8 results for author:"De Falco F." in Literature citations
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| LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. Fanciulli M., Santulli L., Errichiello L., Barozzi C., Tomasi L., Rigon L., Cubeddu T., de Falco A., Rampazzo A., Michelucci R. et al. Neurology 78:1299-1303(2012) · Mapped (2) |
| Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme. Chinetti V., Iossa S., Auletta G., Corvino V., De Luca M., De Falco F., Giannini P., Lilli G., Malesci R., Riccardi P. et al. Int J Audiol 50:866-870(2011) · Mapped (4) |
| Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. Esposito G., De Falco F., Tinto N., Testa F., Vitagliano L., Tandurella I.C., Iannone L., Rossi S., Rinaldi E., Simonelli F. et al. Hum. Mutat. 32:1460-1469(2011) · UniProtKB (1) |
| TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Falace A., Filipello F., La Padula V., Vanni N., Madia F., De Pietri Tonelli D., de Falco F.A., Striano P., Dagna Bricarelli F., Minetti C. et al. Am. J. Hum. Genet. 87:365-370(2010) · UniProtKB (3) · Mapped (6) |
| Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. Esposito G., De Falco F., Brazzelli V., Montanari L., Larizza D., Salvatore F. J. Dermatol. Sci. 55:128-130(2009) · Mapped (7) |
| A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. Striano P., de Falco A., Diani E., Bovo G., Furlan S., Vitiello L., Pinardi F., Striano S., Michelucci R., de Falco F.A. et al. |
| PML interacts with Myc, and Myc target gene expression is altered in PML-null fibroblasts. Cairo S., De Falco F., Pizzo M., Salomoni P., Pandolfi P.P., Meroni G. Oncogene 24:2195-2203(2005) · Mapped (16) |
| Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters. Boccella P., Striano P., Zara F., Barbieri F., Sarappa C., Vacca G., de Falco F.A., Striano S. Clin Neurol Neurosurg 106:55-59(2003) · Mapped (5) |