LIPARI, MARTINA
LIPARI, MARTINA
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review
2016 Bottillo, Irene; Giordano, Carla; Cerbelli, Bruna; D'Angelantonio, Daniela; Lipari, Martina; Polidori, Taisia; Majore, Silvia; Bertini, Enrico; D'Amico, Adele; Giannarelli, Diana; Bernardo, Carmelilia De; Masuelli, Laura; Musumeci, Francesco; Avella, Andrea; Re, Federica; Zachara, Elisabetta; D'Amati, Giulia; Grammatico, Paola
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects
2017 Gerbino, Andrea; Bottillo, Irene; Milano, Serena; Lipari, Martina; De Zio, Roberta; Morlino, Silvia; Mola, Maria Grazia; Procino, Giuseppe; Re, Federica; Zachara, Elisabetta; Grammatico, Paola; Svelto, Maria; Carmosino, Monica
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy
2020 Lipari, M.; Wypasek, E.; Karpinski, M.; Tomkiewicz-Pajak, L.; Laino, L.; Binni, F.; Giannarelli, D.; Rubis, P.; Petkow-Dimitrow, P.; Undas, A.; Grammatico, P.; Bottillo, I.
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
2015 Bottillo, Irene; D'Angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, C; Giannarelli, D; Pizzuti, Antonio; Majore, S; Castori, M; Zachara, E; Re, F; Grammatico, Paola
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy
2016 Bottillo, Irene; D'Angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, Carmelilia; Majore, Silvia; Castori, Marco; Zachara, Elisabetta; Re, Federica; Grammatico, Paola
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review | 2016 | Bottillo, Irene; Giordano, Carla; Cerbelli, Bruna; D'Angelantonio, Daniela; Lipari, Martina; Polidori, Taisia; Majore, Silvia; Bertini, Enrico; D'Amico, Adele; Giannarelli, Diana; Bernardo, Carmelilia De; Masuelli, Laura; Musumeci, Francesco; Avella, Andrea; Re, Federica; Zachara, Elisabetta; D'Amati, Giulia; Grammatico, Paola | |
| Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects | 2017 | Gerbino, Andrea; Bottillo, Irene; Milano, Serena; Lipari, Martina; De Zio, Roberta; Morlino, Silvia; Mola, Maria Grazia; Procino, Giuseppe; Re, Federica; Zachara, Elisabetta; Grammatico, Paola; Svelto, Maria; Carmosino, Monica | |
| Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy | 2020 | Lipari, M.; Wypasek, E.; Karpinski, M.; Tomkiewicz-Pajak, L.; Laino, L.; Binni, F.; Giannarelli, D.; Rubis, P.; Petkow-Dimitrow, P.; Undas, A.; Grammatico, P.; Bottillo, I. | |
| Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. | 2015 | Bottillo, Irene; D'Angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, C; Giannarelli, D; Pizzuti, Antonio; Majore, S; Castori, M; Zachara, E; Re, F; Grammatico, Paola | |
| Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy | 2016 | Bottillo, Irene; D'Angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, Carmelilia; Majore, Silvia; Castori, Marco; Zachara, Elisabetta; Re, Federica; Grammatico, Paola |