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Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis
(B M J Publishing Group, 2013-09-07)
We described a case of a patient with autosomal dominant progressive external ophthalmoplegia (PEO) who presented with the acute onset dysphagia, quadriparesis, ptosis and respiratory insufficiency following a cardiac ...
Neurociencias y Psicologíaen Costa Rica: Programa de Investigación en Neurociencias
(2012)
El presente artículo es una reseña histórica del Programa de Investigación en Neurociencias(PIN) de la Universidad de Costa Rica, que fue creado en el año 1999. Actualmente,está organizado en tres áreas de investigación: ...
Autosomal recessive ataxias: 20 types, and counting
(Academia Brasileira de Neurologia - ABNEURO, 2009)
More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics. Currently this group of diseases contains more than 20 clinical ...
A expressão neurológica e o diagnóstico genético nas síndromes de Angelman, de Rett e do X-Frágil
(Sociedade Brasileira de Pediatria, 2002-08-01)
Objective: to discuss clinical and electroencephalographic aspects and the genetic mechanisms of three neurogenic syndromes that can be related to nosologic entities in the heterogenic pathological group presenting symptoms ...