Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis
Tasca, Giorgio, Monforte, Mauro, De Fino, Chiara, Kley, Rudolf A., Ricci, Enzo, Mirabella, Massimiliano
Published in Muscle & nerve (01.12.2015)
Published in Muscle & nerve (01.12.2015)
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Journal Article
New aspects of myofibrillar myopathies
Kley, Rudolf A, Olivé, Montse, Schröder, Rolf
Published in Current opinion in neurology (01.10.2016)
Published in Current opinion in neurology (01.10.2016)
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Journal Article
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis
Güttsches, Anne‐Katrin, Brady, Stefen, Krause, Kathryn, Maerkens, Alexandra, Uszkoreit, Julian, Eisenacher, Martin, Schreiner, Anja, Galozzi, Sara, Mertens‐Rill, Janine, Tegenthoff, Martin, Holton, Janice L., Harms, Matthew B., Lloyd, Thomas E., Vorgerd, Matthias, Weihl, Conrad C., Marcus, Katrin, Kley, Rudolf A.
Published in Annals of neurology (01.02.2017)
Published in Annals of neurology (01.02.2017)
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Journal Article
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
Winter, Lilli, Wittig, Ilka, Peeva, Viktoriya, Eggers, Britta, Heidler, Juliana, Chevessier, Frederic, Kley, Rudolf A., Barkovits, Katalin, Strecker, Valentina, Berwanger, Carolin, Herrmann, Harald, Marcus, Katrin, Kornblum, Cornelia, Kunz, Wolfram S., Schröder, Rolf, Clemen, Christoph S.
Published in Acta neuropathologica (01.09.2016)
Published in Acta neuropathologica (01.09.2016)
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Journal Article
A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy
Vorgerd, Matthias, van der Ven, Peter F.M., Bruchertseifer, Vera, Löwe, Thomas, Kley, Rudolf A., Schröder, Rolf, Lochmüller, Hanns, Himmel, Mirko, Koehler, Katrin, Fürst, Dieter O., Huebner, Angela
Published in American journal of human genetics (01.08.2005)
Published in American journal of human genetics (01.08.2005)
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Journal Article
A metastable subproteome underlies inclusion formation in muscle proteinopathies
Ciryam, Prajwal, Antalek, Matthew, Cid, Fernando, Tartaglia, Gian Gaetano, Dobson, Christopher M, Guettsches, Anne-Katrin, Eggers, Britta, Vorgerd, Matthias, Marcus, Katrin, Kley, Rudolf A, Morimoto, Richard I, Vendruscolo, Michele, Weihl, Conrad C
Published in Acta neuropathologica communications (03.12.2019)
Published in Acta neuropathologica communications (03.12.2019)
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Journal Article
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy
Löwe, Thomas, Kley, Rudolf A., van der Ven, Peter F.M., Himmel, Mirko, Huebner, Angela, Vorgerd, Matthias, Fürst, Dieter O.
Published in Human molecular genetics (01.06.2007)
Published in Human molecular genetics (01.06.2007)
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Journal Article
Creatine for treating muscle disorders
Kley, Rudolf A, Tarnopolsky, Mark A, Vorgerd, Matthias
Published in Cochrane database of systematic reviews (05.06.2013)
Published in Cochrane database of systematic reviews (05.06.2013)
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Journal Article
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease
Ruggieri, Alessandra, Naumenko, Sergey, Smith, Martin A., Iannibelli, Eliana, Blasevich, Flavia, Bragato, Cinzia, Gibertini, Sara, Barton, Kirston, Vorgerd, Matthias, Marcus, Katrin, Wang, Peixiang, Maggi, Lorenzo, Mantegazza, Renato, Dowling, James J., Kley, Rudolf A., Mora, Marina, Minassian, Berge A.
Published in Acta neuropathologica (01.08.2020)
Published in Acta neuropathologica (01.08.2020)
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Journal Article
Filamin C-related myopathies: pathology and mechanisms
Fürst, Dieter O., Goldfarb, Lev G., Kley, Rudolf A., Vorgerd, Matthias, Olivé, Montse, van der Ven, Peter F. M.
