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          Institute: MPI für experimentelle Medizin     Collection: Neurogenetics     Display Documents



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ID: 428527.0, MPI für experimentelle Medizin / Neurogenetics
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
Authors:Leal, Alejandro; Huehne, Kathrin; Bauer, Finn; Sticht, Heinrich; Berger, Philipp; Suter, Ueli; Morera, Bernal; Del Valle, Gerardo; Lupski, James R.; Ekici, Arif; Pasutto, Francesca; Endele, Sabine; Barrantes, Ramiro; Berghoff, Corinna; Neundörfer, Bernhard; Heuss, Dieter; Dorn, Thomas; Young, Peter; Santolin, Lisa; Uhlmann, Thomas; Meisterernst, Michael; Sereda, Michael; Meyer zu Hörste, Gerd; Nave, Klaus-Armin; Reis, André; Rautenstrauss, Bernd
Language:English
Date of Publication (YYYY-MM-DD):2009-10
Title of Journal:Neurogenetics
Volume:10
Issue / Number:4
Start Page:275
End Page:287
Review Status:Peer-review
Audience:Experts Only
Free Keywords:CMT; HMSN; MED25; PMP22; CMT2B2; ACID1; ARC92
External Publication Status:published
Document Type:Article
Communicated by:Klaus-Armin Nave
Affiliations:MPI für experimentelle Medizin/Neurogenetics
External Affiliations:Institute of Human Genetics, Friedrich-Alexander University, Schwabachanlage 10, 91054 Erlangen, German; School of Biology and Neuroscience for Health Research (INISA), University of Costa Rica, San José, Costa Rica; Institute of Biochemistry, Friedrich-Alexander University, Emil-Fischer-Zentrum, Fahrstraße 17, 91054 Erlangen, Germany; HPM-II E39, Institute of Cell Biology, ETH Hönggerberg, Swiss Federal Institute of Technology (ETH), 8093 Zürich, Switzerland; School of Biological Sciences, Universidad Nacional, Heredia, Costa Rica; Laboratory of Neurology, Neurolab, San José, Costa Rica; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 601B, Houston,TX 77030, USA; Department of Neurology, University of Münster, Albert-Schweitzer-Str. 33, 48129 Münster, Germany; Klinikum der Justus-Liebig-Universität, 35385 Gießen, Germany; Department of Neurology, Friedrich-Alexander-University, Schwabachanlage 6, 91054 Erlangen, Germany; Schweizerisches Epilepsie-Zentrum, Bleulerstr. 60, 8008 Zürich, Switzerland; Gene Expression, Institute of Immunology, GSF-National Research Center for Environment and Health, Marchioninistr.25, 81375 Munich, Germany; Medizinisch-Genetisches Zentrum, Bayerstrasse 3-5, 80335 Munich, Germany
Identifiers:DOI:10.1007/s10048-009-0183-3 [epub 2009-03-17]
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