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  1. Stendel, Claudia; Roos, Andreas; Deconinck, Tine; Pereira, Jorge; Castagner, François; Niemann, Axel; Kirschner, Janbernd; Korinthenberg, Rudolf; Ketelsen, Uwe-Peter; Battaloglu, Esra; Parman, Yesim; Nicholson, Garth; Ouvrier, Robert; Seeger, Jürgen; De Jonghe, Peter; Weis, Joachim; Krüttgen, Alexander; Rudnik-Schöneborn, Sabine; Bergmann, Carsten; Suter, Ueli; Zerres, Klaus; Timmerman, Vincent; Relvas, João B.; Senderek, Jan

    Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

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    Elsevier BV, 2007

    Published in: The American Journal of Human Genetics

  2. Grohmann, Katja; Varon, Raymonda; Stolz, Piroschka; Schuelke, Markus; Janetzki, Catrin; Bertini, Enrico; Bushby, Kate; Muntoni, Francesco; Ouvrier, Robert; Van Maldergem, Lionel; Goemans, Nathalie M. L. A.; Lochmüller, Hanns; Eichholz, Stephan; Adams, Coleen; Bosch, Friedrich; Grattan‐Smith, Padraic; Navarro, Carmen; Neitzel, Heidemarie; Polster, Tilman; Topaloğlu, Haluk; Steglich, Christina; Guenther, Ulf P.; Zerres, Klaus; Rudnik‐Schöneborn, Sabine;

    Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

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    Wiley, 2003

    Published in: Annals of Neurology

  3. Grohmann, Katja; Schuelke, Markus; Diers, Alexander; Hoffmann, Katrin; Lucke, Barbara; Adams, Coleen; Bertini, Enrico; Leonhardt-Horti, Hajnalka; Muntoni, Francesco; Ouvrier, Robert; Pfeufer, Arne; Rossi, Rainer; Van Maldergem, Lionel; Wilmshurst, Jo M.; Wienker, Thomas F.; Sendtner, Michael; Rudnik-Schöneborn, Sabine; Zerres, Klaus; Hübner, Christoph

    Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

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    Springer Science and Business Media LLC, 2001

    Published in: Nature Genetics