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: 2949+1G>T

PubMed Link: 32194622

Variant Present in the following documents:

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Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics

Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP

Publication Date: 2011-03-11

Variant appearance in text: DMD: 2949+1G>T

PubMed Link: 21396098

Variant Present in the following documents:

• Main text
• 1471-2350-12-37.pdf

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