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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: veggiotti p. 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.
CDKL5 deficiency disorder in males: Five new variants and review of the literature.
Siri B, Varesio C, Freri E, Darra F, Gana S, Mei D, Porta F, Fontana E, Galati G, Solazzi R, Niceta M, Veggiotti P, Alfei E. Siri B, et al. Among authors: veggiotti p. Eur J Paediatr Neurol. 2021 Jul;33:9-20. doi: 10.1016/j.ejpn.2021.04.007. Epub 2021 Apr 30. Eur J Paediatr Neurol. 2021. PMID: 33989939 Review.
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C, Gana S, Asaro A, Ballante E, Cabini RF, Tartara E, Bagnaschi M, Pasca L, Valente M, Orcesi S, Cereda C, Veggiotti P, Borgatti R, Valente EM, De Giorgis V. Varesio C, et al. Among authors: veggiotti p. Diagnostics (Basel). 2021 May 25;11(6):948. doi: 10.3390/diagnostics11060948. Diagnostics (Basel). 2021. PMID: 34070668 Free PMC article.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
241 results