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Page 1
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium; Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ. Majounie E, et al. Lancet Neurol. 2012 Apr;11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1. Epub 2012 Mar 9. Lancet Neurol. 2012. PMID: 22406228 Free PMC article.
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: lunetta c. 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.
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. Among authors: lunetta c. Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366. Brain. 2012. PMID: 22366794 Free PMC article.
Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study.
Lauria G, Dalla Bella E, Antonini G, Borghero G, Capasso M, Caponnetto C, Chiò A, Corbo M, Eleopra R, Fazio R, Filosto M, Giannini F, Granieri E, La Bella V, Logroscino G, Mandrioli J, Mazzini L, Monsurrò MR, Mora G, Pietrini V, Quatrale R, Rizzi R, Salvi F, Siciliano G, Sorarù G, Volanti P, Tramacere I, Filippini G; EPOS Trial Study Group. Lauria G, et al. J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):879-86. doi: 10.1136/jnnp-2014-308996. Epub 2015 Jan 16. J Neurol Neurosurg Psychiatry. 2015. PMID: 25595151 Free PMC article. Clinical Trial.
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.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: lunetta c. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 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.
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurrò MR, Volanti P, Marinou K, Salvi F, Corbo M, Giannini F, Battistini S, Penco S, Lunetta C, Quattrone A, Gambardella A, Logroscino G, Simone I, Bartolomei I, Pisano F, Tedeschi G, Conte A, Spataro R, La Bella V, Caponnetto C, Mancardi G, Mandich P, Sola P, Mandrioli J, Renton AE, Majounie E, Abramzon Y, Marrosu F, Marrosu MG, Murru MR, Sotgiu MA, Pugliatti M, Rodolico C; ITALSGEN Consortium; Moglia C, Calvo A, Ossola I, Brunetti M, Traynor BJ, Borghero G, Restagno G, Chiò A. Sabatelli M, et al. Among authors: lunetta c. Neurobiol Aging. 2012 Aug;33(8):1848.e15-20. doi: 10.1016/j.neurobiolaging.2012.02.011. Epub 2012 Mar 13. Neurobiol Aging. 2012. PMID: 22418734 Free PMC article.
195 results