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Genetic analysis of hereditary ataxias in Peru identifies SCA10 families with incomplete penetrance
(Springer, 2020)
Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ...
ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
(Springer, 2019)
Spinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higher ...
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations
(Wiley-liss, div John Wiley & Sons Inc., 2021-02)
Background: We assessed the clinimetric properties of ataxia rating scales and functional tests, and made recommendations regarding their use. Methods: A systematic literature search was conducted to identify the instruments ...
Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population
(Springer, 2020)
Spinocerebellar ataxia subtypes 1, 3, and 6 (SCA1, MJD/SCA3, and SCA6) are among the most prevalent autosomal dominant cerebellar ataxias worldwide, but their relative frequencies in Peru are low. Frequency of large normal ...
Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review
(John Wiley & Sons Inc, 2014-09)
Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the most frequent ...
Curva de Crescimento Usando Modelo Misto: Uma Aplicação na Progressão da Doença de Machado-Joseph
(HCPA/FAMED/UFRGS, 2009)
Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus
(Academic Press Inc Elsevier Science, 2019-01)
The association of WW domain-containing oxidoreductase WWOX gene loss of function with central nervous system (CNS) related pathologies is well documented. These include spinocerebellar ataxia, epilepsy and mental retardation ...
Monte Carlo dropout for uncertainty estimation and motor imagery classification
(Corporación Universidad de la Costa, 2021)