Drug-utilisation profiles and COVID-19
Orlando, Valentina, Coscioni, Enrico, Guarino, Ilaria, Mucherino, Sara, Perrella, Alessandro, Trama, Ugo, Limongelli, Giuseppe, Menditto, Enrica
Published in Scientific reports (26.04.2021)
Published in Scientific reports (26.04.2021)
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Journal Article
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes
Mazzaccara, Cristina, Mirra, Bruno, Barretta, Ferdinando, Caiazza, Martina, Lombardo, Barbara, Scudiero, Olga, Tinto, Nadia, Limongelli, Giuseppe, Frisso, Giulia
Published in International journal of molecular sciences (27.05.2021)
Published in International journal of molecular sciences (27.05.2021)
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Journal Article
Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies
Monda, Emanuele, Palmiero, Giuseppe, Rubino, Marta, Verrillo, Federica, Amodio, Federica, Di Fraia, Francesco, Pacileo, Roberta, Fimiani, Fabio, Esposito, Augusto, Cirillo, Annapaola, Fusco, Adelaide, Moscarella, Elisabetta, Frisso, Giulia, Russo, Maria Giovanna, Pacileo, Giuseppe, Calabrò, Paolo, Scudiero, Olga, Caiazza, Martina, Limongelli, Giuseppe
Published in International journal of molecular sciences (04.09.2020)
Published in International journal of molecular sciences (04.09.2020)
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Journal Article
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro, Giovanni, Zizzo, Carmela, Cammarata, Giuseppe, Burlina, Alessandro, Burlina, Alberto, Polo, Giulia, Scalia, Simone, Oliveri, Roberta, Sciarrino, Serafina, Francofonte, Daniele, Alessandro, Riccardo, Pisani, Antonio, Palladino, Giuseppe, Napoletano, Rosa, Tenuta, Maurizio, Masarone, Daniele, Limongelli, Giuseppe, Riccio, Eleonora, Frustaci, Andrea, Chimenti, Cristina, Ferri, Claudio, Pieruzzi, Federico, Pieroni, Maurizio, Spada, Marco, Castana, Cinzia, Caserta, Marina, Monte, Ines, Rodolico, Margherita Stefania, Feriozzi, Sandro, Battaglia, Yuri, Amico, Luisa, Losi, Maria Angela, Autore, Camillo, Lombardi, Marco, Zoccali, Carmine, Testa, Alessandra, Postorino, Maurizio, Mignani, Renzo, Zachara, Elisabetta, Giordano, Antonello, Colomba, Paolo
Published in International journal of molecular sciences (23.11.2018)
Published in International journal of molecular sciences (23.11.2018)
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Journal Article
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review
Santoro, Claudia, Mirone, Giuseppe, Zanobio, Mariateresa, Ranucci, Giusy, D’Amico, Alessandra, Cicala, Domenico, Iascone, Maria, Bernardo, Pia, Piccolo, Vincenzo, Ronchi, Andrea, Limongelli, Giuseppe, Carotenuto, Marco, Nigro, Vincenzo, Cinalli, Giuseppe, Piluso, Giulio
Published in International journal of molecular sciences (11.08.2022)
Published in International journal of molecular sciences (11.08.2022)
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Journal Article
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes
Monda, Emanuele, Lioncino, Michele, Caiazza, Martina, Simonelli, Vincenzo, Nesti, Claudia, Rubino, Marta, Perna, Alessia, Mauriello, Alfredo, Budillon, Alberta, Pota, Vincenzo, Bruno, Giorgia, Varone, Antonio, Nigro, Vincenzo, Santorelli, Filippo Maria, Pacileo, Giuseppe, Russo, Maria Giovanna, Frisso, Giulia, Sampaolo, Simone, Limongelli, Giuseppe
Published in International journal of molecular sciences (22.05.2023)
Published in International journal of molecular sciences (22.05.2023)
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Journal Article
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome
Onore, Maria Elena, Caiazza, Martina, Farina, Antonella, Scarano, Gioacchino, Budillon, Alberto, Borrelli, Rossella Nicoletta, Limongelli, Giuseppe, Nigro, Vincenzo, Piluso, Giulio
Published in Genes (01.01.2024)
Published in Genes (01.01.2024)
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Journal Article
Imaging the "Hot Phase" of a Familiar Left-Dominant Arrhythmogenic Cardiomyopathy
Rubino, Marta, Scatteia, Alessandra, Frisso, Giulia, Pacileo, Giuseppe, Caiazza, Martina, Pascale, Carmine Emanuele, Guarini, Pasquale, Limongelli, Giuseppe, Dellegrottaglie, Santo
Published in Genes (30.11.2021)
Published in Genes (30.11.2021)
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Journal Article
RAF1 mutations in childhood-onset dilated cardiomyopathy
Dhandapany, Perundurai S, Razzaque, Md Abdur, Muthusami, Uthiralingam, Kunnoth, Sreejith, Edwards, Jonathan J, Mulero-Navarro, Sonia, Riess, Ilan, Pardo, Sherly, Sheng, Jipo, Rani, Deepa Selvi, Rani, Bindu, Govindaraj, Periyasamy, Flex, Elisabetta, Yokota, Tomohiro, Furutani, Michiko, Nishizawa, Tsutomu, Nakanishi, Toshio, Robbins, Jeffrey, Limongelli, Giuseppe, Hajjar, Roger J, Lebeche, Djamel, Bahl, Ajay, Khullar, Madhu, Rathinavel, Andiappan, Sadler, Kirsten C, Tartaglia, Marco, Matsuoka, Rumiko, Thangaraj, Kumarasamy, Gelb, Bruce D
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Journal Article
Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation
Lioncino, Michele, Fusco, Adelaide, Monda, Emanuele, Colonna, Diego, Sibilio, Michelina, Caiazza, Martina, Magri, Daniela, Borrelli, Angela Carla, D’Onofrio, Barbara, Mazzella, Maria Luisa, Colantuono, Rossella, Arienzo, Maria Rosaria, Sarubbi, Berardo, Russo, Maria Giovanna, Chello, Giovanni, Limongelli, Giuseppe
Published in Genes (01.08.2022)
Published in Genes (01.08.2022)
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Journal Article
Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy
Caiazza, Martina, Rubino, Marta, Monda, Emanuele, Passariello, Annalisa, Fusco, Adelaide, Cirillo, Annapaola, Esposito, Augusto, Pierno, Anna, De Fazio, Federica, Pacileo, Roberta, Evangelista, Eloisa, Pacileo, Giuseppe, Russo, Maria Giovanna, Limongelli, Giuseppe
Published in Genes (01.08.2020)
Published in Genes (01.08.2020)
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Journal Article
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies
Frisso, Giulia, Detta, Nicola, Coppola, Pamela, Mazzaccara, Cristina, Pricolo, Maria Rosaria, D'Onofrio, Antonio, Limongelli, Giuseppe, Calabrò, Raffaele, Salvatore, Francesco
Published in International journal of molecular sciences (01.11.2016)
Published in International journal of molecular sciences (01.11.2016)
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Journal Article
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Martina, D'Amico, Alessandra, Lonardo, Fortunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino
Published in Genes (14.07.2023)
Published in Genes (14.07.2023)
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Journal Article
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders
Giugliano, Teresa, Santoro, Claudia, Torella, Annalaura, Del Vecchio Blanco, Francesca, Grandone, Anna, Onore, Maria Elena, Melone, Mariarosa Anna Beatrice, Straccia, Giulia, Melis, Daniela, Piccolo, Vincenzo, Limongelli, Giuseppe, Buono, Salvatore, Perrotta, Silverio, Nigro, Vincenzo, Piluso, Giulio
Published in Genes (31.07.2019)
Published in Genes (31.07.2019)
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Journal Article
Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk
Limongelli, Giuseppe, Nunziato, Marcella, Mazzaccara, Cristina, Intrieri, Mariano, DArgenio, Valeria, Esposito, Maria Valeria, Monda, Emanuele, Maggio, Federica Di, Frisso, Giulia, Salvatore, Francesco
Published in Genes (08.05.2020)
Published in Genes (08.05.2020)
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Journal Article
Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease
Testori, Alessandro, Lasorsa, Vito A, Cimmino, Flora, Cantalupo, Sueva, Cardinale, Antonella, Avitabile, Marianna, Limongelli, Giuseppe, Russo, Maria Giovanna, Diskin, Sharon, Maris, John, Devoto, Marcella, Keavney, Bernard, Cordell, Heather J, Iolascon, Achille, Capasso, Mario
Published in Genes (30.08.2019)
Published in Genes (30.08.2019)
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Journal Article
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome
Limongelli, Giuseppe, Sarkozy, Anna, Pacileo, Giuseppe, Calabrò, Paolo, Digilio, Maria Cristina, Maddaloni, Valeria, Gagliardi, Giulia, Di Salvo, Giovanni, Iacomino, Maria, Marino, Bruno, Dallapiccola, Bruno, Calabrò, Raffaele
Published in American journal of medical genetics. Part A (01.03.2008)
Published in American journal of medical genetics. Part A (01.03.2008)
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Journal Article
Early cardiac mechanics abnormalities in patients with mitochondrial diseases
Lillo, Rosa, Meucci, Maria Chiara, Malara, Silvia, Primiano, Guido, Servidei, Serenella, Lombardo, Antonella, Grandinetti, Maria, Massetti, Massimo, Lanza, Gaetano Antonio, Limongelli, Giuseppe, Graziani, Francesca
Published in Mitochondrion (01.09.2024)
Published in Mitochondrion (01.09.2024)
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Journal Article
Resistive index of central retinal artery, aortic arterial stiffness and OCTA correlated parameters in the early stage of fabry disease
Rinaldi, Michele, Chiosi, Flavia, Passaro, Maria Laura, Natale, Francesco, Riccardo, Alessia, D’Andrea, Luca, Caiazza, Martina, Rubino, Marta, Monda, Emanuele, Cennamo, Gilda, Calabrò, Francesco, Limongelli, Giuseppe, Costagliola, Ciro
Published in Scientific reports (14.10.2024)
Published in Scientific reports (14.10.2024)
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Journal Article
The heart in RASopathies
Delogu, Angelica Bibiana, Limongelli, Giuseppe, Versacci, Paolo, Adorisio, Rachele, Kaski, Juan Pablo, Blandino, Rita, Maiolo, Stella, Monda, Emanuele, Putotto, Carolina, De Rosa, Gabriella, Chatfield, Kathryn C., Gelb, Bruce D., Calcagni, Giulio
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2022)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2022)
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Journal Article