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Issue Date | Title | Author(s) |
---|---|---|
1-Jun-2009 | Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin | Piñol Ripoll, Gerard; Shatunov, Alexey; Cabello, Ana; Larrode, Pilar; Puerta, Iris de la; Pelegrín, Juana; Ramos, Feliciano J.; Olivé i Plana, Montserrat; Goldfarb, Lev G. |
2-Sep-2008 | Distinct muscle imaging patterns in myofibrillar myopathies | Fischer, D.; Kley, Rudolf A.; Strach, K.; Meyer, Carsten; Sommer, T.; Eger, K.; Rolfs, A.; Meyer, W.; Pou, Adolf; Pradas, J.; Heyer, C. M.; Grossmann, A.; Huebner, A.; Kress, W.; Reimann, J.; Schroder, R.; Eymard, Bruno; Fardeau, Michel; Udd, Bjarne; Goldfarb, Lev G.; Vorgerd, Matthias; 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) |
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 |
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) |