Browsing by Author Olivé i Plana, Montserrat

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Issue DateTitleAuthor(s)
14-Jun-2011Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathyOlivé i Plana, Montserrat; Odgerel, Zagaa; Martínez, Amaia; Poza, Juan José; García Bragado, Federico; Zabalza, Ramón J.; Jericó, Ivonne; González Mera, Laura; Shatunov, Alexey; Lee, Hee Suk; Armstrong i Morón, Judith; Maraví, Elías; Ramos Arroyo, María; Pascual Calvet, Jordi; Navarro, Carmen; Paradas, Carmen; Huerta Villanueva, Mariano; Márquez, Fabian; Gutierrez Rivas, Eduardo; Pou, Adolf; Ferrer, Isidro (Ferrer Abizanda); Goldfarb, Lev G.
8-Aug-2017Differences In Adipose Tissue And Lean Mass Distribution In Patients With Collagen Vi Related Myopathies Are Associated With Disease Severity And Physical AbilityRodríguez, María Angeles; Barquero, Luís M. del Rio; Ortez, Carlos Ignacio; Jou, Cristina; Vigo, Meritxell; Medina, Julita; Febrer, Anna; Ramon-Krauel, Marta; Díaz Manera, Jordi; Olivé i Plana, Montserrat; González Mera, Laura; Nascimento, Andrés; Jiménez Mallebrera, Cecilia
2-Sep-2013Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathyMaerkens, A.; Kley, Rudolf A.; Olivé i Plana, Montserrat; Theis, V.; van der Ven, P. F. M.; Reimann, J.; Milting, H.; Schreiner, A.; Uszkoreit, J.; Eisenacher, M.; Barkovits, K.; Güttsches, A. K.; Tonillo, J.; Kuhlmann, K.; Meyer, H. E.; Schroder, R.; Tegenthoff, M.; Furst, Dieter O.; Muller, Thorsten; Goldfarb, Lev G.; Vorgerd, Matthias; Marcus, Katrin, 1972-
2-Sep-2008Distinct muscle imaging patterns in myofibrillar myopathiesFischer, 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
20-Mar-2013Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic originsToro, Camilo; Olivé i Plana, Montserrat; Dalakas, Marinos C.; Sivakumar, Kumaraswami; Bilbao, Juan M.; Tyndel, Felix; Vidal, Noemí; Farrero, Eva; Sambuughin, Nyamkhishig; Goldfarb, Lev G.
1-Jan-2013Filamin C-related myopathies: pathology and mechanismsFurst, Dieter O.; Goldfarb, Lev G.; Kley, Rudolf A.; Vorgerd, Matthias; Olivé i Plana, Montserrat; Ven, Peter F. M. van der
15-Feb-2009Generalized 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
17-Aug-2017Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositisLuna, Noemí de; Suárez Calvet, Xavier; Lleixà, Cinta; Díaz Manera, Jordi; Olivé i Plana, Montserrat; Illa Sendra, Isabel; Gallardo, Eduard
6-Jan-2019Late-onset thymidine kinase 2 deficiency: a review of 18 casesDomínguez González, Cristina; Hernández lain, Aurelio; Rivas, Eloy; Hernández Voth, Ana; Sayas Catalán, Javier; Fernández Torrón, Roberto; Fuiza Luces, Carmen; García García, Jorge; Morís, Germán; Olivé i Plana, Montserrat; Miralles, Francesc; Díaz Manera, Jordi; Caballero, Candela; Méndez Ferrer, Bosco; Martí, Ramon; García Arumí, Elena; Badosa, Carmen; Esteban, Jesús; Jiménez-Mallebrera, Cecilia; Blázquez Encinar, Alberto; Arenas, Joaquín; Hirano, Michio; Martin, Miguel Ángel; Paradas, Carmen
