Search Results - "ZARA, F"

Functional morphology of the seminal receptacle of Mithrax, Mithraculus and Omalacantha spider crabs (Brachyura: Mithracidae) by Assugeni, C.O., Zara, F.J.

“…Most Majoidea crabs display high sperm competition rates due to the development of spermatic strata within the seminal receptacle (SR). To verify the…”
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How is small bowel permeability in endometriosis patients? a case control pilot study by Viganó, D., Zara, F., Pinto, S., Loddo, E., Casula, L., Soru, M. B., D'Ancona, G., D'Alterio, M. N., Giuliani, C., Angioni, S., Usai, P.

“…Endometriosis is a chronic inflammatory disease of women of reproductive age. Small bowel (SB) permeability and lipopolysaccharides (LPS) could play a role in…”
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Hybrid 3D mass-spring system for simulation of isotropic materials with any Poisson’s ratio by Golec, K., Palierne, J.-F., Zara, F., Nicolle, S., Damiand, G.

“…Mass-spring systems (MSS) simulating elastic materials obey constraints known in elasticity as the Cauchy relations , restricting the Poisson ratio of…”
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Ovarian development in swimming crabs: Comparative histochemistry and ultrastructure of Callinectes ornatus and Arenaeus cribrarius (Brachyura, Portunidae) by Garcia Bento, M.A., Nascimento, F.A., Mantelatto, F.L., Zara, F.J.

“…[Display omitted] •Both species shows six stages of ovary maturation.•Endogenous yolk is formed by dilated rough endoplasmic reticulum and Golgi…”
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GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy by STRIANO, P, WEBER, Y. G, POLVI, A, ROBBIANO, A, SERRATOSA, J. M, GUERRINI, R, NÜRNBERG, P, SANDER, T, ZARA, F, LERCHE, H, MARINI, C, TOLIAT, M. R, SCHUBERT, J, LEU, C, CHAIMANA, R, BAULAC, S, GUERRERO, R, LEGUERN, E, LEHESJOKI, A.-E

“…The idiopathic generalized epilepsies (IGE) are the most common genetically determined epilepsies. However, the underlying genes are largely unknown. We…”
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An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy by STRIANO, P, COPPOLA, A, RASMINI, P, BESANA, D, COPPOLA, G. G, ELIA, M, GRANATA, T, VECCHI, M, VIGEVANO, F, VIRI, M, GAGGERO, R, STRIANO, S, PEZZELLA, M, ZARA, F, CIAMPA, C, SPECCHIO, N, RAGONA, F, MANCARDI, M. M, GENNARO, E, BECCARIA, F, CAPOVILLA, G

“…To conduct an open-label, add-on trial on safety and efficacy of levetiracetam in severe myoclonic epilepsy of infancy (SMEI). SMEI patients were recruited…”
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Surface-sediment and hermit-crab contamination by butyltins in southeastern Atlantic estuaries after ban of TBT-based antifouling paints by Sant’Anna, B. S, Santos, D. M, Marchi, M. R. R, Zara, F. J, Turra, A

“…Butyltin (BT) contamination was evaluated in hermit crabs from 25 estuaries and in sediments from 13 of these estuaries along about 2,000 km of the Brazilian…”
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WEST SYNDROME ASSOCIATED WITH 14q12 DUPLICATIONS HARBORING FOXG1 by STRIANO, P, PARAVIDINO, R, OPERTO, F, VIGLIANO, P, GRANATA, T, COPPOLA, G, ROMEO, A, SPECCHIO, N, GIORDANO, L, OSBORNE, L. R, GIMELLI, G, MINETTI, C, SICCA, F, ZARA, F, CHIURAZZI, P, GIMELLI, S, COPPOLA, A, ROBBIANO, A, TRAVERSO, M, PINTAUDI, M, GIOVANNINI, S

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Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies by CASSANDRINI, D, BIANCHERI, R, EMMA, F, MEZZANO, P, POLITI, M. R, LAVERDA, A. M, ZARA, F, PAVONE, L, SIMONATI, A, LEUZZI, V, SANTORELLI, F. M, BERTINI, E, TESSA, A, DI ROCCO, M, DI CAPUA, M, BRUNO, C, DENORA, P. S, SARTORI, S, ROSSI, A, NOZZA, P

“…Mutations in genes encoding subunits of the tRNA-splicing endonuclease (TSEN) complex were identified in patients with pontocerebellar hypoplasia 2 (PCH2) and…”
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Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) by BRUNO, C, VAN DIGGELEN, O. P, MORA, M, TONOLI, E, MASCELLI, S, TRAVERSO, M, PASQUINI, E, BADO, M, VILARINHO, L, VAN NOORT, G, MOSCA, F, DIMAURO, S, CASSANDRINI, D, ZARA, F, MINETTI, C, GIMPELEV, M, GIUFFRE, B, DONATI, M. A, INTROVINI, P, ALEGRIA, A, ASSERETO, S, MORANDI, L

“…Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and…”
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Lorazepam-induced effects on silent period and corticomotor excitability by KIMISKIDIS, V. K, PAPAGIANNOPOULOS, S, KAZIS, D. A, SOTIRAKOGLOU, K, VASILIADIS, G, ZARA, F, KAZIS, A, MILLS, K. R

“…TMS studies on the CNS effects of benzodiazepines have provided contradictory results. The objective of this study is to describe the effects of lorazepam on…”
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Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype by Striano, P., Zara, F., Striano, S.

