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Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
Rosti G, Boeri S, Divizia MT, Pisciotta L, Mancardi MM, Lerone M, Cerminara M, Servetti M, Spirito G, Vozzi D, Fontana M, Gustincich S, Nobili L, Zara F, Puliti A. Rosti G, et al. Among authors: mancardi mm. Mol Syndromol. 2023 Oct;14(5):433-438. doi: 10.1159/000529408. Epub 2023 May 9. Mol Syndromol. 2023. PMID: 37915395 Free PMC article.
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Rice GI, et al. Among authors: mancardi mm. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686847 Free PMC article.
Familial epilepsy and developmental dysphasia: description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci.
Michelucci R, Scudellaro E, Testoni S, Passarelli D, Riguzzi P, Diani E, Vazza G, Vianello V, Scabar A, Mostacciuolo ML, Volpi L, Rubboli G, Pinardi F, Mancardi MM, Tassinari CA, Nobile C. Michelucci R, et al. Among authors: mancardi mm. Epilepsy Res. 2008 Jul;80(1):9-17. doi: 10.1016/j.eplepsyres.2008.03.014. Epub 2008 May 27. Epilepsy Res. 2008. PMID: 18508238
Severe epilepsy in X-linked creatine transporter defect (CRTR-D).
Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, Battaglia FM, Salomons GS, Jakobs C, Zara F, Veneselli E, Gaggero R. Mancardi MM, et al. Epilepsia. 2007 Jun;48(6):1211-3. doi: 10.1111/j.1528-1167.2007.01148.x. Epilepsia. 2007. PMID: 17553121 Free article.
120 results