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C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.
Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D'Ascenzo C, Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F, Corti S, Ceroni M, Oggioni GD, Lin K, Powell JF, Sorarù G, Ticozzi N, Comi GP, D'Alfonso S, Gellera C, Silani V; SLAGEN Consortium. Ratti A, et al. Among authors: del bo r. Neurobiol Aging. 2012 Oct;33(10):2528.e7-14. doi: 10.1016/j.neurobiolaging.2012.06.008. Epub 2012 Jul 4. Neurobiol Aging. 2012. PMID: 22766072
A collection of 33 novel human mtDNA homoplasmic variants.
Crimi M, Sciacco M, Galbiati S, Bordoni A, Malferrari G, Del Bo R, Biunno I, Bresolin N, Comi GP. Crimi M, et al. Among authors: del bo r. Hum Mutat. 2002 Nov;20(5):409. doi: 10.1002/humu.9079. Hum Mutat. 2002. PMID: 12402350
128 results