27-Sep-2019Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype studySedghi, Maryam; Moslemi, Ali‐Reza; Olivé i Plana, Montserrat; Etemadifar, Masoud; Ansari, Behnaz; Nasiri, Jafar; Emrahi, Leila; Mianesaz, Hamid‐Reza; Laing, Nigel G.; Tajsharghi, Homa
1-Dec-2018Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-upGómez Andrés, David; Díaz Manera, Jordi; Alejaldre, Aida; Pulido Valdeolivas, Irene; González Mera, Laura; Olivé i Plana, Montserrat; Vilchez, Juan José; López de Munain, Adolfo; Paradas, Carmen; Muelas, Nuria; Sánchez Montáñez, Ángel; Alonso Jimenez, Alicia; Gómez de la Banda, Marta; Dabaj, Ivana; Bonne, Gisèle; Munell Casadesús, Francina; Carlier, Robert Y.; Quijano Roy, Susana
25-May-2020Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathySalazar Mendiguchía, Joel; Ochoa, Juan Pablo; Palomino Doza, Julián; Domínguez, Fernando; Díez López, Carles; Akhtar, Mohammed; Ramiro León, Soraya; Clemente, María M.; Pérez Cejas, Antonia; Robledo, María; Gómez Díaz, Iria; Peña Peña, María Luisa; Climent, Vicente; Salmerón Martínez, Francisco; Hernández, Celestino; García Granja, Pablo Elpidio; Mogollón, M. Victoria; Cárdenas Reyes, Ivonne; Cicerchia, Marcos; García Giustiniani, Diego; Lamounier Jr., Arsonval; Gil Fournier, Belén; Díaz Flores, Felícitas; Salguero, Rafael; Santomé, Luis; Syrris, Petros; Olivé i Plana, Montserrat; Garcia Pavia, Pablo; Ortiz Genga, Martín; Elliott, Perry M.; Monserrat, Lorenzo; Genescopic Research Group
Oct-2013Myofibrillar myopathies: new developmentsOlivé i Plana, Montserrat; Kley, Rudolf A.; Goldfarb, Lev G.
1-Jan-2019Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsOlivé i Plana, Montserrat; Engvall, Martin; Ravenscroft, Gianina; Cabrera Serrano, Macarena; Jiao, Hong; Bortolotti, Carlo Augusto; Pignataro, Marcello; Lambrughi, Matteo; Jiang, Haibo; Forrest, Alistair R. R.; Benseny Cases, Núria; Hofbauer, Stefan; Obinger, Christian; Battistuzzi, Gianantonio; Bellei, Marzia; Borsari, Marco; Di Rocco, Giulia; Viola, Helena M.; Hoo, Livia C.; Cladera, Josep; Lagerstedt Robinson, Kristina; Xiang, Fengqing; Wredenberg, Anna; Miralles, Francesc; Baiges, Juan José; Malfatti, Edoardo; Romero, Norma B.; Streichenberger, Nathalie; Via, Christophe; Claeys, Kristl G.; Straathof, Chiara S.M; Goris, An; Freyer, Christoph; Lammens, Martin; Bassez, Guillaume; Kere, Juha; Clemente, Paula; Sejersen, Thomas; Udd, Bjarne; Vidal, Noemí; Ferrer, Isidro (Ferrer Abizanda); Edstrom, Lars; Wedell, Anna; Laing, Nigel G.
1-Dec-2010Nemaline myopathy type 6: clinical and myopathological featuresOlivé i Plana, Montserrat; Goldfarb, Lev G.; Lee, Hee Suk; Odgerel, Zagaa; Blokhin, Andre; González Mera, Laura; Moreno, Dolores; Laing, Nigel G.; Sambuughin, Nyamkhishig
3-Feb-2016New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analysesMaerkens, A.; Olivé i Plana, Montserrat; Schreiner, A.; Feldkirchner, S.; Schessl, Joachim; Uszkoreit, J.; Barkovits, K.; Güttsches, A. K.; Theis, V.; Eisenacher, M.; Tegenthoff, M.; Goldfarb, Lev G.; Schröder, R.; Schoser, B.; van der Ven, P. F. M.; Furst, Dieter O.; Vorgerd, Matthias; Marcus, Katrin, 1972-; Kley, Rudolf A.
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.