Diagnóstico molecular de la Distrofia Miotónica (DM) en Costa Rica

by Fernando Morales Montero, Patricia Cuenca Berger, Roberto Brian Gago, Mauricio Sittenfeld Appel, Gerardo del Valle Carazo
Published 2001-10-01

Diagnóstico molecular de la Distrofia Miotónica (DM) en Costa Rica

by Fernando Morales Montero, Patricia Cuenca Berger, Roberto Brian Gago, Mauricio Sittenfeld Appel, Gerardo del Valle Carazo
Published 2001-10-01

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

by Alejandro Leal, Corinna Berghoff, Martin Berghoff, Melissa Rojas-Araya, Carolina Ortiz, Dieter Heuss, Gerardo Del Valle, Bernd Rautenstrauss
Published 2014-12-01

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

by Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian, Mauricio Sittenfeld, Keith Johnson, Xi Lin, Tetsuo Ashizawa
Published 2008-03-01

Functional and Structural Characterization of ClC-1 and Na_v1.4 Channels Resulting from <i>CLCN1</i> and <i>SCN4A</i> Mutations Identified alone and Coexisting in Myotoni...

by Oscar Brenes, Raffaella Barbieri, Melissa Vásquez, Rebeca Vindas-Smith, Jeffrey Roig, Adarli Romero, Gerardo del Valle, Luis Bermúdez-Guzmán, Sara Bertelli, Michael Pusch, Fernando Morales
Published 2021-02-01