“…The association of cortical tremor, myoclonus and epileptic seizures has been reported in many Japanese and European families with different acronyms. We…”
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Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy by NABBOUT, R, GENNARO, E, FONTANA, E, GAGGERO, R, GRANATA, T, GUERRINI, R, LOI, M, LA SELVA, L, LISPI, M. L, MATRICARDI, A, ROMEO, A, TZOLAS, V, DALLA BERNARDINA, B, VALSERIATI, D, VEGGIOTTI, P, VIGEVANO, F, VALLEE, L, DAGNA BRICARELLI, F, BIANCHI, A, ZARA, F, DULAC, O, MADIA, F, BERTINI, E, CAPOVILLA, G, CHIRON, C, CRISTOFORI, G, ELIA, M

“…SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93…”
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Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy by MADIA, F, STRIANO, P, MINETTI, C, ZARA, F, GENNARO, E, MALACARNE, M, PARAVIDINO, R, BIANCHERI, R, BUDETTA, M, CILIO, M. R, GAGGERO, R, PIERLUIGI, M

“…To identify cryptic chromosomal deletions involving SCN1A in patients with severe myoclonic epilepsy of infancy (SMEI). Thirty-nine patients with SMEI and…”
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Novel FAM126A mutations in hypomyelination and congenital cataract disease by Traverso, M., Assereto, S., Gazzerro, E., Savasta, S., Abdalla, E.M., Rossi, A., Baldassari, S., Fruscione, F., Ruffinazzi, G., Fassad, M.R., El Beheiry, A., Minetti, C., Zara, F., Biancheri, R.

“…•Novel mutations in FAM126A have been identified.•Further genotype-phenotype correlations of HCC (OMIM #610532) have been defined.•FAM126A missense mutations…”
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OP12 – 2577: Targeted resequencing in epileptic encephalopathies: diagnostic implications and genotype–phenotype correlations by Zara, F, Gennaro, E, Vari, S, Coviello, D, Striano, P

“…Objective To assess the diagnostic value of NGS target resequencing approach for epileptic encephalopathies. Methods The diagnostic tool allows the screening…”
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The genome of Rhizobium leguminosarum has recognizable core and accessory components by Young, J Peter W, Crossman, Lisa C, Johnston, Andrew W B, Thomson, Nicholas R, Ghazoui, Zara F, Hull, Katherine H, Wexler, Margaret, Curson, Andrew R J, Todd, Jonathan D, Poole, Philip S, Mauchline, Tim H, East, Alison K, Quail, Michael A, Churcher, Carol, Arrowsmith, Claire, Cherevach, Inna, Chillingworth, Tracey, Clarke, Kay, Cronin, Ann, Davis, Paul, Fraser, Audrey, Hance, Zahra, Hauser, Heidi, Jagels, Kay, Moule, Sharon, Mungall, Karen, Norbertczak, Halina, Rabbinowitsch, Ester, Sanders, Mandy, Simmonds, Mark, Whitehead, Sally, Parkhill, Julian

“…Rhizobium leguminosarum is an alpha-proteobacterial N2-fixing symbiont of legumes that has been the subject of more than a thousand publications. Genes for the…”
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Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution by Agostinelli, S., Traverso, M., Accorsi, P., Beccaria, F., Belcastro, V., Capovilla, G., Cappanera, S., Coppola, A., Dalla Bernardina, B., Darra, F., Ferretti, M., Elia, M., Galeone, D., Giordano, L., Gobbi, G., Nicita, F., Parisi, P., Pezzella, M., Spalice, A., Striano, S., Tozzi, E., Vignoli, A., Minetti, C., Zara, F., Striano, P., Verrotti, A.

“…Background and purposes To determine the prevalence of SLC2A1 mutations in children with early‐onset absence epilepsy (EOAE) and to investigate whether there…”
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Shell finite element model for interactive foetal head deformation during childbirth by Bailet, M., Zara, F., Promayon, E.

“…In this paper, we design a flat shell finite element model in order to simulate the fetal head deformation during childbirth. This new method also guarantees…”
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A novel intronic variant of SCN1A gene responsible for severe epileptic encephalopathy with refractory status epilepticus by Bisulli, F, Licchetta, L, Alvisi, L, Zara, F, Gennaro, E, Pini, A, Gobbi, G, Tinuper, P

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