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386 results

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Page 1
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Virgilio R, et al. Among authors: bordoni a. J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575922
New mutations in TK2 gene associated with mitochondrial DNA depletion.
Galbiati S, Bordoni A, Papadimitriou D, Toscano A, Rodolico C, Katsarou E, Sciacco M, Garufi A, Prelle A, Aguennouz M', Bonsignore M, Crimi M, Martinuzzi A, Bresolin N, Papadimitriou A, Comi GP. Galbiati S, et al. Among authors: bordoni a. Pediatr Neurol. 2006 Mar;34(3):177-85. doi: 10.1016/j.pediatrneurol.2005.07.013. Pediatr Neurol. 2006. PMID: 16504786
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: bordoni a. J Neurol Sci. 2011 Sep 15;308(1-2):173-6. doi: 10.1016/j.jns.2011.05.042. J Neurol Sci. 2011. PMID: 21689831 Free PMC article.
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP. Ronchi D, et al. Among authors: bordoni a. BMC Neurol. 2011 Jul 12;11:85. doi: 10.1186/1471-2377-11-85. BMC Neurol. 2011. PMID: 21749722 Free PMC article.
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Ronchi D, et al. Among authors: bordoni a. Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4. Brain. 2012. PMID: 23043144 Free PMC article.
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.
Sciacco M, Prelle A, Comi GP, Napoli L, Battistel A, Bresolin N, Tancredi L, Lamperti C, Bordoni A, Fagiolari G, Ciscato P, Chiveri L, Perini MP, Fortunato F, Adobbati L, Messina S, Toscano A, Martinelli-Boneschi F, Papadimitriou A, Scarlato G, Moggio M. Sciacco M, et al. Among authors: bordoni a. J Neurol. 2001 Sep;248(9):778-88. doi: 10.1007/s004150170094. J Neurol. 2001. PMID: 11596783
386 results