Zuffardi O - Search Results

1

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: zuffardi o. 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.

2

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Decio A, Tonduti D, Pichiecchio A, Vetro A, Ciccone R, Limongelli I, Giorda R, Caffi L, Balottin U, Zuffardi O, Orcesi S. Decio A, et al. Among authors: zuffardi o. Am J Med Genet A. 2015 Apr;167A(4):810-5. doi: 10.1002/ajmg.a.36907. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25706114

3

Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.

Caporali C, Signorini S, De Giorgis V, Pichiecchio A, Zuffardi O, Orcesi S. Caporali C, et al. Among authors: zuffardi o. Eur J Paediatr Neurol. 2018 Mar;22(2):336-339. doi: 10.1016/j.ejpn.2018.01.007. Epub 2018 Jan 31. Eur J Paediatr Neurol. 2018. PMID: 29396177

4

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Novara F, Groeneweg S, Freri E, Estienne M, Reho P, Matricardi S, Castellotti B, Visser WE, Zuffardi O, Visser TJ. Novara F, et al. Among authors: zuffardi o. Hum Mutat. 2017 Mar;38(3):260-264. doi: 10.1002/humu.23140. Epub 2017 Jan 5. Hum Mutat. 2017. PMID: 27805744

5

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. Conti V, et al. Among authors: zuffardi o. Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20. Brain. 2013. PMID: 24056535

6

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.

Cellini E, Disciglio V, Novara F, Barkovich JA, Mencarelli MA, Hayek J, Renieri A, Zuffardi O, Guerrini R. Cellini E, et al. Among authors: zuffardi o. Am J Med Genet A. 2012 Jul;158A(7):1793-7. doi: 10.1002/ajmg.a.35416. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678982 No abstract available.

7

22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature.

Valvo G, Novara F, Brovedani P, Ferrari AR, Guerrini R, Zuffardi O, Sicca F. Valvo G, et al. Among authors: zuffardi o. Epilepsy Behav. 2012 Dec;25(4):567-72. doi: 10.1016/j.yebeh.2012.09.035. Epub 2012 Nov 13. Epilepsy Behav. 2012. PMID: 23159380 Review.

8

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Among authors: zuffardi o. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947

9

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Novara F, Alfei E, D'Arrigo S, Pantaleoni C, Beri S, Achille V, Sciacca FL, Giorda R, Zuffardi O, Ciccone R. Novara F, et al. Among authors: zuffardi o. Eur J Med Genet. 2013 Jan;56(1):54-8. doi: 10.1016/j.ejmg.2012.10.002. Epub 2012 Oct 18. Eur J Med Genet. 2013. PMID: 23085304

10

Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation.

Merli P, Novara F, Montagna D, Benzo S, Tanzi M, Turin I, De Amici M, Merli A, Zuffardi O, Marseglia GL. Merli P, et al. Among authors: zuffardi o. Pediatr Allergy Immunol. 2014 Aug;25(5):503-5. doi: 10.1111/pai.12217. Epub 2014 Mar 16. Pediatr Allergy Immunol. 2014. PMID: 24628715 No abstract available.

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