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Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
(Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It
is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Here we confirm ...
Individual differences in the immobility behavior in juvenile and adult rats are associated with monoaminergic neurotransmission and with the expression of corticotropin-releasing factor receptor 1 in the nucleus accumbens
(Behavioural Brain Research, Vol. 252. pp. 77-87, 2013)
The study of individual differences provides an important methodological approach to analyze the
neurobehavioral spectrum of a given cohort in order to understand brain function and disease. Based
on immobility time in ...
Características clínicas y genético-moleculares de la enfermedad de Huntington en pacientes costarricenses: experiencia de 14 años de diagnóstico molecular
Clinical, genetic and molecular characteristics of Huntington's disease in Costa Rican patients: experience of 14 years of molecular diagnosis
(2018-11-13)
Introducción: La enfermedad de Huntington (HD) es un trastorno neurodegenerativo hereditario, caracterizado por signos y síntomas motores, cognitivos y neuropsiquiátricos, causado por una expansión del trinucleótido ...
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
(2016)
Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed ...
Diagnóstico molecular de ataxias espinocerebelosas: reporte del primer caso de ataxia espinocerebelosa tipo 3 (SCA3) en Costa Rica confirmado por análisis molecular
Molecular diagnosis of spinocerebellar ataxias: report of the first case of spinocerebellar ataxia type 3 (SCA3) in Costa Rica confirmed by molecular analysis
(2017)
Antecedentes. Las ataxias hereditarias son un grupo de trastornos
genéticos caracterizados por descoordinación progresiva de la
marcha, a menudo asociada con una pobre coordinación de las
manos, el habla y los movimientos ...