Publications by authors named "Roberto Brian"

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Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.
Fernando Morales, Melissa Vásquez, Patricia Cuenca, Domingo Campos, Carolina Santamaría, Roberto Brian

Eur J Hum Genet· May 2015

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Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.
Fernando Morales, Jillian M Couto, Catherine F Higham, Grant Hogg, Patricia Cuenca, Roberto Brian

Hum Mol Genet· August 2012

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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.
Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian

Rev Biol Trop· March 2008

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Gene symbol: CLCN1. Disease: Myotonia congenita.
Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian

Hum Genet· February 2008

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Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian

Hum Genet· November 2007

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