Tosatto SCE - Search Results

1

CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.

Leonardi E, Dazzo E, Aspromonte MC, Tabaro F, Pascarelli S, Tosatto SCE, Michelucci R, Murgia A, Nobile C. Leonardi E, et al. Among authors: tosatto sce. Epilepsy Res. 2018 Jan;139:51-53. doi: 10.1016/j.eplepsyres.2017.11.006. Epub 2017 Nov 21. Epilepsy Res. 2018. PMID: 29179159

2

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P. Nobile C, et al. Hum Mutat. 2009 Apr;30(4):530-6. doi: 10.1002/humu.20925. Hum Mutat. 2009. PMID: 19191227 Review.

3

Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network.

Leonardi E, Murgia A, Tosatto SC. Leonardi E, et al. FEBS Lett. 2009 Nov 19;583(22):3704-10. doi: 10.1016/j.febslet.2009.10.070. Epub 2009 Oct 28. FEBS Lett. 2009. PMID: 19878677 Free article.

4

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.

Benetti E, Caridi G, Malaventura C, Dagnino M, Leonardi E, Artifoni L, Ghiggeri GM, Tosatto SC, Murer L. Benetti E, et al. Clin J Am Soc Nephrol. 2010 Apr;5(4):698-702. doi: 10.2215/CJN.05670809. Epub 2010 Feb 11. Clin J Am Soc Nephrol. 2010. PMID: 20150449 Free PMC article.

5

Deletions and mutations in the acidic lipid-binding region of the plasma membrane Ca2+ pump: a study on different splicing variants of isoform 2.

Brini M, Di Leva F, Ortega CK, Domi T, Ottolini D, Leonardi E, Tosatto SC, Carafoli E. Brini M, et al. J Biol Chem. 2010 Oct 1;285(40):30779-91. doi: 10.1074/jbc.M110.140475. Epub 2010 Jul 19. J Biol Chem. 2010. PMID: 20643655 Free PMC article.

6

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.

Striano P, Busolin G, Santulli L, Leonardi E, Coppola A, Vitiello L, Rigon L, Michelucci R, Tosatto SC, Striano S, Nobile C. Striano P, et al. Neurology. 2011 Mar 29;76(13):1173-6. doi: 10.1212/WNL.0b013e318212ab2e. Neurology. 2011. PMID: 21444903

7

Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

Leonardi E, Martella M, Tosatto SC, Murgia A. Leonardi E, et al. Ann Hum Genet. 2011 Jul;75(4):483-96. doi: 10.1111/j.1469-1809.2011.00647.x. Epub 2011 Apr 4. Ann Hum Genet. 2011. PMID: 21463266

8

A computational model of the LGI1 protein suggests a common binding site for ADAM proteins.

Leonardi E, Andreazza S, Vanin S, Busolin G, Nobile C, Tosatto SC. Leonardi E, et al. PLoS One. 2011 Mar 29;6(3):e18142. doi: 10.1371/journal.pone.0018142. PLoS One. 2011. PMID: 21479274 Free PMC article.

9

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E. Bello L, et al. Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2. Eur J Hum Genet. 2012. PMID: 22549409 Free PMC article.

10

Fly cryptochrome and the visual system.

Mazzotta G, Rossi A, Leonardi E, Mason M, Bertolucci C, Caccin L, Spolaore B, Martin AJ, Schlichting M, Grebler R, Helfrich-Förster C, Mammi S, Costa R, Tosatto SC. Mazzotta G, et al. Proc Natl Acad Sci U S A. 2013 Apr 9;110(15):6163-8. doi: 10.1073/pnas.1212317110. Epub 2013 Mar 27. Proc Natl Acad Sci U S A. 2013. PMID: 23536301 Free PMC article.

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