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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.
Hum Mutat. 2017.
PMID: 27864847
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.
Guerrini R, Cellini E, Mei D, Metitieri T, Petrelli C, Pucatti D, Marini C, Zamponi N.
Guerrini R, et al. Among authors: pucatti d.
Epilepsia. 2010 Dec;51(12):2474-7. doi: 10.1111/j.1528-1167.2010.02790.x. Epub 2010 Nov 18.
Epilepsia. 2010.
PMID: 21204810
Free article.
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Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E.
Guerrini R, et al. Among authors: pucatti d.
Eur J Hum Genet. 2012 Sep;20(9):995-8. doi: 10.1038/ejhg.2012.21. Epub 2012 Feb 15.
Eur J Hum Genet. 2012.
PMID: 22333901
Free PMC article.
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Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R.
Parrini E, et al. Among authors: pucatti d.
J Med Genet. 2015 Jun;52(6):405-12. doi: 10.1136/jmedgenet-2014-102959. Epub 2015 Mar 9.
J Med Genet. 2015.
PMID: 25755106
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Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, Pucatti D, Ferrari A, Sicca F, Specchio N, Trivisano M, Battaglia D, Contaldo I, Zamponi N, Petrelli C, Granata T, Ragona F, Avanzini G, Guerrini R.
Cetica V, et al. Among authors: pucatti d.
Neurology. 2017 Mar 14;88(11):1037-1044. doi: 10.1212/WNL.0000000000003716. Epub 2017 Feb 15.
Neurology. 2017.
PMID: 28202706
Free PMC article.
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In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
Parrini E, Rivas IL, Toral JF, Pucatti D, Giglio S, Mei D, Guerrini R.
Parrini E, et al. Among authors: pucatti d.
Am J Med Genet A. 2011 May;155A(5):1140-6. doi: 10.1002/ajmg.a.33880. Epub 2011 Apr 11.
Am J Med Genet A. 2011.
PMID: 21484998
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