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Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial.
Beghi E, Pupillo E, Bianchi E, Bonetto V, Luotti S, Pasetto L, Bendotti C, Tortarolo M, Sironi F, Camporeale L, Sherman AV, Paganoni S, Scognamiglio A, De Marchi F, Bongioanni P, Del Carratore R, Caponnetto C, Diamanti L, Martinelli D, Calvo A, Filosto M, Padovani A, Piccinelli SC, Ricci C, Dalla Giacoma S, De Angelis N, Inghilleri M, Spataro R, La Bella V, Logroscino G, Lunetta C, Tarlarini C, Mandrioli J, Martinelli I, Simonini C, Zucchi E, Monsurrò MR, Ricciardi D, Trojsi F, Riva N, Filippi M, Simone IL, Sorarù G, Spera C, Florio L, Messina S, Russo M, Siciliano G, Conte A, Saddi MV, Carboni N, Mazzini L; RNS60-ALS Study Group. Beghi E, et al. Among authors: mandrioli j. Eur J Neurol. 2023 Jan;30(1):69-86. doi: 10.1111/ene.15573. Epub 2022 Oct 7. Eur J Neurol. 2023. PMID: 36148821 Free PMC article. Clinical Trial.
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
Mancuso M, Conforti FL, Rocchi A, Tessitore A, Muglia M, Tedeschi G, Panza D, Monsurrò M, Sola P, Mandrioli J, Choub A, DelCorona A, Manca ML, Mazzei R, Sprovieri T, Filosto M, Salviati A, Valentino P, Bono F, Caracciolo M, Simone IL, La Bella V, Majorana G, Siciliano G, Murri L, Quattrone A. Mancuso M, et al. Among authors: mandrioli j. Neurosci Lett. 2004 Nov 23;371(2-3):158-62. doi: 10.1016/j.neulet.2004.08.060. Neurosci Lett. 2004. PMID: 15519748
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: mandrioli j. 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.
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.
Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Mandrioli J, Salvi F, Spataro R, Schymick J, Traynor BJ, La Bella V; ITALSGEN Consortium. Chiò A, et al. Among authors: mandrioli j. Neurobiol Aging. 2009 Aug;30(8):1272-5. doi: 10.1016/j.neurobiolaging.2009.05.001. Epub 2009 May 17. Neurobiol Aging. 2009. PMID: 19450904 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. Among authors: mandrioli j. 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.
Lithium carbonate in amyotrophic lateral sclerosis: lack of efficacy in a dose-finding trial.
Chiò A, Borghero G, Calvo A, Capasso M, Caponnetto C, Corbo M, Giannini F, Logroscino G, Mandrioli J, Marcello N, Mazzini L, Moglia C, Monsurrò MR, Mora G, Patti F, Perini M, Pietrini V, Pisano F, Pupillo E, Sabatelli M, Salvi F, Silani V, Simone IL, Sorarù G, Tola MR, Volanti P, Beghi E; LITALS Study Group. Chiò A, et al. Among authors: mandrioli j. Neurology. 2010 Aug 17;75(7):619-25. doi: 10.1212/WNL.0b013e3181ed9e7c. Epub 2010 Aug 11. Neurology. 2010. PMID: 20702794 Clinical Trial.
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.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
178 results