QUARTARARO, Jade
QUARTARARO, Jade
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
2015-01-01 Ardissone, Anna; Lamantea, Eleonora; Quartararo, Jade; Dallabona, Cristina; Carrara, Franco; Moroni, Isabella; Donnini, Claudia; Garavaglia, Barbara; Zeviani, Massimo; Uziel, Graziella
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
2014-01-01 Boczonadi, Veronika; Müller, Juliane S; Pyle, Angela; Munkley, Jennifer; Dor, Talya; Quartararo, Jade; FERRERO FORTUNATI, Iliana; Karcagi, Veronika; Giunta, Michele; Polvikoski, Tuomo; Birchall, Daniel; Princzinger, Agota; Cinnamon, Yuval; Lützkendorf, Susanne; Piko, Henriett; Reza, Mojgan; Florez, Laura; Santibanez Koref, Mauro; Griffin, Helen; Schuelke, Markus; Elpeleg, Orly; Kalaydjieva, Luba; Lochmüller, Hanns; Elliott, David J; Chinnery, Patrick F; Edvardson, Shimon; Horvath, Rita
Non-canonical termination signal recognition by RNA polymerase III in the human genome
2011-01-01 Orioli, Andrea; Pascali, Chiara; Quartararo, Jade; K. W., Diebel; V., Praz; D., Romascano; Percudani, Riccardo; L. F., van Dyk; N., Hernandez; M., Teichmann; Dieci, Giorgio
Structural deciphering of the NG2/CSPG4 proteoglycan multifunctionality.
2019-01-01 :tamburini, E; Dallatomasina, A; Quartararo, J; Cortelazzi, B; Mangieri, D; Lazzaretti, M; Perris, R
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
2013-01-01 A., Indrieri; I., Conte; G., Chesi; A., Romano; Quartararo, Jade; R., Tatè; D., Ghezzi; M., Zeviani; Goffrini, Paola; FERRERO FORTUNATI, Iliana; P., Bovolenta; B., Franco
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene
2024-01-01 Marzollo, A.; Zampieri, S.; Barozzi, S.; Yousaf, M. A.; Quartararo, J.; Derocco, D.; Faleschini, M.; Marconi, C.; Ceccatelli Berti, C.; Bozzi, V.; Russo, G.; Giordano, P.; Goffrini, P.; Bresolin, S.; Pastore, A.; Savoia, A.; Pecci, A.
Widespread occurrence of non-canonical transcription termination by human RNA polymerase III
2011-01-01 A., Orioli; C., Pascali; Quartararo, Jade; K. W., Diebel; V., Praz; D., Romascano; Percudani, Riccardo; L. F., van Dyk; N., Hernandez; M., Teichmann; Dieci, Giorgio
Yeast as a model of mitochondrial dysfunctions: neurodegenerative diseases and cancer.
2010-01-01 Donnini, Claudia; Baruffini, Enrico; Dallabona, Cristina; Meloni, Francesca; Panizza, Elena; Quartararo, Jade; Tigano, Marco; Goffrini, Paola; Lodi, Tiziana; FERRERO FORTUNATI, Iliana
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature | 1-gen-2015 | Ardissone, Anna; Lamantea, Eleonora; Quartararo, Jade; Dallabona, Cristina; Carrara, Franco; Moroni, Isabella; Donnini, Claudia; Garavaglia, Barbara; Zeviani, Massimo; Uziel, Graziella | |
| EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia | 1-gen-2014 | Boczonadi, Veronika; Müller, Juliane S; Pyle, Angela; Munkley, Jennifer; Dor, Talya; Quartararo, Jade; FERRERO FORTUNATI, Iliana; Karcagi, Veronika; Giunta, Michele; Polvikoski, Tuomo; Birchall, Daniel; Princzinger, Agota; Cinnamon, Yuval; Lützkendorf, Susanne; Piko, Henriett; Reza, Mojgan; Florez, Laura; Santibanez Koref, Mauro; Griffin, Helen; Schuelke, Markus; Elpeleg, Orly; Kalaydjieva, Luba; Lochmüller, Hanns; Elliott, David J; Chinnery, Patrick F; Edvardson, Shimon; Horvath, Rita | |
| Non-canonical termination signal recognition by RNA polymerase III in the human genome | 1-gen-2011 | Orioli, Andrea; Pascali, Chiara; Quartararo, Jade; K. W., Diebel; V., Praz; D., Romascano; Percudani, Riccardo; L. F., van Dyk; N., Hernandez; M., Teichmann; Dieci, Giorgio | |
| Structural deciphering of the NG2/CSPG4 proteoglycan multifunctionality. | 1-gen-2019 | :tamburini, E; Dallatomasina, A; Quartararo, J; Cortelazzi, B; Mangieri, D; Lazzaretti, M; Perris, R | |
| The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. | 1-gen-2013 | A., Indrieri; I., Conte; G., Chesi; A., Romano; Quartararo, Jade; R., Tatè; D., Ghezzi; M., Zeviani; Goffrini, Paola; FERRERO FORTUNATI, Iliana; P., Bovolenta; B., Franco | |
| Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene | 1-gen-2024 | Marzollo, A.; Zampieri, S.; Barozzi, S.; Yousaf, M. A.; Quartararo, J.; Derocco, D.; Faleschini, M.; Marconi, C.; Ceccatelli Berti, C.; Bozzi, V.; Russo, G.; Giordano, P.; Goffrini, P.; Bresolin, S.; Pastore, A.; Savoia, A.; Pecci, A. | |
| Widespread occurrence of non-canonical transcription termination by human RNA polymerase III | 1-gen-2011 | A., Orioli; C., Pascali; Quartararo, Jade; K. W., Diebel; V., Praz; D., Romascano; Percudani, Riccardo; L. F., van Dyk; N., Hernandez; M., Teichmann; Dieci, Giorgio | |
| Yeast as a model of mitochondrial dysfunctions: neurodegenerative diseases and cancer. | 1-gen-2010 | Donnini, Claudia; Baruffini, Enrico; Dallabona, Cristina; Meloni, Francesca; Panizza, Elena; Quartararo, Jade; Tigano, Marco; Goffrini, Paola; Lodi, Tiziana; FERRERO FORTUNATI, Iliana |