Affiliation: Ciudad de La Habana
- Uncommon features in Cuban families affected with Friedreich ataxiaTania Cruz-Mariño
Center of Medical Genetics, Holguin, Cuba
Neurosci Lett 472:85-9. 2010..The origin of the expanded gene and the GAA repeat size in the normal population are issues to be further investigated. The molecular diagnosis of Friedreich ataxia is now established in Cuba...
- Ethical dilemmas in genetic testing: examples from the Cuban program for predictive diagnosis of hereditary ataxiasTania Cruz Mariño
Predictive Genetics Department, Center for Research and Rehabilitation of Hereditary Ataxias CIRAH, Holguin, Cuba
J Genet Couns 20:241-8. 2011....
- Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experienceTania Cruz-Mariño
Center for the Research and Rehabilitation of Hereditary Ataxias, Holguin, Cuba
J Community Genet 4:451-60. 2013..Future research is needed to evaluate the long-term impact of both the predictive testing in unborn children and the selection of other reproductive options by the at-risk couples. ..
- SCA2 predictive testing in Cuba: challenging concepts and protocol evolutionTania Cruz-Mariño
Predictive Genetics Department, Center for the Research and Rehabilitation of Hereditary Ataxias, Holguin, Cuba
J Community Genet 6:265-73. 2015....
- Large normal and intermediate alleles in the context of SCA2 prenatal diagnosisTania Cruz-Mariño
Predictive Genetics Department, Center for the Research and Rehabilitation of Hereditary Ataxias, Reparto Edecio Pérez, Carretera Vía Habana, Holguin, Cuba, 80100
J Genet Couns 23:89-96. 2014....
- A comprehensive review of spinocerebellar ataxia type 2 in CubaLuis Velázquez-Perez
Centro para la Investigación y Rehabilitación de Ataxias Hereditarias, 80100, Holguin, Cuba
Cerebellum 10:184-98. 2011..These findings provide guidelines, from a Cuban viewpoint, for the clinical management of the disease, its diagnosis, genetic counseling, and therapeutical options through rehabilitative therapy and/or pharmacological options...
- Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 allelesJose Miguel Laffita-Mesa
Laboratory of Molecular Neurobiology, Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguin, Cuba mails
Eur J Hum Genet 20:41-9. 2012..Our study also includes related genotypic, genealogical and haplotypic data and provides substantial evidence with regard to the role of large and intermediate alleles in the generation of pathological EAs...
- Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the diseaseLuis Velázquez-Perez
Center for the Research and Rehabilitation of Hereditary Ataxias, Libertad Street 26, Holguin, 80100, Cuba
Cerebellum 13:568-79. 2014....