Browsing by Author Goldfarb, Lev G.

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Showing results 1 to 12 of 12
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.
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
Oct-2013Myofibrillar myopathies: new developmentsOlivé i Plana, Montserrat; Kley, Rudolf A.; Goldfarb, Lev 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.
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)
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.
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)