Search Results - "Almaguer Mederos, LE"
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The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from
Published in Clinical genetics (01-06-2013)“…Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2), health professionals in Cuba developed a program for the predictive…”
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Estimation of survival in Spinocerebellar Ataxia type 2 Cuban patients
Published in Clinical genetics (01-03-2013)Get full text
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Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis
Published in Clinical genetics (01-08-2010)“…Almaguer‐Mederosa LE, Falcón NS, Almira YR, Zaldivar YG, Almarales DC, Góngora EM, Herrera MP, Batallán KE, Armiñán RR, Manresa MV, Cruz GS, Laffita‐Mesa J,…”
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Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2
Published in Journal of the neurological sciences (15-01-2017)“…Spinocerebellar ataxia type 2 is a neurodegenerative disorder caused by a CAG repeat expansion in ATXN2 gene. There is high clinical variability among affected…”
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Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2
Published in Archives of medical research (01-04-2017)“…Spinocerebellar ataxia type 2 (SCA2) is part of a group of at least nine dominantly inherited disorders characterized by progressive degeneration of specific…”
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Role of glutathione S-transferases in the spinocerebellar ataxia type 2 clinical phenotype
Published in Journal of the neurological sciences (15-06-2014)“…Abstract Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative and incurable hereditary disorder caused by a CAG repeat expansion mutation on ATXN2 gene…”
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TheCuban program for predictive testing of SCA2: 11years and 768 individuals to learn from
Published in Clinical genetics (01-06-2013)“…Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2), health professionals in Cuba developed a program for the predictive…”
Get full text
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Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature
Published in Clinical genetics (01-07-2014)Get full text
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Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2
Published in Clinical genetics (01-12-2008)Get full text
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Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2
Published in Clinical genetics (01-10-2018)“…Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a cytosine‐adenine‐guanine…”
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