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Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. [electronic resource] by
- Bello, Luca
- Campadello, Paola
- Barp, Andrea
- Fanin, Marina
- Semplicini, Claudio
- Sorarù, Gianni
- Caumo, Luca
- Calore, Chiara
- Angelini, Corrado
- Pegoraro, Elena
Producer: 20180516
In:
Scientific reports vol. 6
Availability: No items available.
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9.
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Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. [electronic resource] by
- Vianello, Andrea
- Semplicini, Claudio
- Paladini, Luciana
- Concas, Alessandra
- Ravaglia, Sabrina
- Servidei, Serenella
- Toscano, Antonio
- Mongini, Tiziana
- Angelini, Corrado
- Pegoraro, Elena
Producer: 20140529
In:
Lung vol. 191
Availability: No items available.
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10.
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The role of electrodiagnosis with long exercise test in mcardle disease. [electronic resource] by
- Semplicini, Claudio
- Hézode-Arzel, Marianne
- Laforêt, Pascal
- Béhin, Anthony
- Leonard-Louis, Sarah
- Hogrel, Jean-Yves
- Petit, François
- Eymard, Bruno
- Stojkovic, Tanya
- Fournier, Emmanuel
Publication details: Muscle & nerve Jan 2018
In:
Muscle & nerve
Availability: No items available.
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11.
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SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells. [electronic resource] by
- Vianello, Sara
- Pantic, Boris
- Fusto, Aurora
- Bello, Luca
- Galletta, Eva
- Borgia, Doriana
- Gavassini, Bruno F
- Semplicini, Claudio
- Sorarù, Gianni
- Vitiello, Libero
- Pegoraro, Elena
Producer: 20180111
In:
Human molecular genetics vol. 26
Availability: No items available.
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12.
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Muscle MRI and functional outcome measures in Becker muscular dystrophy. [electronic resource] by
- Barp, Andrea
- Bello, Luca
- Caumo, Luca
- Campadello, Paola
- Semplicini, Claudio
- Lazzarotto, Annalisa
- Sorarù, Gianni
- Calore, Chiara
- Rampado, Alessandro
- Motta, Raffaella
- Stramare, Roberto
- Pegoraro, Elena
Producer: 20190703
In:
Scientific reports vol. 7
Availability: No items available.
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13.
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Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease. [electronic resource] by
- Bertoldo, Francesco
- Zappini, Francesca
- Brigo, Martina
- Moggio, Maurizio
- Lucchini, Valeria
- Angelini, Corrado
- Semplicini, Claudio
- Filosto, Massimiliano
- Ravaglia, Sabrina
- Cotelli, Sofia
- Todeschini, Alice
- Scarpelli, Mauro
- Pancheri, Serena
- Tonin, Paola
Publication details: Journal of neuromuscular diseases
In:
Journal of neuromuscular diseases vol. 2
Availability: No items available.
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14.
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Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. [electronic resource] by
- Bertoldo, Francesco
- Zappini, Francesca
- Brigo, Martina
- Moggio, Maurizio
- Lucchini, Valeria
- Angelini, Corrado
- Semplicini, Claudio
- Filosto, Massimiliano
- Ravaglia, Sabrina
- Cotelli, Sofia
- Todeschini, Alice
- Scarpelli, Mauro
- Pancheri, Serena
- Tonin, Paola
Producer: 20150414
In:
The Journal of clinical endocrinology and metabolism vol. 100
Availability: No items available.
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15.
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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. [electronic resource] by
- 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
Producer: 20150706
In:
Neurology vol. 84
Availability: No items available.
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16.
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Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations. [electronic resource] by
- Cao, Michelangelo
- Donà, Marta
- Lucia Valentino, Maria
- Semplicini, Claudio
- Maresca, Alessandra
- Cassina, Matteo
- Torraco, Alessandra
- Galletta, Eva
- Manfioli, Valeria
- Sorarù, Gianni
- Carelli, Valerio
- Stramare, Roberto
- Bertini, Enrico
- Carrozzo, Rosalba
- Salviati, Leonardo
- Pegoraro, Elena
Publication details: Neurogenetics 01 2017
In:
Neurogenetics vol. 18
Availability: No items available.
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17.
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New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. [electronic resource] by
- Angelini, Corrado
- Semplicini, Claudio
- Ravaglia, Sabrina
- Moggio, Maurizio
- Comi, Giacomo P
- Musumeci, Olimpia
- Pegoraro, Elena
- Tonin, Paola
- Filosto, Massimiliano
- Servidei, Serenella
- Morandi, Lucia
- Crescimanno, Grazia
- Marrosu, Giovanni
- Siciliano, Gabriele
- Mongini, Tiziana
- Toscano, Antonio
Producer: 20120726
In:
Muscle & nerve vol. 45
Availability: No items available.
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18.
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Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations. [electronic resource] by
- Cao, Michelangelo
- Donà, Marta
- Valentino, M Lucia
- Semplicini, Claudio
- Maresca, Alessandra
- Cassina, Matteo
- Torraco, Alessandra
- Galletta, Eva
- Manfioli, Valeria
- Sorarù, Gianni
- Carelli, Valerio
- Stramare, Roberto
- Bertini, Enrico
- Carozzo, Rosalba
- Salviati, Leonardo
- Pegoraro, Elena
Producer: 20160721
In:
Neurogenetics vol. 17
Availability: No items available.
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19.
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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. [electronic resource] by
- Semplicini, Claudio
- Letard, Pascaline
- De Antonio, Marie
- Taouagh, Nadjib
- Perniconi, Barbara
- Bouhour, Françoise
- Echaniz-Laguna, Andoni
- Orlikowski, David
- Sacconi, Sabrina
- Salort-Campana, Emmanuelle
- Solé, Guilhem
- Zagnoli, Fabien
- Hamroun, Dalil
- Froissart, Roseline
- Caillaud, Catherine
- Laforêt, Pascal
Producer: 20191105
In:
Journal of inherited metabolic disease vol. 41
Availability: No items available.
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20.
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Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations. [electronic resource] by
- Cao, Michelangelo
- Donà, Marta
- Valentino, M Lucia
- Valentino, Lucia
- Semplicini, Claudio
- Maresca, Alessandra
- Cassina, Matteo
- Torraco, Alessandra
- Galletta, Eva
- Manfioli, Valeria
- Sorarù, Gianni
- Carelli, Valerio
- Stramare, Roberto
- Bertini, Enrico
- Carrozzo, Rosalba
- Salviati, Leonardo
- Pegoraro, Elena
Producer: 20161019
In:
Neurogenetics vol. 17
Availability: No items available.
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