Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results

por ERGOLI, MANUELA, VENDITTI, MASSIMO, DOTOLO, RAFFAELE, PICILLO, ESTHER, MINUCCI, SERGIO, POLITANO¹, LUISA
Publicado en Acta Myol (2017)

Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results

por PALLADINO, ALBERTO, PAPA, ANDREA A., MORRA, SALVATORE, RUSSO, VINCENZO, ERGOLI, MANUELA, RAGO, ANNA, ORSINI, CHIARA, NIGRO, GERARDO, POLITANO, LUISA
Publicado en Acta Myol (2019)

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

por Orsini, Chiara, Petillo, Roberta, D'Ambrosio, Paola, Ergoli, Manuela, Picillo, Esther, Scutifero, Marianna, Passamano, Luigia, De Luca, Alessandro, Politano, Luisa
Publicado en Front Neurol (2020)

X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

por Viggiano, Emanuela, Madej-Pilarczyk, Agnieszka, Carboni, Nicola, Picillo, Esther, Ergoli, Manuela, del Gaudio, Stefania, Marchel, Michal, Nigro, Gerardo, Palladino, Alberto, Politano, Luisa
Publicado en Genes (Basel) (2019)

Novel mutations in LMNA A/C gene and associated phenotypes

por Petillo, Roberta, D'Ambrosio, Paola, Torella, Annalaura, Taglia, Antonella, Picillo, Esther, Testori, Alessandro, Ergoli, Manuela, Nigro, Gerardo, Piluso, Giulio, Nigro, Vincenzo, Politano, Luisa
Publicado en Acta Myol (2015)

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

por Astrea, Guja, Pezzini, Ilaria, Picillo, Ester, Pasquariello, Rosa, Moro, Francesca, Ergoli, Manuela, D'Ambrosio, Paola, D'Amico, Adele, Politano, Luisa, Santorelli, Filippo Maria
Publicado en Neuromuscul Disord (2016)

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies

por D’AMBROSIO, PAOLA, PETILLO, ROBERTA, TORELLA, ANNALAURA, PAPA, ANDREA ANTONIO, PALLADINO, ALBERTO, ORSINI, CHIARA, ERGOLI, MANUELA, PASSAMANO, LUIGIA, NOVELLI, ANTONIO, NIGRO, VINCENZO, POLITANO, LUISA
Publicado en Acta Myol (2019)

Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene

por TAGLIA, ANTONELLA, PETILLO, ROBERTA, D'AMBROSIO, PAOLA, PICILLO, ESTHER, TORELLA, ANNALAURA, ORSINI, CHIARA, ERGOLI, MANUELA, SCUTIFERO, MARIANNA, PASSAMANO, LUIGIA, PALLADINO, ALBERTO, NIGRO, GERARDO, POLITANO, LUISA
Publicado en Acta Myol (2015)

Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy

por Spitali, Pietro, Hettne, Kristina, Tsonaka, Roula, Sabir, Ekrem, Seyer, Alexandre, Hemerik, Jesse B.A., Goeman, Jelle J., Picillo, Esther, Ergoli, Manuela, Politano, Luisa, Aartsma‐Rus, Annemieke
Publicado en J Cell Mol Med (2018)

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

por Giugliano, Teresa, Savarese, Marco, Garofalo, Arcomaria, Picillo, Esther, Fiorillo, Chiara, D’Amico, Adele, Maggi, Lorenzo, Ruggiero, Lucia, Vercelli, Liliana, Magri, Francesca, Fattori, Fabiana, Torella, Annalaura, Ergoli, Manuela, Rubegni, Anna, Fanin, Marina, Musumeci, Olimpia, Bleecker, Jan De, Peverelli, Lorenzo, Moggio, Maurizio, Mercuri, Eugenio, Toscano, Antonio, Mora, Marina, Santoro, Lucio, Mongini, Tiziana, Bertini, Enrico, Bruno, Claudio, Minetti, Carlo, Comi, Giacomo Pietro, Santorelli, Filippo Maria, Angelini, Corrado, Politano, Luisa, Piluso, Giulio, Nigro, Vincenzo
Publicado en Genes (Basel) (2018)

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

por Savarese, Marco, Maggi, Lorenzo, Vihola, Anna, Jonson, Per Harald, Tasca, Giorgio, Ruggiero, Lucia, Bello, Luca, Magri, Francesca, Giugliano, Teresa, Torella, Annalaura, Evilä, Anni, Di Fruscio, Giuseppina, Vanakker, Olivier, Gibertini, Sara, Vercelli, Liliana, Ruggieri, Alessandra, Antozzi, Carlo, Luque, Helena, Janssens, Sandra, Pasanisi, Maria Barbara, Fiorillo, Chiara, Raimondi, Monika, Ergoli, Manuela, Politano, Luisa, Bruno, Claudio, Rubegni, Anna, Pane, Marika, Santorelli, Filippo M., Minetti, Carlo, Angelini, Corrado, De Bleecker, Jan, Moggio, Maurizio, Mongini, Tiziana, Comi, Giacomo Pietro, Santoro, Lucio, Mercuri, Eugenio, Pegoraro, Elena, Mora, Marina, Hackman, Peter, Udd, Bjarne, Nigro, Vincenzo
Publicado en JAMA Neurol (2018)

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

por Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, Ferlini, Alessandra
Publicado en Front Genet (2020)