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Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM. De Mori R, et al. Among authors: mancardi mm. Brain. 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247. Brain. 2019. PMID: 31412107 Free PMC article.
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.
Periventricular nodular heterotopia in Smith-Magenis syndrome.
Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R. Capra V, et al. Among authors: mancardi mm. Am J Med Genet A. 2014 Dec;164A(12):3142-7. doi: 10.1002/ajmg.a.36742. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257626
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.
Papa FT, Mancardi MM, Frullanti E, Fallerini C, Della Chiara V, Zalba-Jadraque L, Baldassarri M, Gamucci A, Mari F, Veneselli E, Renieri A. Papa FT, et al. Among authors: mancardi mm. Clin Dysmorphol. 2018 Jan;27(1):18-20. doi: 10.1097/MCD.0000000000000205. Clin Dysmorphol. 2018. PMID: 29194067 No abstract available.
119 results