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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Full Title: Neurogenetics
Abbreviation: Neurogenetics
Country: Unknown
Publisher: Unknown
Language: N/A
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"We want to thank the Costa Rican patients for their cooperation. This research was funded by the DFG, the Boehringer Ingelheim foundation, the DGM, ELAN funds, and the Association Francaise contre les myopathies (AFN). Support from the University of Costa Rica is gratefully acknowledged (project 742-98-241). AL was a DAAD Ph. D. fellow. U.S. is supported by the Swiss National Science Foundation and NCCR Neural Plasticity and Repair. We thank Claudia Preller for excellent technical support and Heike Meiselbach for help with Fig. 3c."
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Last Updated: Aug 05, 2025