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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models |
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| Authors: | Alejandro Leal Kathrin Huehne Finn Bauer Heinrich Sticht Philipp Berger Ueli Suter Bernal Morera Gerardo Del Valle James R. Lupski Arif Ekici Francesca Pasutto Sabine Endele Ramiro Barrantes Corinna Berghoff Martin Berghoff Bernhard Neundörfer Dieter Heuss Thomas Dorn Peter Young Lisa Santolin Thomas Uhlmann Michael Meisterernst Michael Werner Sereda Ruth Martha Stassart Gerd Meyer zu Horste Klaus-Armin Nave André Reis Bernd Rautenstrauss |
| Affiliation: | 1. Institute of Human Genetics, Friedrich-Alexander University, Schwabachanlage 10, 91054, Erlangen, Germany 2. School of Biology and Institute for Health Research (INISA), University of Costa Rica, San José, Costa Rica 3. School of Biology and Neuroscience Research Program, University of Costa Rica, San Jose, Costa Rica 4. Institute of Biochemistry, Friedrich-Alexander University, Emil-Fischer-Zentrum, Fahrstra?e 17, 91054, Erlangen, Germany 5. HPM-II E39, Institute of Cell Biology, ETH H?nggerberg, Swiss Federal Institute of Technology (ETH), 8093, Zürich, Switzerland 6. School of Biological Sciences, Universidad Nacional, Heredia, Costa Rica 7. Laboratory of Neurology, Neurolab, San José, Costa Rica 8. Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 601B, Houston, TX, 77030, USA 9. School of Biology, University of Costa Rica, San Jose, Costa Rica 10. Department of Neurology, University of Münster, Albert-Schweitzer-Str. 33, 48129, Münster, Germany 11. Klinikum der Justus-Liebig-Universit?t, 35385, Gie?en, Germany 12. Department of Neurology, Friedrich-Alexander University, Schwabachanlage 6, 91054, Erlangen, Germany 13. Schweizerisches Epilepsie-Zentrum, Bleulerstr. 60, 8008, Zurich, Switzerland 14. Gene Expression, Institute of Immunology, GSF-National Research Center for Environment and Health, Marchioninistr. 25, 81375, Munich, Germany 15. Department of Neurogenetics, Max-Planck-Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, G?ttingen, Germany 16. Medizinisch Genetisches Zentrum, Bayerstrasse 3-5, 80335, Munich, Germany |
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