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by Pawlak, A. et al.Department of Invasive Cardiology, Central Clinical Hospital of Ministry of Internal Affairs and Administration, Warsaw, Poland This correlation was similar to that observed...

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by van Spaendonck-Zwarts, K.Y. et al.Department of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30001, Netherlands The cardiac phenotypes of the DES founder mutations...

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by Otten, E. et al.Department of Genetics, University Medical Center Groningen, University of Groningen, NetherlandsWe demonstrated that the DES mutation p.R454W affects the localization of...

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by Levin, J. et al.Klinikum Grosshadern, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, GermanyDivergent molecular effects of desmin mutations on protein assembly in...

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by Vernengo, L. et al.Department of Genetics, Faculty of Medicine, University of the Republic, Montevideo, UruguayDesmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon...

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by Lindahl Allen, M. et al.Nuclear Biology Group, King's College London School of Medicine, Department of Medical and Molecular Genetics, 8th Floor Tower Wing, UKWe show that the DES LCR and TSS of...

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by Ma, Y. et al.Department of Surgery, The Sixth People's Hospital, Shanghai Jiao Tong University, Shanghai 200233, ChinaProteomics identification of desmin as a potential oncofetal diagnostic and...

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by Conover, G.M. et al.Department of Cell Biology and Anatomy, University of Arizona, Tucson, AZ 85724, USAExpression of the desmin-E245D mutant in myocytes displaces endogenous desmin and C-terminal...

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by van Tintelen, J.P. et al.Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, NetherlandsSevere cardiac phenotype with right ventricular predominance in...

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by Pica, E.C. et al.Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore 308433, SingaporeCharacterization of a novel S13F desmin mutation associated...

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by Walter, M.C. et al.Friedrich Baur Institute, Ludwig Maximilians University of Munich, Department of Neurology, Munich, GermanyMutations of the desmin gene should be considered early in the...

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by Bergman, J.E. et al.Department of Genetics, University Medical Center Groningen, University of Groningen, Post Box 30001, NetherlandsThis is the 5th reported missense mutation located at the 'head'...

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by Taylor, M.R. et al.University of Colorado at Denver and Health Sciences Center, Denver, USAPrevalence of desmin mutations in dilated cardiomyopathy.Circulation. 2007; 10:1244-51[See paper]

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by Pawlak, A. et al.Department of Invasive Cardiology, CSK MWSiA, Warsaw, PolandEvaluation of desmin activity using immunohistochemical and immunofluorescent staining of myocardial biopsies in...

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by Bär, H. et al.Department of Cardiology, University of Heidelberg, Heidelberg, GermanyConspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.Hum. Mutat. 2007;...

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by Kallwellis-Opara, A. et al.Department of Internal Medicine B, University of Greifswald, Greifswald, GermanyImmunoadsorption and subsequent immunoglobulin substitution decreases myocardial gene...

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by Kostareva, A. et al.Department of Woman and Child Health, and Center for Molecular Medicine, Karolinska Institute, Stockholm, SwedenTwo out of 98 patients showed the presence of desmin gene...

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by Fichna, J.P. et al.Two desmin gene mutations associated with myofibrillar myopathies in Polish families.PLoS. ONE. 2014; 12:e115470[See paper]

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by McCormick, E.M. et al. Whole exome sequencing identified a known pathogenic p.S13F mutation in DES that had previously been associated with desmin-related myopathy.Front. Genet. 2015; 199[See paper]

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