Items where Author is "Fischer, Dirk"

2011

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

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. pp. 1333-1340.

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. pp. 203-210.

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. pp. 214-219.

2010

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. pp. 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. pp. 2447-2460.

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, 20. pp. 302-309.

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.