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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: orcesi s. BMC Neurol. 2011 Jul 12;11:85. doi: 10.1186/1471-2377-11-85. BMC Neurol. 2011. PMID: 21749722 Free PMC article.
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S. Tonduti D, et al. Among authors: orcesi s. J Child Neurol. 2013 Jun;28(6):795-800. doi: 10.1177/0883073812450944. Epub 2012 Jul 17. J Child Neurol. 2013. PMID: 22805248 Free PMC article.
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
Della Mina E, Ciccone R, Brustia F, Bayindir B, Limongelli I, Vetro A, Iascone M, Pezzoli L, Bellazzi R, Perotti G, De Giorgis V, Lunghi S, Coppola G, Orcesi S, Merli P, Savasta S, Veggiotti P, Zuffardi O. Della Mina E, et al. Among authors: orcesi s. Eur J Hum Genet. 2015 Mar;23(3):354-62. doi: 10.1038/ejhg.2014.92. Epub 2014 May 21. Eur J Hum Genet. 2015. PMID: 24848745 Free PMC article.
Risk and protective factors in maternal-fetal attachment development.
Pisoni C, Garofoli F, Tzialla C, Orcesi S, Spinillo A, Politi P, Balottin U, Manzoni P, Stronati M. Pisoni C, et al. Among authors: orcesi s. Early Hum Dev. 2014 Sep;90 Suppl 2:S45-6. doi: 10.1016/S0378-3782(14)50012-6. Early Hum Dev. 2014. PMID: 25220127 Review.
159 results