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Items where contributor is "Fischer, Dirk"

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2011

Hilbert, P. and Frank, S. and Raheem, O. and Suominen, T. and Penttilä, S. and Udd, B. and Fischer, D.. (2011) Normal muscle MRI does not preclude increased connective tissue in muscle of recessive myotonia congenita. Acta neurologica scandinavica, 124. pp. 146-147.

Papi?, Lea and Fischer, Dirk and Trajanoski, Slave and Höftberger, Romana and Fischer, Carina and Ströbel, Thomas and Schmidt, Wolfgang M. and Bittner, Reginald E. and Schabhüttl, Maria and Gruber, Karin and Pieber, Thomas R. and Janecke, Andreas R. and Auer-Grumbach, Michaela. (2011) SNP-array based whole genome homozygosity mapping : a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients. European journal of medical genetics, Vol. 54, H. 3. S. 214-219.

Quijano-Roy, Susana and Carlier, Robert Y. and Fischer, Dirk. (2011) Muscle imaging in congenital myopathies. Seminars in pediatric neurology, Vol. 18, H. 4. S. 221-229.

Treves, S. and Vukcevic, M. and Jeannet, P. Y. and Levano, S. and Girard, T. and Urwyler, A. and Fischer, D. and Voit, T. and Jungbluth, H. and Lillis, S. and Muntoni, F. and Quinlivan, R. and Sarkozy, A. and Bushby, K. and Zorzato, F.. (2011) Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Human Molecular Genetics, 20 (3). pp. 589-600.

Gloor, Monika and Fasler, Susanne and Fischmann, Arne and Haas, Tanja and Bieri, Oliver and Heinimann, Karl and Wetzel, Stephan G. and Scheffler, Klaus and Fischer, Dirk. (2011) Quantification of fat infiltration in oculopharyngeal muscular dystrophy : comparison of three MR imaging methods. Journal of magnetic resonance imaging, Vol. 33, H. 1. S. 203-210.

Fischmann, Arne and Gloor, Monika and Fasler, Susanne and Haas, Tanja and Rodoni Wetzel, Rachele and Bieri, Oliver and Wetzel, Stephan and Heinimann, Karl and Scheffler, Klaus and Fischer, Dirk. (2011) Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy. Journal of neurology, Vol. 258, H. 7. S. 1333-1340.

Ullrich, N. D. and Fischer, D. and Kornblum, C. and Walter, M. C. and Niggli, E. and Zorzato, F. and Treves, S.. (2011) Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Human Mutation, 32 (3). pp. 309-317.

2010

Escher, Claudia and Lochmüller, Hanns and Fischer, Dirk and Frank, Stephan and Reimann, Jens and Walter, Maggie C. and Ehrat, Markus and Ruegg, Markus A. and Gygax, Daniel. (2010) Reverse protein arrays as novel approach for protein quantification in muscular dystrophies. Neuromuscular disorders, Vol. 20. S. 302-309.

Kennerson, Marina L. and Nicholson, Garth A. and Kaler, Stephen G. and Kowalski, Bartosz and Mercer, Julian F. B. and Tang, Jingrong and Llanos, Roxana M. and Chu, Shannon and Takata, Reinaldo I. and Speck-Martins, Carlos E. and Baets, Jonathan and Almeida-Souza, Leonardo and Fischer, Dirk and Timmerman, Vincent and Taylor, Philip E. and Scherer, Steven S. and Ferguson, Toby A. and Bird, Thomas D. and De Jonghe, Peter and Feely, Shawna M. E. and Shy, Michael E. and Garbern, James Y.. (2010) Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. American journal of human genetics, Vol. 86, H. 3. S. 343-352.

Wattjes, Mike P. and Kley, Rudolf A. and Fischer, Dirk. (2010) Neuromuscular imaging in inherited muscle diseases. European radiology, Vol. 20, H. 10. S. 2447-2460.

2009

Clemen, Christoph S. and Fischer, Dirk and Reimann, Jens and Eichinger, Ludwig and Müller, Clemens R. and Müller, Harald D. and Goebel, Hans H. and Schröder, Rolf. (2009) How much mutant protein is needed to cause a protein aggregate myopathy in vivo? : Lessons from an exceptional desminopathy. Human mutation : variations, databases, and diseases, Vol. 30 , E490-9.

2008

Strach, K. and Sommer, T. and Grohé, C. and Meyer, C. and Fischer, D. and Walter, M. C. and Vorgerd, M. and Reilich, P. and Bär, H. and Reimann, J. and Reuner, U. and Germing, A. and Goebel, H. H. and Lochmüller, H. and Wintersperger, B. and Schröder, R.. (2008) Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscular disorders, Vol. 18, H. 6. S. 475-482.

Dierick, I. and Baets, J. and Irobi, J. and Jacobs, A. and De Vriendt, E. and Deconinck, T. and Merlini, L. and Van den Bergh, P. and Rasic, V. M. and Robberecht, W. and Fischer, D. and Morales, R. J. and Mitrovic, Z. and Seeman, P. and Mazanec, R. and Kochanski, A. and Jordanova, A. and Auer-Grumbach, M. and Helderman-van den Enden, A. T. and Wokke, J. H. and Nelis, E. and De Jonghe, P. and Timmerman, V.. (2008) Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies : a genotype-phenotype correlation study. Brain, Vol. 131, H. 5. S. 1217-1227.