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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 2
1993 3
1994 2
1995 7
1997 4
1998 4
1999 8
2000 3
2001 5
2002 4
2003 3
2004 3
2005 3
2006 7
2007 3
2008 7
2009 5
2010 1
2011 7
2012 9
2013 4
2014 6
2015 8
2016 8
2017 8
2018 7
2019 4
2020 6
2021 2
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128 results
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Page 1
Classification and molecular pathogenesis of NBIA syndromes.
Di Meo I, Tiranti V. Di Meo I, et al. Among authors: tiranti v. Eur J Paediatr Neurol. 2018 Mar;22(2):272-284. doi: 10.1016/j.ejpn.2018.01.008. Epub 2018 Jan 17. Eur J Paediatr Neurol. 2018. PMID: 29409688 Review.
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: tiranti v. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. Among authors: tiranti v. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models.
Iannielli A, Bido S, Folladori L, Segnali A, Cancellieri C, Maresca A, Massimino L, Rubio A, Morabito G, Caporali L, Tagliavini F, Musumeci O, Gregato G, Bezard E, Carelli V, Tiranti V, Broccoli V. Iannielli A, et al. Among authors: tiranti v. Cell Rep. 2018 Feb 20;22(8):2066-2079. doi: 10.1016/j.celrep.2018.01.089. Cell Rep. 2018. PMID: 29466734 Free PMC article.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ. Heimer G, et al. Among authors: tiranti v. Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3. Am J Hum Genet. 2016. PMID: 27817865 Free PMC article.
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Hartig MB, et al. Among authors: tiranti v. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. Am J Hum Genet. 2011. PMID: 21981780 Free PMC article.
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
Santambrogio P, Ripamonti M, Paolizzi C, Panteghini C, Carecchio M, Chiapparini L, Raimondi M, Rubio A, Di Meo I, Cozzi A, Taverna S, De Palma G, Tiranti V, Levi S. Santambrogio P, et al. Among authors: tiranti v. Int J Mol Sci. 2020 May 22;21(10):3664. doi: 10.3390/ijms21103664. Int J Mol Sci. 2020. PMID: 32456086 Free PMC article.
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