Search Results - "Almaguer‐Gotay, D."

Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2 by Almaguer‐Mederos, L.E., Mesa, J.M.L., González‐Zaldívar, Y., Almaguer‐Gotay, D., Cuello‐Almarales, D., Aguilera‐Rodríguez, R., Falcón, N.S., Gispert, S., Auburger, G., Velázquez‐Pérez, L.

“…Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a cytosine‐adenine‐guanine…”
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Role of glutathione S-transferases in the spinocerebellar ataxia type 2 clinical phenotype by Almaguer-Gotay, D, Almaguer-Mederos, L.E, Aguilera-Rodríguez, R, Estupiñán-Rodríguez, A, González-Zaldivar, Y, Cuello-Almarales, D, Laffita-Mesa, J.M, Vázquez-Mojena, Y

“…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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Estimation of survival in Spinocerebellar Ataxia type 2 Cuban patients by Almaguer-Mederos, LE, Aguilera Rodríguez, R, González Zaldivar, Y, Almaguer Gotay, D, Cuello Almarales, D, Laffita Mesa, J, Vázquez Mojena, Y, Zayas Feria, P, Auburger, G, Gispert, S, Velásquez Pérez, L

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3.075 UNEXPANDED AND INTERMEDIATE POLYMORPHISMS AT SCA2 LOCUS (ATXN2) IN THE CUBAN POPULATION: EVIDENCES ABOUT THE ORIGIN OF EXPANDED ALLELES by Laffita, J, PeñaVelázquez-Pérez, L.C, Santos Falcón, N, Cruz-Mariño, T, González-Zaldívar, Y, Mojena, Y. Vázquez, Almaguer-Gotay, D, Mederos, L.E. Almaguer, Labrada, R. Rodríguez

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Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2 by Almaguer-Mederos, Luis E., Almaguer-Gotay, Dennis, Aguilera-Rodríguez, Raúl, González-Zaldívar, Yanetza, Cuello-Almarales, Dany, Laffita-Mesa, José, Vázquez-Mojena, Yaimé, Zayas-Feria, Pedro, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis, MacLeod, Patrick

“…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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Assessment of thyroid function in spinocerebellar Ataxia type 2 Cuban patients by Mederos, L. Almaguer, Rodríguez, R. Aguilera, Anido, Y. Cutié, Sosa, A. Álvarez, Gotay, D. Almaguer, Almarales, D. Cuello

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Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2 by Cuello-Almarales, Dany A., Almaguer-Mederos, Luis E., Vázquez-Mojena, Yaimé, Almaguer-Gotay, Dennis, Zayas-Feria, Pedro, Laffita-Mesa, José M., González-Zaldívar, Yanetza, Aguilera-Rodríguez, Raúl, Rodríguez-Estupiñán, Annelié, Velázquez-Pérez, Luis

“…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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Intergenerational CAG repeat instability and mutational flow in Cuban families with spinocerebellar ataxia type 2 by Mederos, L. Almaguer, Mesa, J. Laffita, Zaldivar, Y. González, Almarales, D. Cuello, Gotay, D. Almaguer, Mojena, Y. Vázquez, Feria, P. Zayas, Sánchez, G, Pérez, L. Velázquez

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Glutathione S-transferase omega 2 influence the clinical phenotype of spinocerebellar ataxia type 2 by Mederos, L. Almaguer, Rodríguez, R. Aguilera, Gotay, D. Almaguer, Zaldivar, Y. González, Almarales, D. Cuello, Mesa, J. Laffita, Mojena, Y. Vázquez, Feria, P. Zayas, Pérez, L. Velázquez, MacLeod, P

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Age at onset in spinocerebellar ataxia type 2 Cuban patients is affected by junctophilin-3 CTG repeat polymorphism by Mederos, L.E. Almaguer, Zaldívar, Y. Gonzáles, Almarales, D. Cuello, Gotay, D. Almaguer, Mesa, J. Laffita, Santiago, J. Aguiar, Aguilera, R, Cruz, G. Sánchez, Auburger, George, Gispert, Susana, Pérez, L. Velázquez

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Prevalence of antigliadin antibodies in spinocerebellar ataxia type 2 Cuban patients by Mederos, L.E. Almaguer, Almira, Y. Rodríguez, Góngora, E. Martínes, Gotay, D. Almaguer, Zaldívar, Y. González, Pupo, R. Echevarria, Cruz, G. Sánchez, Brown, J. Monte, Almarales, D. Cuello, Pérez, L. Velázquez

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3.073 EPIGENETIC DNA-METHYLATION IN THE CORE ATAXIN-2 GENE PROMOTER: NOVEL PHYSIOLOGICAL AND PATHOLOGICAL IMPLICATIONS by Laffita, J, Bauer, P.O, Kourí, V, PeñaSerrano, L, Roskams, J, Gotay, D. Almaguer, Santiago, J. Aguiar, González-Zaldívar, Y, Mederos, L.E. Almaguer, Cuello-Almarales, D.A, Brown, J.C. Montes

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