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Page 1
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.
Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, Sorarù G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V. Corrado L, et al. Among authors: carlomagno y. J Med Genet. 2010 Mar;47(3):190-4. doi: 10.1136/jmg.2009.071027. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19861302
VPS54 genetic analysis in ALS Italian cohort.
Corrado L, Gagliardi S, Carlomagno Y, Mennini T, Ticozzi N, Mazzini L, Silani V, Cereda C, D'Alfonso S. Corrado L, et al. Among authors: carlomagno y. Eur J Neurol. 2011 Apr;18(4):e41-2. doi: 10.1111/j.1468-1331.2010.03260.x. Epub 2010 Nov 19. Eur J Neurol. 2011. PMID: 21087364 No abstract available.
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.
Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang YJ, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA, O'Raw A, Cook C, Pregent L, Belzil V, van Blitterswijk M, Tabassian LJ, Lee CW, Yue M, Tong J, Song Y, Castanedes-Casey M, Rousseau L, Phillips V, Dickson DW, Rademakers R, Fryer JD, Rush BK, Pedraza O, Caputo AM, Desaro P, Palmucci C, Robertson A, Heckman MG, Diehl NN, Wiggs E, Tierney M, Braun L, Farren J, Lacomis D, Ladha S, Fournier CN, McCluskey LF, Elman LB, Toledo JB, McBride JD, Tiloca C, Morelli C, Poletti B, Solca F, Prelle A, Wuu J, Jockel-Balsarotti J, Rigo F, Ambrose C, Datta A, Yang W, Raitcheva D, Antognetti G, McCampbell A, Van Swieten JC, Miller BL, Boxer AL, Brown RH, Bowser R, Miller TM, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Traynor BJ, Disney MD, Benatar M, Silani V, Glass JD, Floeter MK, Rothstein JD, Boylan KB, Petrucelli L. Gendron TF, et al. Among authors: carlomagno y. Sci Transl Med. 2017 Mar 29;9(383):eaai7866. doi: 10.1126/scitranslmed.aai7866. Sci Transl Med. 2017. PMID: 28356511 Free PMC article.
The role of eight polymorphisms in three candidate genes in determining the susceptibility, phenotype, and response to anti-TNF therapy in patients with rheumatoid arthritis.
Ceccarelli F, D'Alfonso S, Perricone C, Carlomagno Y, Alessandri C, Croia C, Barizzone N, Montecucco C, Galeazzi M, Sebastiani GD, Minisola G, Fiocco U, Valesini G. Ceccarelli F, et al. Among authors: carlomagno y. Clin Exp Rheumatol. 2012 Nov-Dec;30(6):939-42. Epub 2012 Dec 17. Clin Exp Rheumatol. 2012. PMID: 22992305
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency.
Giordano M, Godi M, Mellone S, Petri A, Vivenza D, Tiradani L, Carlomagno Y, Ferrante D, Arrigo T, Corneli G, Bellone S, Giacopelli F, Santoro C, Bona G, Momigliano-Richiardi P. Giordano M, et al. Among authors: carlomagno y. J Clin Endocrinol Metab. 2008 Mar;93(3):1005-12. doi: 10.1210/jc.2007-1918. Epub 2007 Dec 26. J Clin Endocrinol Metab. 2008. PMID: 18160466
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.
Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J, Paul JW 3rd, Goodman LD, Daughrity L, Chew J, Garrett A, Pregent L, Jansen-West K, Tabassian LJ, Rademakers R, Boylan K, Graff-Radford NR, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Deng N, Feng Y, Cheng TH, Dickson DW, Cohen SN, Bonini NM, Link CD, Gao FB, Petrucelli L, Gitler AD. Kramer NJ, et al. Among authors: carlomagno y. Science. 2016 Aug 12;353(6300):708-12. doi: 10.1126/science.aaf7791. Science. 2016. PMID: 27516603 Free PMC article.
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity.
Zhang YJ, Guo L, Gonzales PK, Gendron TF, Wu Y, Jansen-West K, O'Raw AD, Pickles SR, Prudencio M, Carlomagno Y, Gachechiladze MA, Ludwig C, Tian R, Chew J, DeTure M, Lin WL, Tong J, Daughrity LM, Yue M, Song Y, Andersen JW, Castanedes-Casey M, Kurti A, Datta A, Antognetti G, McCampbell A, Rademakers R, Oskarsson B, Dickson DW, Kampmann M, Ward ME, Fryer JD, Link CD, Shorter J, Petrucelli L. Zhang YJ, et al. Among authors: carlomagno y. Science. 2019 Feb 15;363(6428):eaav2606. doi: 10.1126/science.aav2606. Science. 2019. PMID: 30765536 Free PMC article.
40 results