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A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ. Chiò A, et al. Among authors: mutani r. Hum Mol Genet. 2009 Apr 15;18(8):1524-32. doi: 10.1093/hmg/ddp059. Epub 2009 Feb 4. Hum Mol Genet. 2009. PMID: 19193627 Free PMC article.
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. Among authors: mutani r. 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.
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.
Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: clinical and biological results from a prospective multicenter study.
Chiò A, Mora G, La Bella V, Caponnetto C, Mancardi G, Sabatelli M, Siciliano G, Silani V, Corbo M, Moglia C, Calvo A, Mutani R, Rutella S, Gualandi F, Melazzini M, Scimè R, Petrini M, Bondesan P, Garbelli S, Mantovani S, Bendotti C, Tarella C; STEMALS Study Group. Chiò A, et al. Among authors: mutani r. Muscle Nerve. 2011 Feb;43(2):189-95. doi: 10.1002/mus.21851. Muscle Nerve. 2011. PMID: 21254083 Clinical Trial.
The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.
Restagno G, Gomez A, Lombardo F, Cocco E, Calvo A, Ghiglione P, Mutani R, Chiò A. Restagno G, et al. Among authors: mutani r. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Mar;6(1):45-9. doi: 10.1080/14660820410021276. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005. PMID: 16036425
258 results