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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium; Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M. Chiò A, et al. Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366. Brain. 2012. PMID: 22366794 Free PMC article.
FUS mutations in sporadic amyotrophic lateral sclerosis.
Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurro MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F; ITALSGEN Consortium; Mora G, Restagno G, Chiò A, Traynor BJ. Lai SL, et al. Neurobiol Aging. 2011 Mar;32(3):550.e1-4. doi: 10.1016/j.neurobiolaging.2009.12.020. Epub 2010 Feb 6. Neurobiol Aging. 2011. PMID: 20138404 Free PMC article.
The role of cytomegalovirus in schizencephaly.
Spalice A, Del Balzo F, Nicita F, Papetti L, Ursitti F, Iannetti P. Spalice A, et al. Among authors: papetti l. Am J Med Genet A. 2011 Jul;155A(7):1768; author reply 1769. doi: 10.1002/ajmg.a.33922. Epub 2011 Jun 2. Am J Med Genet A. 2011. PMID: 21638760 No abstract available.
Fiber tractography assessment in double cortex syndrome.
Iannetti P, Nicita F, Spalice A, Parisi P, Papetti L, Verrotti A. Iannetti P, et al. Among authors: papetti l. Childs Nerv Syst. 2011 Aug;27(8):1197-202. doi: 10.1007/s00381-011-1491-0. Epub 2011 May 24. Childs Nerv Syst. 2011. PMID: 21607638
Tension-type headache in paediatric age.
Parisi P, Papetti L, Spalice A, Nicita F, Ursitti F, Villa MP. Parisi P, et al. Among authors: papetti l. Acta Paediatr. 2011 Apr;100(4):491-5. doi: 10.1111/j.1651-2227.2010.02115.x. Epub 2011 Jan 12. Acta Paediatr. 2011. PMID: 21143645 Review.
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, Mutani R, Brunetti M, Ossola I, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cossu P, Abramzon Y, Johnson JO, Nalls MA, Arepalli S, Chong S, Hernandez DG, Traynor BJ, Restagno G; Italian Amyotrophic Lateral Sclerosis Genetic (ITALSGEN) Consortium. Chiò A, et al. Arch Neurol. 2011 May;68(5):594-8. doi: 10.1001/archneurol.2010.352. Epub 2011 Jan 10. Arch Neurol. 2011. PMID: 21220647 Free PMC article.
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