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

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

doi:10.1007/s10048-009-0183-3

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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

Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., et al. (2009). 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. Neurogenetics, 10(4), 275-287. doi:10.1007/s10048-009-0183-3.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-002A-2D82-D Version Permalink: https://hdl.handle.net/21.11116/0000-000D-3C25-7

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Creators:
Leal, Alejandro, Author
Huehne, Kathrin, Author
Bauer, Finn, Author
Sticht, Heinrich, Author
Berger, Philipp, Author
Suter, Ueli, Author
Morera, Bernal, Author
Del Valle, Gerardo, Author
Lupski, James R., Author
Ekici, Arif, Author
Pasutto, Francesca, Author
Endele, Sabine, Author
Barrantes, Ramiro, Author
Berghoff, Corinna, Author
Neundörfer, Bernhard, Author
Heuss, Dieter, Author
Dorn, Thomas, Author
Young, Peter, Author
Santolin, Lisa, Author
Uhlmann, Thomas, Author
Meisterernst, Michael, AuthorSereda, Michael¹, Author Meyer zu Hörste, Gerd¹, Author Nave, Klaus-Armin², Author Reis, André, AuthorRautenstrauss, Bernd, Author more..

Affiliations:
1Molecular and translational neurology, Neurogenetics, Max Planck Institute of Experimental Medicine, Max Planck Society, ou_2173667
2Neurogenetics, Max Planck Institute of Experimental Medicine, Max Planck Society, ou_2173664

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Free keywords: CMT; HMSN; MED25; PMP22; CMT2B2; ACID1; ARC92

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Language(s): eng - English

Dates: Date issued: 2009-10

Publication Status: Issued

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Rev. Type: Peer

Identifiers: DOI: 10.1007/s10048-009-0183-3

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Title: Neurogenetics

Other : Neurogenetics

Source Genre: Journal

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Publ. Info: Oxford, UK : Oxford University Press

Pages: - Volume / Issue: 10 (4) Sequence Number: - Start / End Page: 275 - 287 Identifier: ISSN: 1364-6745
CoNE: https://pure.mpg.de/cone/journals/resource/954927741865