Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy by Viggiano, Emanuela, Ergoli, Manuela, Picillo, Esther, Politano, Luisa

Get full text

Skewed X‐chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy by Viggiano, Emanuela, Picillo, Esther, Ergoli, Manuela, Cirillo, Alessandra, Del Gaudio, Stefania, Politano, Luisa

Get full text

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita by Orsini, Chiara, Petillo, Roberta, D'Ambrosio, Paola, Ergoli, Manuela, Picillo, Esther, Scutifero, Marianna, Passamano, Luigia, De Luca, Alessandro, Politano, Luisa

Get full text

Study of expression of genes potentially responsible for reduced fitness in patients with myotonic dystrophy type 1 and identification of new biomarkers of testicular function by Ergoli, Manuela, Venditti, Massimo, Picillo, Esther, Minucci, Sergio, Politano, Luisa

Get full text

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

Get full text

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease by Savarese, Marco, Torella, Annalaura, Musumeci, Olimpia, Angelini, Corrado, Astrea, Guja, Bello, Luca, Bruno, Claudio, Comi, Giacomo Pietro, Di Fruscio, Giuseppina, Piluso, Giulio, Di Iorio, Giuseppe, Ergoli, Manuela, Esposito, Gaia, Fanin, Marina, Farina, Olimpia, Fiorillo, Chiara, Garofalo, Arcomaria, Giugliano, Teresa, Magri, Francesca, Minetti, Carlo, Moggio, Maurizio, Passamano, Luigia, Pegoraro, Elena, Picillo, Ester, Sampaolo, Simone, Santorelli, Filippo Maria, Semplicini, Claudio, Udd, Bjarne, Toscano, Antonio, Politano, Luisa, Nigro, Vincenzo

Get full text

X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers by Viggiano, Emanuela, Madej-Pilarczyk, Agnieszka, Carboni, Nicola, Picillo, Esther, Ergoli, Manuela, Gaudio, Stefania Del, Marchel, Michal, Nigro, Gerardo, Palladino, Alberto, Politano, Luisa

Get full text

Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results by ERGOLI, MANUELA, VENDITTI, MASSIMO, DOTOLO, RAFFAELE, PICILLO, ESTHER, MINUCCI, SERGIO, POLITANO¹, LUISA

Get full text

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies by D’AMBROSIO, PAOLA, PETILLO, ROBERTA, TORELLA, ANNALAURA, PAPA, ANDREA ANTONIO, PALLADINO, ALBERTO, ORSINI, CHIARA, ERGOLI, MANUELA, PASSAMANO, LUIGIA, NOVELLI, ANTONIO, NIGRO, VINCENZO, POLITANO, LUISA

Get full text

TMEM5- associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement by Astrea, Guja, MD, PhD, Pezzini, Ilaria, PhD, Picillo, Ester, MD, Pasquariello, Rosa, MD, Moro, Francesca, PhD, Ergoli, Manuela, D'Ambrosio, Paola, D'Amico, Adele, MD, PhD, Politano, Luisa, MD, Santorelli, Filippo Maria, MD

Get full text

Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results by PALLADINO, ALBERTO, PAPA, ANDREA A., MORRA, SALVATORE, RUSSO, VINCENZO, ERGOLI, MANUELA, RAGO, ANNA, ORSINI, CHIARA, NIGRO, GERARDO, POLITANO, LUISA

Get full text

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

Get full text

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

Get full text

Novel mutations in LMNA A/C gene and associated phenotypes by Petillo, Roberta, D'Ambrosio, Paola, Torella, Annalaura, Taglia, Antonella, Picillo, Esther, Testori, Alessandro, Ergoli, Manuela, Nigro, Gerardo, Piluso, Giulio, Nigro, Vincenzo, Politano, Luisa

Get full text