Publications:

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

Frontiers In Genetics

Neri, Marcella M; Rossi, Rachele R; Trabanelli, Cecilia C; Mauro, Antonio A; Selvatici, Rita R; Falzarano, Maria Sofia MS; Spedicato, Noemi N; Margutti, Alice A; Rimessi, Paola P; Fortunato, Fernanda F; Fabris, Marina M; Gualandi, Francesca F; Comi, Giacomo G; Tedeschi, Silvana S; Seia, Manuela M; Fiorillo, Chiara C; Traverso, Monica M; Bruno, Claudio C; Giardina, Emiliano E; Piemontese, Maria Rosaria MR; Merla, Giuseppe G; Cau, Milena M; Marica, Monica M; Scuderi, Carmela C; Borgione, Eugenia E; Tessa, Alessandra A; Astrea, Guia G; Santorelli, Filippo Maria FM; Merlini, Luciano L; Mora, Marina M; Bernasconi, Pia P; Gibertini, Sara S; Sansone, Valeria V; Mongini, Tiziana T; Berardinelli, Angela A; Pini, Antonella A; Liguori, Rocco R; Filosto, Massimiliano M; Messina, Sonia S; Vita, Gianluca G; Toscano, Antonio A; Vita, Giuseppe G; Pane, Marika M; Servidei, Serenella S; Pegoraro, Elena E; Bello, Luca L; Travaglini, Lorena L; Bertini, Enrico E; D'Amico, Adele A; Ergoli, Manuela M; Politano, Luisa L; Torella, Annalaura A; Nigro, Vincenzo V; Mercuri, Eugenio E; Ferlini, Alessandra A

Publication Date: 2020

Variant appearance in text: DMD: 4299G>T; Gly1433Gly

PubMed Link: 32194622

Variant Present in the following documents:

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Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

Scientific Reports

Bello, Luca L; Campadello, Paola P; Barp, Andrea A; Fanin, Marina M; Semplicini, Claudio C; Sorarù, Gianni G; Caumo, Luca L; Calore, Chiara C; Angelini, Corrado C; Pegoraro, Elena E

Publication Date: 2016-09-01

Variant appearance in text: DMD: 4299G>T; Gly1433Gly

PubMed Link: 27582364

Variant Present in the following documents:

• Main text
• srep32439.pdf

View BVdb publication page