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

Year Number of Results
1998 1
1999 1
2001 5
2002 2
2003 4
2004 5
2005 3
2006 4
2007 1
2008 4
2009 7
2010 7
2011 1
2012 2
2013 3
2014 1
2015 2
2016 3
2017 4
2018 3
2019 2
2024 0

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Similar articles for PMID: 11456298

60 results

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Page 1
Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.
Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, Tullo A, Zoccolella S, Guerriero S, Petruzzella V. Bianco A, et al. BMC Med Genet. 2018 Jul 27;19(1):129. doi: 10.1186/s12881-018-0644-3. BMC Med Genet. 2018. PMID: 30053855 Free PMC article.
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
Caporali L, Iommarini L, La Morgia C, Olivieri A, Achilli A, Maresca A, Valentino ML, Capristo M, Tagliavini F, Del Dotto V, Zanna C, Liguori R, Barboni P, Carbonelli M, Cocetta V, Montopoli M, Martinuzzi A, Cenacchi G, De Michele G, Testa F, Nesti A, Simonelli F, Porcelli AM, Torroni A, Carelli V. Caporali L, et al. PLoS Genet. 2018 Feb 14;14(2):e1007210. doi: 10.1371/journal.pgen.1007210. eCollection 2018 Feb. PLoS Genet. 2018. PMID: 29444077 Free PMC article.
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
Mukai M, Nagata E, Mizuma A, Yamano M, Sugaya K, Nishino I, Goto YI, Takizawa S. Mukai M, et al. Intern Med. 2017;56(1):95-99. doi: 10.2169/internalmedicine.56.7301. Epub 2017 Jan 1. Intern Med. 2017. PMID: 28050007 Free PMC article.
60 results