MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Orphanet Journal Of Rare Diseases
Fiorillo, C C; Astrea, G G; Savarese, M M; Cassandrini, D D; Brisca, G G; Trucco, F F; Pedemonte, M M; Trovato, R R; Ruggiero, L L; Vercelli, L L; D'Amico, A A; Tasca, G G; Pane, M M; Fanin, M M; Bello, L L; Broda, P P; Musumeci, O O; Rodolico, C C; Messina, S S; Vita, G L GL; Sframeli, M M; Gibertini, S S; Morandi, L L; Mora, M M; Maggi, L L; Petrucci, A A; Massa, R R; Grandis, M M; Toscano, A A; Pegoraro, E E; Mercuri, E E; Bertini, E E; Mongini, T T; Santoro, L L; Nigro, V V; Minetti, C C; Santorelli, F M FM; Bruno, C C; ,
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Acta Neuropathologica Communications
Savarese, Marco M; Di Fruscio, Giuseppina G; Mutarelli, Margherita M; Torella, Annalaura A; Magri, Francesca F; Santorelli, Filippo Maria FM; Comi, Giacomo Pietro GP; Bruno, Claudio C; Nigro, Vincenzo V