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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 ...
Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil
(Springer, 2017)
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been ...
AVPR1A Sequence Variation in Monogamous Owl Monkeys (Aotus azarai) and Its Implications for the Evolution of Platyrrhine Social Behavior
(Springer, 2010-09)
The arginine vasopressin V1a receptor gene (AVPR1A) has been implicated in increased partner preference and pair bonding behavior in mammalian lineages. This observation is of considerable importance for studies of social ...
Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?
(Elsevier B.V., 2006-04-01)
Objective: To study the electroclinical phenotype in 5 patients with large Supernumerary marker chromosome referred as inv dup (15), in an attempt to analyze the electroclinical spectrum in order to determine if the binomial ...
Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?
(Elsevier B.V., 2006-04-01)
Objective: To study the electroclinical phenotype in 5 patients with large Supernumerary marker chromosome referred as inv dup (15), in an attempt to analyze the electroclinical spectrum in order to determine if the binomial ...
Estudo citogenético da região 7q11.23: a síndrome de Williams-Beuren
(Universidade Estadual Paulista (Unesp), 2003)
A síndrome de Williams-Beuren (SWB) é uma rara condição neurogenética causada por microdeleção hemizigótica da região cromossômica 7q11.23. Objetivos: Determinar a freqüência da microdeleção 7q11.23 (gene da elastina), ...
Algoritmo neurogenético com vistas para o planejamento de rotas de robôs móveis autônomos
(Universidade Estadual Paulista (Unesp), 2016-04-27)
Neste trabalho foi desenvolvido um sistema de controle híbrido bioinspirado para o planejamento de rota com vistas para a robótica móvel autônoma, baseado em redes neurais artificiais e algoritmos genéticos. O controlador ...
Optimization and validation of a LIBS method for the determination of macro and micronutrients in sugar cane leaves
(Royal Soc Chemistry, 2010-01-01)
Laser induced breakdown spectrometry (LIBS) was applied for the determination of macro (P, K, Ca, Mg) and micronutrients (B, Cu, Fe, Mn and Zn) in sugar cane leaves, which is one of the most economically important crops ...
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: ...
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: ...