Browsing by Author "Barrantes, Ramiro"
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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, 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; Berghoff, Martin; Neundörfer, Bernhard; Heuss, Dieter; Dorn, Thomas; Young, Peter; Santolin, Lisa; Uhlmann, Thomas; Meisterernst, Michael; Sereda, Michael; Meyer zu Horste, Gerd; Nave, Klaus-Armin; Reis, André; Rautenstrauss, Bernd (Springer, 2009)Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. All mendelian patterns of inheritance have been described. We identified a homozygous p.A335V mutation in the MED25 gene in an ... -
Late onset autosomal dominant Charcot– Marie–Tooth 2 neuropathy in a Costa Rican family
Berghoff, Corinna; Berghoff, Martin; Leal, Alejandro; Morera, Bernal; Contreras, Carlos; Barrantes, Ramiro; Rautenstrauss, Bernd; Del Valle, Gerardo; Heuss, Dieter (W.S. Maney & Son Ltd., 2009)Objective: To describe the clinical, electrophysiologic and morphologic features of a Costa Rican family with an autosomal dominant inherited Charcot–Marie–Tooth (CMT) neuropathy. Methods: The field study took place in ...