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

par ERGOLI, MANUELA, VENDITTI, MASSIMO, DOTOLO, RAFFAELE, PICILLO, ESTHER, MINUCCI, SERGIO, POLITANO¹, LUISA
Publié dans 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

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

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

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

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

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

Novel mutations in LMNA A/C gene and associated phenotypes

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

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

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

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

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

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

par 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
Publié dans Acta Myol (2015)

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

par 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
Publié dans J Cell Mol Med (2018)

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

par 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
Publié dans Genes (Basel) (2018)

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

par 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
Publié dans JAMA Neurol (2018)

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

par 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
Publié dans Front Genet (2020)