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Page 1
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Palombo F, et al. Among authors: la morgia c. Hum Genet. 2020 Nov;139(11):1429-1441. doi: 10.1007/s00439-020-02187-7. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488467 Free article.
Optic Disc Classification by Deep Learning versus Expert Neuro-Ophthalmologists.
Biousse V, Newman NJ, Najjar RP, Vasseneix C, Xu X, Ting DS, Milea LB, Hwang JM, Kim DH, Yang HK, Hamann S, Chen JJ, Liu Y, Wong TY, Milea D; BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) Study Group. Biousse V, et al. Ann Neurol. 2020 Oct;88(4):785-795. doi: 10.1002/ana.25839. Epub 2020 Aug 7. Ann Neurol. 2020. PMID: 32621348
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Among authors: la morgia c. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA. Carelli V, et al. Among authors: la morgia c. Biochim Biophys Acta. 2009 May;1787(5):518-28. doi: 10.1016/j.bbabio.2009.02.024. Epub 2009 Mar 5. Biochim Biophys Acta. 2009. PMID: 19268652 Free article. Review.
Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies.
La Morgia C, Ross-Cisneros FN, Sadun AA, Hannibal J, Munarini A, Mantovani V, Barboni P, Cantalupo G, Tozer KR, Sancisi E, Salomao SR, Moraes MN, Moraes-Filho MN, Heegaard S, Milea D, Kjer P, Montagna P, Carelli V. La Morgia C, et al. Brain. 2010 Aug;133(Pt 8):2426-38. doi: 10.1093/brain/awq155. Epub 2010 Jul 21. Brain. 2010. PMID: 20659957 Free PMC article.
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
Maresca A, la Morgia C, Caporali L, Valentino ML, Carelli V. Maresca A, et al. Among authors: la morgia c. Mol Cell Neurosci. 2013 Jul;55(100):62-76. doi: 10.1016/j.mcn.2012.08.004. Epub 2012 Aug 15. Mol Cell Neurosci. 2013. PMID: 22960139 Free PMC article. Review.
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy.
Rizzo G, Tozer KR, Tonon C, Manners D, Testa C, Malucelli E, Valentino ML, La Morgia C, Barboni P, Randhawa RS, Ross-Cisneros FN, Sadun AA, Carelli V, Lodi R. Rizzo G, et al. Among authors: la morgia c. PLoS One. 2012;7(11):e50230. doi: 10.1371/journal.pone.0050230. Epub 2012 Nov 27. PLoS One. 2012. PMID: 23209682 Free PMC article.
165 results