Bertini, Enrico
MITMED: A MULTICENTER CONSORTIUM FOR THE IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR GENES RESPONSIBLE FOR HUMAN MITOCHONDRIAL DISORDERS
2013-01-01 Ghezzi, Daniele; Melchionda, Laura; Diodato, Daria; Invernizzi, Federica; Lamantea, Eleonora; Ferrero, Ileana; Dallabona, Cristina; Baruffini, Enrico; Costa, Rodolfo; Da Re, Caterina; Zeviani, Massimo
Mitmed: a multicenter consortium for the identification and characterization of nuclear genes responsisble for human mitochondrial disorders
2015-01-01 Melchionda, Laura; Invernizzi, Federica; Nasca, Alessia; Diodato, Daria; Lamantea, Eleonora; Marchet, Silvia; Lamperti, Costanza; Baruffini, Enrico; Dallabona, Cristina; Donnini, Claudia; Goffrini, Paola; Lodi, Tiziana; Ferrero, Iliana; De Pittà, Cristiano; Da Re, Caterina; Corrà, Samantha; Zordan, Mauro; Costa, Rodolfo; Zeviani, Massimo; Ghezzi, Daniele
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations | 1-gen-2021 | Stellingwerff, Menno D.; Figuccia, Sonia; Bellacchio, Emanuele; Alvarez, Karin; Castiglioni, Claudia; Topaloglu, Pinar; Stutterd, Chloe A.; Erasmus, Corrie E.; Sanchez‐valle, Amarilis; Lebon, Sebastien; Hughes, Sarah; Schmitt-Mechelke, Thomas; Vasco, Gessica; Chow, Gabriel; Rahikkala, Elisa; Dallabona, Cristina; Okuma, Cecilia; Aiello, Chiara; Goffrini, Paola; Abbink, Truus E. M.; Bertini, Enrico S.; Van der Knaap, Marjo S. | |
| Characterization of the Saccharomyces cerevisiae SYM1 gene, ortholog of the human desease gene MPV17 | 1-gen-2007 | Dallabona, Cristina; Marsano, Rene' Massimiliano; Donnini, Claudia | |
| Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy | 1-gen-2017 | Sommerville, Ew; Ng, Ys; Alston, Cl; Dallabona, Cristina; Gilberti, Micol; He, L; Knowles, C; Chin, Sl; Schaefer, Am; Falkous, G; Murdoch, D; Longman, C; de Visser, M; Bindoff, La; Rawles, Jm; Dean, Jc; Petty, Rk; Farrugia, Me; Haack, Tb; Prokisch, H; Mcfarland, R; Turnbull, Dm; Donnini, Claudia; Taylor, Rw; Gorman, Gs | |
| DEFECTIVE MITOCHONDRIAL rRNA METHYLTRANSFERASE (MRM2) CAUSES A MELAS-LIKE SYNDROME | 1-gen-2017 | Garone, Caterina; D’Souza, Aaron R.; Dallabona, Cristina; Lodi, Tiziana; Rebelo Guiomar, Pedro; Donati, Maria Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah; Mootha, Vamsi; Dimauro, Salvatore; Ferrero, Ileana; Minczuk, Michal . | |
| Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome | 1-gen-2017 | Garone, C; D'Souza, Ar; Dallabona, C; Lodi, T; Rebelo-Guiomar, P; Rorbach, J; Donati, Ma; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; Calvo, Se; Mootha, Vk; Dimauro, S; Ferrero, I; Minczuk, M. | |
| Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome | 1-gen-2018 | Garone, C; D'Souza, Ar; Dallabona, C; Lodi, T; Rebelo-Guiomar, P; Rorbach, J; Donati, A; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; Calvo, S; Mootha, V; Dimauro, S; Ferrero, I; Minczuk, M | |
| Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration | 1-gen-2016 | Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel; Fernandez Vizarra, Erika; Cerutti, Raffaele; Reyes, Aurelio; Preziuso, Carmela; D’Amati, Giulia; Baruffini, Enrico; Goffrini, Paola; Viscomi, Carlo; Ferrero, Ileana; Boman, Helge; Telstad, Wenche; Johansson, Stefan; Glaser, Elzbieta; Knappskog, Per M.; Zeviani, Massimo; Bindoff, Laurence A. | |
| DNA polymerase [gamma] and disease: what we have learned from yeast | 1-gen-2015 | Lodi, Tiziana; Dallabona, Cristina; Nolli, Cecilia; Goffrini, Paola; Donnini, Claudia; Baruffini, Enrico | |
| Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function | 1-gen-2017 | Dallabona, Cristina; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana | |
| Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions | 1-gen-2015 | Tigano, Marco; Ruotolo, Roberta; Dallabona, Cristina; Fontanesi, Flavia; Barrientos, Antoni; Donnini, Claudia; Ottonello, Simone | |
| Epigenetic alterations in prescription opioid misuse: New strategies for precision pain management | 1-gen-2021 | Gerra, M. C.; Dallabona, C.; Arendt-Nielsen, L. | |
| Erratum: Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number (American Journal of Human Genetics (2016) 99(4) (860–876) (S0002929716303391) (10.1016/j.ajhg.2016.08.014)) | 1-gen-2016 | Thompson, K.; Majd, H.; Dallabona, C.; Reinson, K.; King, M. S.; Alston, C. L.; He, L.; Lodi, T.; Jones, S. A.; Fattal-Valevski, A.; Fraenkel, N. D.; Saada, A.; Haham, A.; Isohanni, P.; Vara, R.; Barbosa, I. A.; Simpson, M. A.; Deshpande, C.; Puusepp, S.; Bonnen, P. E.; Rodenburg, R. J.; Suomalainen, A.; Ounap, K.; Elpeleg, O.; Ferrero, I.; Mcfarland, R.; Kunji, E. R. S.; Taylor, R. W. | |
| Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive externalophthalmoplegia in humans | 1-gen-2006 | Baruffini, Enrico; Lodi, Tiziana; Dallabona, Cristina; A., Puglisi; M., Zeviani; FERRERO FORTUNATI, Iliana | |
| Genetic, physiological and molecular characterization of MPV17/SYM1 mutations in S. cerevisiae | 1-gen-2014 | Gilberti, Micol; Donnini, Claudia; Ferrero, Ileana; Dallabona, Cristina | |
| A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis and severe reduction of mitochondrial complex III activity. | 1-gen-2013 | F., Invernizzi; M., Tigano; Dallabona, Cristina; Donnini, Claudia; I., Ferrero; M., Cremonte; D., Ghezzi; C., Lamperti; M., Zeviani | |
| The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model | 1-gen-2018 | DI PUNZIO, Giulia; CECCATELLI BERTI, Camilla; Pelosi, Federica; DI GREGORIO, Martina; Dallabona, Cristina; Claudia, Zanna; Baruffini, Enrico; Goffrini, Paola; Lodi, Tiziana; Donnini, Claudia | |
| In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration | 1-gen-2021 | Hytonen, M. K.; Sarviaho, R.; Jackson, C. B.; Syrja, P.; Jokinen, T.; Matiasek, K.; Rosati, M.; Dallabona, C.; Baruffini, E.; Quintero, I.; Arumilli, M.; Monteuuis, G.; Donner, J.; Anttila, M.; Suomalainen, A.; Bindoff, L. A.; Lohi, H. | |
| LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. | 1-gen-2016 | Dallabona, Cristina; Abbink, Truus E. M.; Carrozzo, Rosalba; Torraco, Alessandra; Legati, Andrea; Berkel, Carola G. M. van; Niceta, Marcello; Langella, Tiziana; Verrigni, Daniela; Rizza, Teresa; Diodato, Daria; Piemonte, Fiorella; Lamantea, Eleonora; Fang, Mingyan; Zhang, Jianguo; Martinelli, Diego; Bevivino, Elsa; Dionisi Vici, Carlo; Vanderver, Adeline; Philip, Sunny G.; Kurian, Manju A.; Verma, Ishwar C.; Bijarnia Mahay, Sunita; Jacinto, Sandra; Furtado, Fatima; Accorsi, Patrizia; Ardissone, Anna; Moroni, Isabella; Ferrero, Ileana; Tartaglia, Marco; Goffrini, Paola; Ghezzi, Daniele; Knaap, Marjo S. van der; Bertini, Enrico | |
| MITMED: A MULTICENTER CONSORTIUM FOR THE IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR GENES RESPONSIBLE FOR HUMAN MITOCHONDRIAL DISORDERS | 1-gen-2013 | Ghezzi, Daniele; Melchionda, Laura; Diodato, Daria; Invernizzi, Federica; Lamantea, Eleonora; Ferrero, Ileana; Dallabona, Cristina; Baruffini, Enrico; Costa, Rodolfo; Da Re, Caterina; Zeviani, Massimo | |
| Mitmed: a multicenter consortium for the identification and characterization of nuclear genes responsisble for human mitochondrial disorders | 1-gen-2015 | Melchionda, Laura; Invernizzi, Federica; Nasca, Alessia; Diodato, Daria; Lamantea, Eleonora; Marchet, Silvia; Lamperti, Costanza; Baruffini, Enrico; Dallabona, Cristina; Donnini, Claudia; Goffrini, Paola; Lodi, Tiziana; Ferrero, Iliana; De Pittà, Cristiano; Da Re, Caterina; Corrà, Samantha; Zordan, Mauro; Costa, Rodolfo; Zeviani, Massimo; Ghezzi, Daniele |