Search Results - "Kley, R. A."

Distinct muscle imaging patterns in myofibrillar myopathies by FISCHER, D, KLEY, R. A, HEYER, C. M, GROSSMANN, A, HUEBNER, A, KRESS, W, REIMANN, J, SCHRÖDER, R, EYMARD, B, FARDEAU, M, UDD, B, GOLDFARB, L, STRACH, K, VORGERD, M, OLIVE, M, MEYER, C, SOMMER, T, EGER, K, ROLFS, A, MEYER, W, POU, A, PRADAS, J

“…To compare muscle imaging findings in different subtypes of myofibrillar myopathies (MFM) in order to identify characteristic patterns of muscle alterations…”
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New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses by 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

“…Myofibrillar myopathies are characterized by progressive muscle weakness and impressive abnormal protein aggregation in muscle fibers. In about 10 % of…”
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Gentamicin treatment in McArdle disease : Failure to correct myophosphorylase deficiency by SCHROERS, A, KLEY, R. A, STACHON, A, HORVATH, R, LOCHMÜLLER, H, ZANGE, J, VORGERD, M

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Creatine treatment in muscle disorders: a meta-analysis of randomised controlled trials by Kley, R A, Tarnopolsky, M A, Vorgerd, M

“…MAIN RESULTS In muscular dystrophies, analysis of pooled data of six trials revealed a significant improvement in maximum voluntary contraction (MVC) of about…”
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Immune-mediated rippling muscle disease by SCHULTE-MATTLER, W. J, KLEY, R. A, ROTHENFUSSER-KORBER, E, BÖHM, S, BRÜNING, T, HACKEMANN, J, STEINBRECHER, A, DÜRING, M. V, VOSS, B, VORGERD, M

“…The authors report a 44-year-old man with rippling muscle disease (RMD) who does not have a mutation in the caveolin-3 gene. Immunohistochemistry of the muscle…”
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Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease) by Rehmann, R., Schlaffke, L., Froeling, M., Kley, R. A., Kühnle, E., De Marées, M., Forsting, J., Rohm, M., Tegenthoff, M., Schmidt-Wilcke, T., Vorgerd, M.

“…Purpose To evaluate differences in diffusion parameters in thigh muscles in patients with glycogen storage disease type V (McArdle disease) using muscle…”
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Creatine for treating muscle disorders by Kley, R A, Vorgerd, M, Tarnopolsky, M A

“…Progressive muscle weakness is a main symptom of most hereditary muscle diseases. Creatine is a popular nutritional supplement among athletes. It improves…”
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Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy by 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.

“…Desminopathy is a subtype of myofibrillar myopathy caused by desmin mutations and characterized by protein aggregates accumulating in muscle fibers. The aim of…”
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A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy by 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

“…Myofibrillar myopathy (MFM) is a human disease that is characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. In an…”
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Myofibrillar myopathies: new developments by Olivé, Montse, Kley, Rudolf A, Goldfarb, Lev G

“…Myofibrillar myopathies (MFMs) are a heterogeneous group of skeletal and cardiac muscle diseases. In this review, we highlight recent discoveries of new genes…”
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Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients by 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

“…Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal…”
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Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis by Preusse, Corinna, Goebel, Hans-H., Pehl, Debora, Rinnenthal, Jan L., Kley, Rudolf A., Allenbach, Yves, Heppner, Frank L., Vorgerd, Matthias, Authier, François Jerôme, Gherardi, Romain, Stenzel, Werner

“…Objective To analyse the paradox of a lack of giant cell formation and fibrosis in chronic lesions of macrophagic myofasciitis (MMF) in comparison with…”
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Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNA super(Lys) by Horvath, R, Kley, R A, Lochmueller, H, Vorgerd, M

“…We describe a patient who presented with parkinsonism associated with the A8344G myoclonus epilepsy, ataxia, and myopathy with ragged red fibers mutation in…”
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G.P.57 Differential proteomic analysis of protein aggregates in desminopathy by Maerkens, A, Kley, R.A, Schreiner, A, Theis, V, Mueller, T, Vorgerd, M, Marcus, K

“…Abstract Desminopathy is a subtype of myofibrillar myopathies (MFM) caused by mutations in DES, the gene encoding desmin. A histopathologic hallmark of the…”
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O.4 Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies by Maerkens, A, Pfeffer, G, Sarkozy, A, Chevessier, F, Uzkoreit, J, Feldkirchner, S, Barresi, R, Bushby, K, Straub, V, Oldfors, A, Marcus, K, Vorgerd, M, Schröder, R, Lochmüller, H, Chinnery, P, Kley, R.A

“…Hereditary myopathy with early respiratory failure (HMERF) caused by A-band TTN mutations shows a clinical and histopathological overlap with myofibrillar…”
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G.O.5 Deciphering protein aggregates in myofibrillar myopathies – A proteomics approach by Kley, R.A, Maerkens, A, Olive, M, Claeys, K.G, Hanisch, F, van der Ven, P.F.M, Fuerst, D.O, Mueller, T, Marcus, K, Vorgerd, M

“…Abstract Myofibrillar myopathies (MFM) encompass a genetic heterogenous group of muscle disorders characterized by formation of intracellular protein…”
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P5.57 Proteomic analysis of protein aggregates in filaminopathy by Kley, R.A, Theis, V, Walde, K, Kirschner, J, Müller, K, Vorgerd, M, Marcus, K

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P5.56 Myofibrillar myopathy associated with filamin C mutations: Refining the phenotype and new insights in pathogenesis by Vorgerd, M, Kley, R.A, Serdaroglu-Oflazer, P, Odgerel, Z, Olive, M, Lee, H.S, Hahn, Y, van der Ven, P.F.M, Höhfeld, J, Kirschner, J, Bilbao, J.M, Goldfarb, L.G, Fürst, D.O

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Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro by Bär, Harald, Fischer, Dirk, Goudeau, Bertrand, Kley, Rudolf A., Clemen, Christoph S., Vicart, Patrick, Herrmann, Harald, Vorgerd, Matthias, Schröder, Rolf

“…Mutations of the human desmin gene on chromosome 2q35 cause a familial or sporadic form of skeletal myopathy frequently associated with cardiac abnormalities…”
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Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3 by Jenne, Dieter E, Kley, Rudi A, Vorgerd, Matthias, Schröder, J Michael, Weis, Joachim, Reimann, Heike, Albrecht, Beate, Nürnberg, Peter, Thiele, Holger, Müller, Clemens R, Meng, Gerhard, Witt, Christian C, Labeit, Siegfried

“…Previous family studies revealed a large number of calpain 3 ( CAPN3 ) mutations that cause recessive forms of limb girdle muscular dystrophy (LGMD2A) with…”
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