Browsing by Author Olivé i Plana, Montserrat

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Showing results 17 to 24 of 24 < previous 
Issue DateTitleAuthor(s)
2-Mar-2010Patologia molecular de les miopaties miofibril·larsJanué Muntasell, Anna
Jun-2007Phenotypic patterns of desminopathy associated with three novel mutations in the desmin geneOlivé 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)
23-Oct-2012Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyJuan Mateu, Jonàs; Rodríguez, Maria José; Nascimento, Andrés; Jiménez Mallebrera, Cecilia; González Quereda, Lidia; Rivas, Eloy; Paradas, Carmen; Madruga, Marcos; Sánchez Ayaso, Pedro; Jou, Cristina; González Mera, Laura; Munell Casadesús, Francina; Roig Quilis, Manuel; Rabasa, Maria; Hernández Lain, Aurelio; Díaz Manera, Jordi; Gallardo, Eduard; Pascual Calvet, Jordi; Verdura, Edgard; Colomer Oferil, Jaume; Baiget Bastús, Montserrat; Olivé i Plana, Montserrat; Gallano, Pia
1-Jun-2009Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desminPiñol Ripoll, Gerard; Shatunov, Alexey; Cabello, Ana; Larrode, Pilar; Puerta, Iris de la; Pelegrín, Juana; Ramos, Feliciano J.; Olivé i Plana, Montserrat; Goldfarb, Lev G.
1-Sep-2013Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other Fhl1-related DisordersMalfatti, Edoardo; Olivé i Plana, Montserrat; Taratuto, Ana Lía; Richard, Pascale; Brochier, Guy; Bitoun, Marc; Gueneau, Lucie; Laforêt, Pascal; Stojkovic, Tanya; Maisonobe, Thierry; Monges, Soledad; Lubieniecki, Fabiana; Vasquez, Gabriel; Streichenberger, Nathalie; Lacène, Emmanuelle; Saccoliti, Maria; Prudhon, Bernard; Alexianu, Marilena; Figarella-Branger, Dominique; Schessl, Joachim; Bonnemann, Carsten; Eymard, Bruno; Fardeau, Michel; Bonne, Gisèle; Romero, Norma Beatriz
1-May-2020Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in SpainGonzález Quereda, Lidia; Rodríguez, Maria Jose; Diaz Manera, Jordi; Alonso Pérez, Jorge; Gallardo, Eduard; Nascimento, Andrés; Ortez, Carlos Ignacio; Natera de Benito, Daniel; Olivé i Plana, Montserrat; González Mera, Laura; López de Munain, Adolfo; Zulaica, Miren; Poza, Juan Jose; Jerico, Ivonne; Tome, Laura; Riera, Pau; Milisenda, José; Sánchez, Aurora; Garrabou Tornos, Glòria; Llano, Isabel; Madruga Garrido, Marcos; Gallano, Pia
2010Tau phosphorylation in myotilinopathies and desminopathiesJanué, Anna; Olivé i Plana, Montserrat; Ferrer, Isidro (Ferrer Abizanda)
Dec-2008Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patientOlivé 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)