COMBI, ROMINA
COMBI, ROMINA
DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)
Evidence of the existence of at least a fourth locus for ADNFLE
2002 Combi, R; Duga, S; Asselta, R; Boi, S; Oldani, A; Zucconi, M; Ferini-Strambi, L; Malcovati, M; Dalpra, L; Tenchini, M
Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families
2002 Bonati, M; Combi, R; Asselta, R; Duga, S; Malcovati, M; Oldani, A; Zucconi, M; Ferini Strambi, L; Dalpra', L; Tenchini, M
Autosomal dominant nocturnal frontal lobe epilepsy - A critical overview
2004 Combi, R; Dalpra', L; Tenchini, M; Ferini Strambi, L
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy
2004 Combi, R; Dalpra', L; Malcovati, M; Oldani, A; Tenchini, M; Ferini Strambi, L
Two new putative loci for ADNFLE identified in an Italian family suggest a digenic inheritance for the disease
2005 Combi, R; Dalpra', L; Ferini Strambi, L; Tenchini, M
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene
2005 Combi, R; Dalpra', L; Ferini Strambi, L; Tenchini, M
Two new susceptibility loci for ADNFLE
2005 Combi, R; Ferini Strambi, L; Montruccoli, A; Bianchi, V; Malcovati, M; Zucconi, M; Dalpra', L; Tenchini, M
Maternal polymorphisms for methyltetrahydrofolate reductase (MTHFR) and methioninesynthetasi-reductase (MTRR) and risk of children with down syndrome: A geographic effect?
2006 Pozzi, E; Vergani, P; Dalpra', L; Combi, R; Crosti, F; Dell'Orto, M; Gozzi, M
Clinical and genetic familial study of 61 children showing different epileptic phenotypes.
2007 Combi, R; Redaelli, S; Grioni, D; Contri, M; Barisani, D; Lavitrano, M; Tredici, G; Tenchini, M; Bertolini, M; Dalpra', L
Corticotropin releasing hormone in frontal lobe epilepsy
2007 Combi, R
Gene Symbol: SCN1A
2007 Combi, R; Grioni, D; Tenchini, M; Bertolini, M; Tredici, G; Dalpra', L
Clinical and genetic evaluation of a family showing both autism and epilepsy
2008 Combi, R; Redaelli, S; Provenzi, M; Cornaggia, C; Dalpra', L
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russel syndrome
2008 Combi, R; Sala, E; Villa, N; Crosti, F; Beccaria, L; Cogliardi, A; Tenchini, M; Dalpra', L
Compound heterozygosity with dominance in the CRH (Corticotropin Releasing Hormone)promoter in a case of nocturnal frontal lobe epilepsy
2008 Combi, R; Ferini Strambi, L; Tenchini, M
Distinct pools of cancer stem-like cells coexist within human glioblastomas and display different tumorigenicity and independent genomic evolution
2009 Piccirillo, S; Combi, R; Cajola, L; Patrizi, A; Redaelli, S; Bentivegna, A; Baronchelli, S; Maira, G; Pollo, B; Mangiola, A; Dimeco, F; Dalpra', L; Vescovi, A
CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients
2009 Combi, R; Ferini Strambi, L; Tenchini, M
Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome
2009 Pozzi, E; Vergani, P; Dalpra', L; Combi, R; Silvestri, D; Crosti, F; Dell’Orto, M; Valsecchi, M
Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy
2009 Combi, R; Grioni, D; Contri, M; Redaelli, S; Redaelli, F; Bassi, M; Barisani, D; Lavitrano, M; Tredici, G; Tenchini, M; Bertolini, M; Dalpra', L
A rescuable folding defective Nav1.1 (SCN1A) Na+channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?
2009 Rusconi, R; Combi, R; Cestèle, S; Grioni, D; Franceschetti, S; Dalpra', L; Mantegazza, M
Study of the genetic basis of autosomal dominant nocturnal frontal lobe epilepsy
2010 Sansoni, V; Bouchardy, I; Picard, F; Combi, R