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Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.
Published in:
Human Genetics, 2016, v. 135, n. 7, p. 685, doi. 10.1007/s00439-016-1666-6
By:
- Viggiano, Emanuela;
- Ergoli, Manuela;
- Picillo, Esther;
- Politano, Luisa
Publication type:
Article
Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy.
Published in:
Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 4, p. 2442, doi. 10.1111/jcmm.13543
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
Publication type:
Article
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.
Published in:
Molecular Reproduction & Development, 2020, v. 87, n. 1, p. 45, doi. 10.1002/mrd.23307
By:
- Ergoli, Manuela;
- Venditti, Massimo;
- Picillo, Esther;
- Minucci, Sergio;
- Politano, Luisa
Publication type:
Article
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.
Published in:
Acta Myologica, 2019, v. 38, n. 2, p. 33
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
Publication type:
Article
Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results.
Published in:
Acta Myologica, 2019, v. 38, n. 1, p. 1
By:
- PALLADINO, ALBERTO;
- PAPA, ANDREA A.;
- MORRA, SALVATORE;
- RUSSO, VINCENZO;
- ERGOLI, MANUELA;
- RAGO, ANNA;
- ORSINI, CHIARA;
- NIGRO, GERARDO;
- POLITANO, LUISA
Publication type:
Article
Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results.
Published in:
Acta Myologica, 2017, v. 36, n. 4, p. 199
By:
- ERGOLI, MANUELA;
- VENDITTI, MASSIMO;
- DOTOLO, RAFFAELE;
- PICILLO, ESTHER;
- MINUCCI, SERGIO;
- POLITANO, LUISA
Publication type:
Article
Novel mutations in LMNA A/C gene and associated phenotypes.
Published in:
Acta Myologica, 2015, v. 34, n. 2/3, p. 116
By:
- PETILLO, ROBERTA;
- D'AMBROSIO, PAOLA;
- TORELLA, ANNALAURA;
- TAGLIA, ANTONELLA;
- PICILLO, ESTHER;
- TESTORI, ALESSANDRO;
- ERGOLI, MANUELA;
- NIGRO, GERARDO;
- PILUSO, GIULIO;
- NIGRO, VINCENZO;
- POLITANO, LUISA
Publication type:
Article
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene.
Published in:
Acta Myologica, 2015, v. 34, n. 1, p. 9
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
Publication type:
Article
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.
Published in:
Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00063
By:
- Orsini, Chiara;
- Petillo, Roberta;
- D'Ambrosio, Paola;
- Ergoli, Manuela;
- Picillo, Esther;
- Scutifero, Marianna;
- Passamano, Luigia;
- De Luca, Alessandro;
- Politano, Luisa
Publication type:
Article
Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.
Published in:
Journal of Gene Medicine, 2017, v. 19, n. 4, p. n/a, doi. 10.1002/jgm.2952
By:
- Viggiano, Emanuela;
- Picillo, Esther;
- Ergoli, Manuela;
- Cirillo, Alessandra;
- Del Gaudio, Stefania;
- Politano, Luisa
Publication type:
Article
X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.
Published in:
Genes, 2019, v. 10, n. 11, p. 919, doi. 10.3390/genes10110919
By:
- Viggiano, Emanuela;
- Madej-Pilarczyk, Agnieszka;
- Carboni, Nicola;
- Picillo, Esther;
- Ergoli, Manuela;
- del Gaudio, Stefania;
- Marchel, Michal;
- Nigro, Gerardo;
- Palladino, Alberto;
- Politano, Luisa
Publication type:
Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
Published in:
Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
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
Publication type:
Article

Found: 12