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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Authors: Endele, Sabine; Rosenberger, Georg; Geider, Kirsten; Popp, Bernt; Tamer, Ceyhun; Stefanova, Irina; Milh, Mathieu; Kortüm, Fanny; Fritsch, Angela; Pientka, Friederike K; Hellenbroich, Yorck; Kalscheuer, Vera M; Kohlhase, Jürgen; Moog, Ute; Rappold, Gudrun; Rauch, Anita; Ropers, Hans-Hilger; von Spiczak, Sarah; Tönnies, Holger; Villeneuve, Nathalie; Villard, Laurent; Zabel, Bernhard; Zenker, Martin; Laube, Bodo; Reis, André; Wieczorek, Dagmar; Van Maldergem, Lionel; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2010-10-03
Title of Journal: Nature Genetics.
Volume: 42
Issue / Number: 11
Start Page: 1021
End Page: 1026
Document Type: Article
ID: 532578.0
 
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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
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
Date of Publication (YYYY-MM-DD): 2009-10
Title of Journal: Neurogenetics
Volume: 10
Issue / Number: 4
Start Page: 275
End Page: 287
Document Type: Article
ID: 428527.0
 
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Entries: 1-2  
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