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Number of items: 7.

Tsagkas, Charidimos; Altermatt, Anna; Bonati, Ulrike; Pezold, Simon; Reinhard, Julia; Amann, Michael; Cattin, Philippe; Wuerfel, Jens; Fischer, Dirk; Parmar, Katrin; Fischmann, Arne (2018). Reliable and fast volumetry of the lumbar spinal cord using cord image analyser (Cordial). European Radiology, 28(11):4488-4495.

Dohrn, Maike F; Glöckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hörtnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Jörg B; Claeys, Kristl G; Gess, Burkhard; Katona, Istvan; Ferbert, Andreas; Vittore, Debora; Grimm, Alexander; Wolking, Stefan; Schöls, Ludger; Lerche, Holger; Korenke, G Christoph; Fischer, Dirk; Schrank, Bertold; Kotzaeridou, Urania; Kurlemann, Gerhard; Dräger, Bianca; Schirmacher, Anja; et al (2017). Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. Journal of Neurochemistry, 143(5):507-522.

Bonati, Ulrike; Hafner, Patricia; Schädelin, Sabine; Schmid, Maurice; Naduvilekoot Devasia, Arjith; Schroeder, Jonas; Zuesli, Stephanie; Pohlman, Urs; Neuhaus, Cornelia; Klein, Andrea; Sinnreich, Michael; Haas, Tanja; Gloor, Monika; Bieri, Oliver; Fischmann, Arne; Fischer, Dirk (2015). Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy. Neuromuscular Disorders : NMD, 25(9):679-685.

Petersen, Jens A; Kuntzer, Thierry; Fischer, Dirk; von der Hagen, Maja; Huebner, Angela; Kana, Veronika; Lobrinus, Johannes A; Kress, Wolfram; Rushing, Elisabeth J; Sinnreich, Michael; Jung, Hans H (2015). Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. BMC Neurology, 15(182):online.

Martin, Florence; Kana, Veronika; Mori, Andrea Capone; Fischer, Dirk; Parkin, Nicolas; Boltshauser, Eugen; Rushing, Elisabeth Jane; Klein, Andrea (2014). Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy. European Journal of Pediatrics, 173(12):1691-1694.

Auer-Grumbach, Michaela; Bode, Heiko; Pieber, Thomas R; Schabhüttl, Maria; Fischer, Dirk; Seidl, Rainer; Graf, Elisabeth; Wieland, Thomas; Schuh, Reinhard; Vacariu, Gerda; Grill, Franz; Timmerman, Vincent; Strom, Tim M; Hornemann, Thorsten (2013). Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. European Journal of Medical Genetics, 56(5):266-269.

Fischmann, Arne; Hafner, Patricia; Gloor, Monika; Schmid, Maurice; Klein, Andrea; Pohlman, Urs; Waltz, Tanja; Gonzalez, Rocio; Haas, Tanja; Bieri, Oliver; Fischer, Dirk (2013). Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy. Journal of Neurology, 260(4):969-974.

This list was generated on Wed Sep 18 23:56:57 2019 CEST.