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Page 1
Genetic counselling in ALS: facts, uncertainties and clinical suggestions.
Chiò A, Battistini S, Calvo A, Caponnetto C, Conforti FL, Corbo M, Giannini F, Mandrioli J, Mora G, Sabatelli M; ITALSGEN Consortium; Ajmone C, Mastro E, Pain D, Mandich P, Penco S, Restagno G, Zollino M, Surbone A. Chiò A, et al. Among authors: restagno g. J Neurol Neurosurg Psychiatry. 2014 May;85(5):478-85. doi: 10.1136/jnnp-2013-305546. Epub 2013 Jul 6. J Neurol Neurosurg Psychiatry. 2014. PMID: 23833266 Review.
Extensive genetics of ALS: a population-based study in Italy.
Chiò A, Calvo A, Mazzini L, Cantello R, Mora G, Moglia C, Corrado L, D'Alfonso S, Majounie E, Renton A, Pisano F, Ossola I, Brunetti M, Traynor BJ, Restagno G; PARALS. Chiò A, et al. Among authors: restagno g. Neurology. 2012 Nov 6;79(19):1983-9. doi: 10.1212/WNL.0b013e3182735d36. Epub 2012 Oct 24. Neurology. 2012. PMID: 23100398 Free PMC article.
Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy.
Montuschi A, Iazzolino B, Calvo A, Moglia C, Lopiano L, Restagno G, Brunetti M, Ossola I, Lo Presti A, Cammarosano S, Canosa A, Chiò A. Montuschi A, et al. Among authors: restagno g. J Neurol Neurosurg Psychiatry. 2015 Feb;86(2):168-73. doi: 10.1136/jnnp-2013-307223. Epub 2014 Apr 25. J Neurol Neurosurg Psychiatry. 2015. PMID: 24769471 Free article.
A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment.
Canosa A, Calvo A, Moglia C, Iazzolino B, Brunetti M, Restagno G, Cistaro A, Fania P, Carrara G, Valentini MC, Tanel R, Chiò A. Canosa A, et al. Among authors: restagno g. J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1437-9. doi: 10.1136/jnnp-2013-307552. Epub 2014 Apr 25. J Neurol Neurosurg Psychiatry. 2014. PMID: 24769475 No abstract available.
ATXN2 polyQ intermediate repeats are a modifier of ALS survival.
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; PARALS. Chiò A, et al. Among authors: restagno g. Neurology. 2015 Jan 20;84(3):251-8. doi: 10.1212/WNL.0000000000001159. Epub 2014 Dec 19. Neurology. 2015. PMID: 25527265 Free article.
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Monsurrò MR, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Nilo R, Battistini S, Mandrioli J, Tanel R, Murru MR, Mandich P, Zollino M, Conforti FL; ITALSGEN Consortium; Brunetti M, Barberis M, Restagno G, Penco S, Lunetta C. Chiò A, et al. Among authors: restagno g. Neurobiol Aging. 2015 Apr;36(4):1767.e3-1767.e6. doi: 10.1016/j.neurobiolaging.2015.01.017. Epub 2015 Jan 28. Neurobiol Aging. 2015. PMID: 25726362 Free PMC article.
HFE p.H63D polymorphism does not influence ALS phenotype and survival.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Monsurrò MR, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Nilo R, Giannini F, Mandrioli J, Tanel R, Murru MR, Mandich P, Zollino M, Conforti FL, Penco S; ITALSGEN consortium; SARDINIALS consortium; Brunetti M, Barberis M, Restagno G. Chiò A, et al. Among authors: restagno g. Neurobiol Aging. 2015 Oct;36(10):2906.e7-11. doi: 10.1016/j.neurobiolaging.2015.06.016. Epub 2015 Jun 18. Neurobiol Aging. 2015. PMID: 26174855 Free PMC article.
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9. Neurobiol Aging. 2016. PMID: 27156075 Free PMC article.
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.
Bandres-Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G; ITALSGEN Consortium; International ALS Genomics Consortium; Tienari PJ, Stone DJ, Nalls MA, Singleton AB, Chiò A, Traynor BJ. Bandres-Ciga S, et al. Ann Neurol. 2019 Apr;85(4):470-481. doi: 10.1002/ana.25431. Epub 2019 Mar 13. Ann Neurol. 2019. PMID: 30723964 Free PMC article.
Prevalence of SOD1 mutations in the Italian ALS population.
Chiò A, Traynor BJ, Lombardo F, Fimognari M, Calvo A, Ghiglione P, Mutani R, Restagno G. Chiò A, et al. Among authors: restagno g. Neurology. 2008 Feb 12;70(7):533-7. doi: 10.1212/01.wnl.0000299187.90432.3f. Neurology. 2008. PMID: 18268245
123 results