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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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Year: 2009
Type: article
Source: Neurogenetics
DOI: 10.1007/s10048-009-0213-1
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
Institutions: Friedrich-Alexander-Universität Erlangen-Nürnberg, ETH Zurich, Universidad Nacional, Baylor College of Medicine, Universidad de Costa Rica, University of Münster, Justus-Liebig-Universität Gießen, Swiss Epilepsy Center, Institut für Immunologie, Max Planck Institute of Experimental Medicine, Medical Genetics Center
Language: English

Topic: Hereditary Neurological Disorders
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: hybrid
Estimated APC paid: $4,590
OpenAlex ID: W4241795774
FWCI: 0.55
Cites:
Cited by: 15
Related to: 10
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