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Issue Date | Title | Author(s) |
---|---|---|
15-Feb-2009 | Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? | Gamez, Josep; Armstrong i Morón, Judith; Shatunov, Alexey; Selva O'Callaghan, Albert; Domínguez Oronoz, Rosa; Ortega, Arantxa; Goldfarb, Lev G.; Ferrer, Isidro (Ferrer Abizanda); Olivé i Plana, Montserrat |
Jun-2007 | Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene | Olivé i Plana, Montserrat; Armstrong i Morón, Judith; Miralles, Francesc; Pou, Adolf; Fardeau, Michel; González Mera, Laura; Martínez, Francesca; Fisher, Dirk; Martínez Matos, Juan Antonio; Shatunov, Alexey; Goldfarb, Lev G.; Ferrer, Isidro (Ferrer Abizanda) |
Dec-2008 | Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient | Olivé i Plana, Montserrat; Shatunov, Alexey; González Mera, Laura; Carmona, Olga; Moreno, Dolores; González Quereda, Lidia; Martínez Matos, Juan Antonio; Goldfarb, Lev G.; Ferrer, Isidro (Ferrer Abizanda) |