New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses
Maerkens, A, Olivé, M, Schreiner, A, Feldkirchner, S, Schessl, J, Uszkoreit, J, Barkovits, K, Güttsches, A K, Theis, V, Eisenacher, M, Tegenthoff, M, Goldfarb, L G, Schröder, R, Schoser, B, van der Ven, P F M, Fürst, D O, Vorgerd, M, Marcus, K, Kley, R A
Published in Acta neuropathologica communications (03.02.2016)
Published in Acta neuropathologica communications (03.02.2016)
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Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy
Maerkens, A., Kley, R.A., Olivé, M., 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., Schröder, R., Tegenthoff, M., Fürst, D.O., Müller, T., Goldfarb, L.G., Vorgerd, M., Marcus, K.
Published in Journal of proteomics (02.09.2013)
Published in Journal of proteomics (02.09.2013)
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Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
Kley, Rudolf A., Hellenbroich, Yorck, van der Ven, Peter F. M., Fürst, Dieter O., Huebner, Angela, Bruchertseifer, Vera, Peters, Sören A., Heyer, Christoph M., Kirschner, Janbernd, Schröder, Rolf, Fischer, Dirk, Müller, Klaus, Tolksdorf, Karen, Eger, Katharina, Germing, Alfried, Brodherr, Turgut, Reum, Conny, Walter, Maggie C., Lochmüller, Hanns, Ketelsen, Uwe-Peter, Vorgerd, Matthias
Published in Brain (London, England : 1878) (01.12.2007)
Published in Brain (London, England : 1878) (01.12.2007)
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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
Guergueltcheva, V, Peeters, K, Baets, J, Ceuterick-de Groote, C, Martin, J J, Suls, A, De Vriendt, E, Mihaylova, V, Chamova, T, Almeida-Souza, L, Ydens, E, Tzekov, C, Hadjidekov, G, Gospodinova, M, Storm, K, Reyniers, E, Bichev, S, van der Ven, P F M, Fürst, D O, Mitev, V, Lochmüller, H, Timmerman, V, Tournev, I, De Jonghe, P, Jordanova, A
Published in Neurology (13.12.2011)
Published in Neurology (13.12.2011)
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Xin-deficient mice display myopathy, impaired contractility, attenuated muscle repair and altered satellite cell functionality
Al-Sajee, D., Nissar, A. A., Coleman, S. K., Rebalka, I. A., Chiang, A., Wathra, R., van der Ven, P. F. M., Orfanos, Z., Hawke, T. J.
Published in Acta Physiologica (01.06.2015)
Published in Acta Physiologica (01.06.2015)
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Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle
Bönnemann, C.G, Thompson, T.G, van der Ven, P.F.M, Goebel, H.H, Warlo, I, Vollmers, B, Reimann, J, Herms, J, Gautel, M, Takada, F, Beggs, A.H, Fürst, D.O, Kunkel, L.M, Hanefeld, F, Schröder, R
Published in Journal of the neurological sciences (15.01.2003)
Published in Journal of the neurological sciences (15.01.2003)
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Myotonic dystrophy kinase is a component of neuromuscular junctions
van der Ven, P F, Jansen, G, van Kuppevelt, T H, Perryman, M B, Lupa, M, Dunne, P W, ter Laak, H J, Jap, P H, Veerkamp, J H, Epstein, H F
Published in Human molecular genetics (01.11.1993)
Published in Human molecular genetics (01.11.1993)
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New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations
Olivé, Montse, Abdul-Hussein, Saba, Oldfors, Anders, González-Costello, José, van der Ven, Peter F M, Fürst, Dieter O, González, Laura, Moreno, Dolores, Torrejón-Escribano, Benjamín, Alió, Josefina, Pou, Adolf, Ferrer, Isidro, Tajsharghi, Homa
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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Structural basis for activation of the titin kinase domain during myofibrillogenesis
Wilmanns, Matthias, Gautel, Mathias, Mayans, Olga, van der Ven, Peter F. M, Wilm, Matthias, Mues, Alexander, Young, Paul, Fürst, Dieter O
Published in Nature (London) (29.10.1998)
Published in Nature (London) (29.10.1998)
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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
Schröder, Rolf, Goudeau, Bertrand, Simon, Monique Casteras, Fischer, Dirk, Eggermann, Thomas, Clemen, Christoph S., Li, Zhenlin, Reimann, Jens, Xue, Zhigang, Rudnik-Schöneborn, Sabine, Zerres, Klaus, van der Ven, Peter F. M., Fürst, Dieter O., Kunz, Wolfram S., Vicart, Patrick
Published in Human molecular genetics (15.03.2003)
Published in Human molecular genetics (15.03.2003)
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A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2
Palenzuela, L, Andreu, A L, Gàmez, J, Vilà, M R, Kunimatsu, T, Meseguer, A, Cervera, C, Fernandez Cadenas, I, van der Ven, P F M, Nygaard, T G, Bonilla, E, Hirano, M
Published in Neurology (12.08.2003)
Published in Neurology (12.08.2003)
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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
Schröder, Rolf, Goudeau, Bertrand, Simon, Monique Casteras, Fischer, Dirk, Eggermann, Thomas, Clemen, Christoph S., Li, Zhenlin, Reimann, Jens, Xue, Zhigang, Rudnik-Schöneborn, Sabine, Zerres, Klaus, van der Ven, Peter F. M., Fürst, Dieter O., Kunz, Wolfram S., Vicart, Patrick
Published in Human molecular genetics (01.12.2007)
Published in Human molecular genetics (01.12.2007)
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Titin aggregates associated with intermediate filaments align along stress fiber-like structures during human skeletal muscle cell differentiation
VAN DER VEN, P. F. M, SCHAART, G, CROES, H. J. E, JAP, P. H. K, GINSEL, L. A, RAMAEKERS, F. C. S
Published in Journal of cell science (01.11.1993)
Published in Journal of cell science (01.11.1993)
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Assignment of the Human Gene for Endosarcomeric Cytoskeletal M-Protein (MYOM2) to 8p23.3
van der Ven, Peter F.M., Speel, Ernst J.M., Albrechts, Jozefa C.M., Ramaekers, Frans C.S., Hopman, Anton H.N., Fürst, Dieter O.
Published in Genomics (San Diego, Calif.) (15.01.1999)
Published in Genomics (San Diego, Calif.) (15.01.1999)
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Assignment of the Human Gene for the Sarcomeric M-Band Protein Myomesin (MYOM1) to 18p11.31–p11.32
Speel, Ernst J.M., van der Ven, Peter F.M., Albrechts, Jozefa C.M., Ramaekers, Frans C.S., Fürst, Dieter O., Hopman, Anton H.N.
Published in Genomics (San Diego, Calif.) (15.11.1998)
Published in Genomics (San Diego, Calif.) (15.11.1998)
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Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins
Van Der Ven, Peter F.M., Jap, Paul H.K., Ter Laak, Henk J., Nonaka, Ikuya, Barth, Peter G., Sengers, Rob C.A., Stadhouders, Ad M., Ramaekers, Frans C.S.
Published in Journal of the neurological sciences (01.04.1995)
Published in Journal of the neurological sciences (01.04.1995)
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Characterization of cardiotin, a structural component in the myocard
Schaart, G, van der Ven, P F, Ramaekers, F C
Published in European journal of cell biology (01.10.1993)
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Published in European journal of cell biology (01.10.1993)
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