To analyze the frequency and clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) with intermediate-length (CAG) expansion (encoding 27-33 glutamines, polyQ) in the ATXN2 gene, in a population-based cohort of Italian patients with ALS (discovery cohort), and to replicate the findings in an independent cohort of consecutive patients from an ALS tertiary center (validation cohort).

Chiò, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Barberis, M., Restagno, G., Conte, A., Bisogni, G., Marangi, G., Moncada, A., Lattante, S., Zollino, M., Sabatelli, M., Bagarotti, A., Corrado, L., Mora, G., Bersano, E., Mazzini, L., D'Alfonso, S., ATXN2 polyQ intermediate repeats are a modifier of ALS survival, <<NEUROLOGY>>, 2015; 84 (3): 251-258. [doi:10.1212/WNL.0000000000001159] [http://hdl.handle.net/10807/64787]

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

Conte, Amelia;Bisogni, Giulia;Marangi, Giuseppe;Moncada, Alice;Lattante, Serena;Zollino, Marcella;Sabatelli, Mario;
2015

Abstract

To analyze the frequency and clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) with intermediate-length (CAG) expansion (encoding 27-33 glutamines, polyQ) in the ATXN2 gene, in a population-based cohort of Italian patients with ALS (discovery cohort), and to replicate the findings in an independent cohort of consecutive patients from an ALS tertiary center (validation cohort).
2015
Inglese
Chiò, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Barberis, M., Restagno, G., Conte, A., Bisogni, G., Marangi, G., Moncada, A., Lattante, S., Zollino, M., Sabatelli, M., Bagarotti, A., Corrado, L., Mora, G., Bersano, E., Mazzini, L., D'Alfonso, S., ATXN2 polyQ intermediate repeats are a modifier of ALS survival, <<NEUROLOGY>>, 2015; 84 (3): 251-258. [doi:10.1212/WNL.0000000000001159] [http://hdl.handle.net/10807/64787]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/64787
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