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Page 1
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S. Ekong R, et al. Among authors: barberis m. Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26703369 Free PMC article.
Mutations in the lamin B1 gene are not present in multiple sclerosis.
Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A. Brussino A, et al. Among authors: barberis m. Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x. Eur J Neurol. 2009. PMID: 19348623
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, Brusco A. Cagnoli C, et al. Among authors: barberis m. Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342. Hum Mutat. 2010. PMID: 20725928
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.
Capponi S, Geuens T, Geroldi A, Origone P, Verdiani S, Cichero E, Adriaenssens E, De Winter V, Bandettini di Poggio M, Barberis M, Chiò A, Fossa P, Mandich P, Bellone E, Timmerman V. Capponi S, et al. Among authors: barberis m. Hum Mutat. 2016 Nov;37(11):1202-1208. doi: 10.1002/humu.23062. Epub 2016 Aug 30. Hum Mutat. 2016. PMID: 27492805 Free PMC article.
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.
Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A. Brussino A, et al. Among authors: barberis m. J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330. J Neurol Neurosurg Psychiatry. 2009. PMID: 19151023 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: barberis m. 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.
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. 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.
407 results