X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis
Viggiano, Emanuela, Politano, Luisa
Published in International journal of molecular sciences (17.07.2021)
Published in International journal of molecular sciences (17.07.2021)
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Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy
Viggiano, Emanuela, Ergoli, Manuela, Picillo, Esther, Politano, Luisa
Published in Human Genetics (01.07.2016)
Published in Human Genetics (01.07.2016)
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Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
Maggi, Lorenzo, Bello, Luca, Bonanno, Silvia, Govoni, Alessandra, Caponnetto, Claudia, Passamano, Luigia, Grandis, Marina, Trojsi, Francesca, Cerri, Federica, Ferraro, Manfredi, Bozzoni, Virginia, Caumo, Luca, Piras, Rachele, Tanel, Raffaella, Saccani, Elena, Meneri, Megi, Vacchiano, Veria, Ricci, Giulia, Soraru', Gianni, D'Errico, Eustachio, Tramacere, Irene, Bortolani, Sara, Pavesi, Giovanni, Zanin, Riccardo, Silvestrini, Mauro, Politano, Luisa, Schenone, Angelo, Previtali, Stefano Carlo, Berardinelli, Angela, Turri, Mara, Verriello, Lorenzo, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Marrosu, Gianni, Siciliano, Gabriele, Simone, Isabella Laura, Mongini, Tiziana, Comi, Giacomo, Pegoraro, Elena
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2020)
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Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
Onore, Maria Elena, Savarese, Marco, Picillo, Esther, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Published in International journal of molecular sciences (14.12.2022)
Published in International journal of molecular sciences (14.12.2022)
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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo
Published in PloS one (19.08.2020)
Published in PloS one (19.08.2020)
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Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically
Torella, Annalaura, Budillon, Alberto, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Picillo, Esther, Politano, Luisa, Nigro, Vincenzo, Piluso, Giulio
Published in International journal of molecular sciences (25.05.2023)
Published in International journal of molecular sciences (25.05.2023)
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Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report
Onore, Maria Elena, Picillo, Esther, D'Ambrosio, Paola, Morra, Salvatore, Nigro, Vincenzo, Politano, Luisa
Published in Biomolecules (Basel, Switzerland) (22.04.2024)
Published in Biomolecules (Basel, Switzerland) (22.04.2024)
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Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Mazzone, Elena Stacy, Mayhew, Anna, Fanelli, Lavinia, Messina, Sonia, D'Amico, Adele, Catteruccia, Michela, Scutifero, Marianna, Frosini, Silvia, Lanzillotta, Valentina, Colia, Giulia, Cavallaro, Filippo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Petillo, Roberta, Barp, Andrea, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Zanin, Riccardo, Vita, Gian Luca, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Berardinelli, Angela, Battini, Roberta, Sansone, Valeria, Albamonte, Emilio, Baranello, Giovanni, Bertini, Enrico, Politano, Luisa, Sormani, Maria Pia, Mercuri, Eugenio
Published in PloS one (20.06.2018)
Published in PloS one (20.06.2018)
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Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
Viggiano, Emanuela, Picillo, Esther, Passamano, Luigia, Onore, Maria Elena, Piluso, Giulio, Scutifero, Marianna, Torella, Annalaura, Nigro, Vincenzo, Politano, Luisa
Published in Genes (14.01.2023)
Published in Genes (14.01.2023)
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Skewed X‐chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy
Viggiano, Emanuela, Picillo, Esther, Ergoli, Manuela, Cirillo, Alessandra, Del Gaudio, Stefania, Politano, Luisa
Published in The journal of gene medicine (01.04.2017)
Published in The journal of gene medicine (01.04.2017)
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The variability of SMCHD1 gene in FSHD patients: evidence of new mutations
Strafella, Claudia, Caputo, Valerio, Galota, Rosaria Maria, Campoli, Giulia, Bax, Cristina, Colantoni, Luca, Minozzi, Giulietta, Orsini, Chiara, Politano, Luisa, Tasca, Giorgio, Novelli, Giuseppe, Ricci, Enzo, Giardina, Emiliano, Cascella, Raffaella
Published in Human molecular genetics (01.12.2019)
Published in Human molecular genetics (01.12.2019)
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The Role of the Atrial Electromechanical Delay in Predicting Atrial Fibrillation in Myotonic Dystrophy Type 1 Patients
RUSSO, VINCENZO, RAGO, ANNA, CIARDIELLO, CARMINE, RUSSO, MARIA GIOVANNA, CALABRÒ, PAOLO, POLITANO, LUISA, NIGRO, GERARDO
Published in Journal of cardiovascular electrophysiology (01.01.2016)
Published in Journal of cardiovascular electrophysiology (01.01.2016)
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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy
Barp, Andrea, Bello, Luca, Politano, Luisa, Melacini, Paola, Calore, Chiara, Polo, Angela, Vianello, Sara, Sorarù, Gianni, Semplicini, Claudio, Pantic, Boris, Taglia, Antonella, Picillo, Ester, Magri, Francesca, Gorni, Ksenija, Messina, Sonia, Vita, Gian Luca, Vita, Giuseppe, Comi, Giacomo P, Ermani, Mario, Calvo, Vincenzo, Angelini, Corrado, Hoffman, Eric P, Pegoraro, Elena
Published in PloS one (29.10.2015)
Published in PloS one (29.10.2015)
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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R, Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, D'Ambrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena
Published in Neurology (28.04.2015)
Published in Neurology (28.04.2015)
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Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series
Papa, Andrea Antonio, D'Ambrosio, Paola, Petillo, Roberta, Palladino, Alberto, Politano, Luisa
Published in Intractable & Rare Diseases Research (01.05.2017)
Published in Intractable & Rare Diseases Research (01.05.2017)
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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up
Coratti, Giorgia, Pane, Marika, Brogna, Claudia, Ricotti, Valeria, Messina, Sonia, D'Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C, Politano, Luisa, Comi, Giacomo P, Sansone, Valeria A, Donati, Alice, Hogrel, Jean Yves, Straub, Volker, De Lucia, Silvana, Niks, Erik, Servais, Laurent, De Groot, Imelda, Chesshyre, Mary, Bertini, Enrico, Goemans, Nathalie, Muntoni, Francesco, Mercuri, Eugenio
Published in PloS one (25.06.2021)
Published in PloS one (25.06.2021)
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The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution
Palladino, Alberto, Papa, Andrea Antonio, Petillo, Roberta, Scutifero, Marianna, Morra, Salvatore, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Published in Genes (28.01.2022)
Published in Genes (28.01.2022)
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Diagnosis of duchenne muscular dystrophy in italy in the last decade: critical issues and areas for improvements
D'Amico, Adele, Catteruccia, Michela, Baranello, Giovanni, Politano, Luisa, Govoni, Alessandra, Previtali, Stefano Carlo, Pane, Marika, D'Angelo, Maria Grazia, Bruno, Claudio, Messina, Sonia, Ricci, Federica, Pegoraro, Elena, Pini, Antonella, Berardinelli, Angela, Gorni, Ksenjia, Battini, Roberta, Vita, Gianluca, Trucco, Federica, Scutifero, Marianna, Petillo, Roberta, D'Ambrosio, Paola, Ardissone, Anna, Pasanisi, Barbara, Vita, Giuseppe, Mongini, Tiziana, Moggio, Maurizio, Comi, Giacomo Pietro, Mercuri, Eugenio, Bertini, Enrico
Published in Neuromuscular disorders : NMD (01.05.2017)
Published in Neuromuscular disorders : NMD (01.05.2017)
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