Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity von MORALES, Fernando, COUTO, Jillian M, SITTENFELD, Mauricio, ASHIZAWA, Tetsuo, WILCOX, Alison, WILCOX, Douglas E, MONCKTON, Darren G, HIGHAM, Catherine F, HOGG, Grant, CUENCA, Patricia, BRAIDA, Claudia, WILSON, Richard H, ADAM, Berit, VALLE, Gerardo Del, BRIAN, Roberto

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Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1 von Morales, Fernando, Vásquez, Melissa, Cuenca, Patricia, Campos, Domingo, Santamaría, Carolina, Del Valle, Gerardo, Brian, Roberto, Sittenfeld, Mauricio, Monckton, Darren G

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Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene von Morales, Fernando, Cuenca, Patricia, del Valle, Gerardo, Vásquez, Melissa, Brian, Roberto, Sittenfeld, Mauricio, Johnson, Keith, Lin, Xi, Ashizawa, Tetsuo

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Caracterización de los pacientes con epilepsia refractaria de un hospital de tercer nivel en Costa Rica von Sanabria Castro, Alfredo, Henríquez Varela, Freddy, Lara Maier, Susana, Monge Bonilla, Cecilia, Sittenfeld Appel, Mauricio

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Characteristics of patients with refractory epilepsy attended in a tertiary referral center in Costa Rica von Sanabria-Castro, A, Henriquez-Varela, F, Lara-Maier, S, Monge-Bonilla, C, Sittenfeld-Appel, M

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Gene symbol: CLCN1. Disease: Myotonia congenita von Morales, Fernando, Cuenca, Patricia, del Valle, Gerardo, Vásquez, Melissa, Brian, Roberto, Sittenfeld, Mauricio, Johnson, Keith, Lin, Xi, Ashizawa, Tetsuo

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Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive von Morales, Fernando, Cuenca, Patricia, del Valle, Gerardo, Vásquez, Melissa, Brian, Roberto, Sittenfeld, Mauricio, Johnson, Keith, Lin, Xi, Ashizawa, Tetsuo

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Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene von Morales, Fernando, Cuenca, Patricia, Del Valle, Gerardo, Vásquez, Melissa, Brian, Roberto, Sittenfeld, Mauricio, Johnson, Keith, Lin, Xi, Ashizawa, Tetsuo

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Diagnóstico molecular de la Distrofia Miotónica (DM) en Costa Rica von Morales Montero, Fernando, Cuenca Berger, Patricia, Brian Gago, Roberto, Sittenfeld Appel, Mauricio, Del Valle Carazo, Gerado

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Diagnóstico molecular de la Distrofia Miotónica (DM) en Costa Rica von Fernando Morales Montero, Patricia Cuenca Berger, Roberto Brian Gago, Mauricio Sittenfeld Appel, Gerardo del Valle Carazo

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Estudio intergeneracional de la mutación que causa la Distrofia MIotónica Tipo 1 en Costa Rica von Morales Montero, Fernando, Cuenca Berger, Patricia, Brian Gago, Roberto, Sittenfeld Appel, Mauricio, del Valle Carazo, Gerardo

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