Published in Acta neuropathologica (01.01.2013)
Published in Acta neuropathologica (01.01.2013)
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Journal Article
Myofibrillar myopathies: new developments
Olivé, Montse, Kley, Rudolf A, Goldfarb, Lev G
Published in Current opinion in neurology (01.10.2013)
Published in Current opinion in neurology (01.10.2013)
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Journal Article
Creatine for treating muscle disorders
Kley, Rudolf A, Tarnopolsky, Mark A, Vorgerd, Matthias
Published in Cochrane database of systematic reviews (16.02.2011)
Published in Cochrane database of systematic reviews (16.02.2011)
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Journal Article
Target formation in muscle fibres indicates reinnervation – A proteomic study in muscle samples from peripheral neuropathies
Krause, Karsten, Eggers, Britta, Uszkoreit, Julian, Eulitz, Stefan, Rehmann, Robert, Güttsches, Anne K., Schreiner, Anja, Ven, Peter F. M., Fürst, Dieter O., Marcus, Katrin, Vorgerd, Matthias, Kley, Rudolf A.
Published in Neuropathology and applied neurobiology (01.02.2023)
Published in Neuropathology and applied neurobiology (01.02.2023)
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Journal Article
Myofibrillar instability exacerbated by acute exercise in filaminopathy
Chevessier, Frédéric, Schuld, Julia, Orfanos, Zacharias, Plank, Anne-C, Wolf, Lucie, Maerkens, Alexandra, Unger, Andreas, Schlötzer-Schrehardt, Ursula, Kley, Rudolf A, Von Hörsten, Stephan, Marcus, Katrin, Linke, Wolfgang A, Vorgerd, Matthias, van der Ven, Peter F M, Fürst, Dieter O, Schröder, Rolf
Published in Human molecular genetics (20.12.2015)
Published in Human molecular genetics (20.12.2015)
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Journal Article
A Combined Laser Microdissection and Mass Spectrometry Approach Reveals New Disease Relevant Proteins Accumulating in Aggregates of Filaminopathy Patients
Kley, Rudolf A., Maerkens, Alexandra, Leber, Yvonne, Theis, Verena, Schreiner, Anja, van der Ven, Peter F.M., Uszkoreit, Julian, Stephan, Christian, Eulitz, Stefan, Euler, Nicole, Kirschner, Janbernd, Müller, Klaus, Meyer, Helmut E., Tegenthoff, Martin, Fürst, Dieter O., Vorgerd, Matthias, Müller, Thorsten, Marcus, Katrin
Published in Molecular & cellular proteomics (01.01.2013)
Published in Molecular & cellular proteomics (01.01.2013)
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Journal Article
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
Musumeci, Olimpia, Thieme, Andrea, Claeys, Kristl G, Wenninger, Stephan, Kley, Rudolf A, Kuhn, Marius, Lukacs, Zoltan, Deschauer, Marcus, Gaeta, Michele, Toscano, Antonio, Gläser, Dieter, Schoser, Benedikt
Published in Neuromuscular disorders : NMD (01.09.2015)
Published in Neuromuscular disorders : NMD (01.09.2015)
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Journal Article
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
KLEY, Rudolf A, SERDAROGLU-OFLAZER, Piraye, LEE, Hee S, HÖHFELD, Jörg, DJINOVIC-CARUGO, Kristina, KONG, Kester, TEGENTHOFF, Martin, PETERS, Sören A, STENZEL, Werner, VORGERD, Matthias, GOLDFARB, Lev G, FÜRST, Dieter O, LEBER, Yvonne, ODGEREL, Zagaa, VAN DER VEN, Peter F. M, OLIVE, Montse, FERRER, Isidro, ONIPE, Adekunle, MIHAYLOV, Mariya, BILBAO, Juan M
Published in Brain (London, England : 1878) (01.09.2012)
Published in Brain (London, England : 1878) (01.09.2012)
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Journal Article
Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling
Eulitz, Stefan, Sauer, Florian, Pelissier, Marie-Cecile, Boisguerin, Prisca, Molt, Sibylle, Schuld, Julia, Orfanos, Zacharias, Kley, Rudolf A, Volkmer, Rudolf, Wilmanns, Matthias, Kirfel, Gregor, van der Ven, Peter F M, Fürst, Dieter O
Published in Molecular biology of the cell (15.10.2013)
Published in Molecular biology of the cell (15.10.2013)
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