TY - JOUR
T1 - ATXN2 polyQ intermediate repeats are a modifier of ALS survival
AU - Chiò, A
AU - Calvo, A
AU - Moglia, C
AU - Canosa, A
AU - Brunetti, M
AU - Barberis, M
AU - Restagno, G
AU - Conte, Amelia
AU - Bisogni, Giulia
AU - Marangi, Giuseppe
AU - Moncada, Alice
AU - Lattante, Serena
AU - Zollino, Marcella
AU - Sabatelli, Mario
AU - Bagarotti, A
AU - Corrado, L
AU - Mora, G
AU - Bersano, E
AU - Mazzini, L
AU - D'Alfonso, S.
PY - 2015
Y1 - 2015
N2 - 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).
AB - 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).
KW - als
KW - als
UR - https://publicatt.unicatt.it/handle/10807/64787
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=84925953333&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84925953333&origin=inward
U2 - 10.1212/WNL.0000000000001159
DO - 10.1212/WNL.0000000000001159
M3 - Article
SN - 0028-3878
VL - 84
SP - 251
EP - 258
JO - Neurology
JF - Neurology
IS - 3
ER -