A FURTHER FAMILY WITH EPILEPSY, DEMENTIA AND YELLOW TEETH - THE KOHLSCHUTTER SYNDROME
1995-01-01 Musumeci, Sa; Elia, M; Ferri, R; Romano, C; Scuderi, C; Delgracco, S
Prostate Cancer detection at repeat biopsy: can pelvic phased array multiparametric MRI replace saturation biopsy?
2013-01-01 Pepe, Pietro; Garufi, Antonio; Priolo, Giandomenico; Candiano, Giuseppe; Pietropaolo, Francesco; Pennisi, Michele; e francesco aragona, filippo fraggetta
Autism: evidence of association with adenosine deaminase genetic polymorphism
2001-01-01 Bottini, N; De Luca, D; Saccucci, P; Fiumara, A; Elia, M; Porfirio, Mc; Lucarelli, P; Curatolo, P
Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations
2013-01-01 Michelucci, Roberto; Pasini, Elena; Malacrida, Sandro; Striano, Pasquale; Di Bonaventura, Carlo; Pulitano, Patrizia; Bisulli, Francesca; Egeo, Gabriella; Santulli, Lia; Sofia, Vito; Gambardella, Antonio; Elia, M; de Falco, Arturo; la Neve, Angela; Banfi, Paola; Coppola, Giangennaro; Avoni, Patrizia; Binelli, Simona; Boniver, Clementina; Pisano, Tiziana; Marchini, Marco; Dazzo, Emanuela; Fanciulli, Manuela; Bartolini, Yerma; Riguzzi, Patrizia; Volpi, Lilia; de Falco Fabrizio, A.; Giallonardo Anna, Teresa; Mecarelli, Oriano; Striano, Salvatore; Tinuper, Paolo; Nobile, Carlo
Polysomnographic abnormalities in patients with vascular cognitive impairment-no dementia
2013-01-01 Jiang, Bo; Ding, Chengyun; Yao, Guoen; Yao, Cunshan; Zhang, Yunyan; Ge, Junling; Qiu, Enchao; Elia, M; Ferri, Raffaele
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene
2022-01-01 Vinci, Mirella; Kursula, Petri; Greco, Donatella; Elia, Maurizio; Vetri, Luigi; Schepis, Carmelo; Chiavetta, Valeria; Donadio, Serena; Roccella, Michele; Carotenuto, Marco; Romano, Valentino; Calì, Francesco
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies
2024-01-01 Vetri, Luigi; Calì, Francesco; Saccone, Salvatore; Vinci, Mirella; Chiavetta, Natalia Valeria; Carotenuto, Marco; Roccella, Michele; Costanza, Carola; Elia, Maurizio
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders
2024-01-01 Treccarichi, Simone; Calì, Francesco; Vinci, Mirella; Ragalmuto, Alda; Musumeci, Antonino; Federico, Concetta; Costanza, Carola; Bottitta, Maria; Greco, Donatella; Saccone, Salvatore; Elia, Maurizio
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy
2023-01-01 Vinci, Mirella; Costanza, Carola; Galati Rando, Rosanna; Treccarichi, Simone; Saccone, Salvatore; Carotenuto, Marco; Roccella, Michele; Calì, Francesco; Elia, Maurizio; Vetri, Luigi
Felbamate in therapy-resistant epilepsy: An Italian experience
1996-01-01 Avanzini, G; Canger, R; Dallabernardina, B; Vigevano, F; Aguglia, U; Albano, C; Antonini, L; Battaglia, S; Battino, D; Benna, P; Besana, D; Antonelli, C; Binelli, S; Biondi, R; Boniver, C; Buti, D; Canziani, F; Capovilla, G; Casara, G; Casazza, M; Cernibori, A; Chindemi, A; Cianchetti, C; Cilio, Mr; Coppola, G; Cremonte, M; Dagostino, V; Daniele, O; Demarco, P; Demaria, G; Dicosmo, F; Diperri, R; Durisotti, C; Elia, M; Fois, A; Fontana, E; Franceschetti, S; Gaggero, R; Galeone, D; Gallitto, G; Gianelli, L; Rossi, Pg; Giubergia, S; Gobbi, G; Guarneri, B; Laselva, L; Lanzi, G; Laurienzo, P; Lenti, C; Lunardi, G; Magaudda, A; Mangano, S; Marchini, C; Mecarelli, O; Michelucci, R; Muscas, Gc; Musetti, L; Musolino, R; Mutani, R; Parmeggiani, A; Pascotto, A; Pasquinelli, A; Pelliccia, A; Perniola, T; Pisani, F; Porta, M; Radice, L; Ricci, Gf; Ricci, S; Romeo, A; Rozza, L; Rozzi, N; Santucci, M; Sardella, M; Sasso, E; Severi, S; Sgro, V; Sofia, V; Specchio, L; Spreafico, R; Striano, S; Tassinari, C; Tiacci, C; Tiberti, A; Tinuper, P; Torelli, D; Tortorella, G; Valseriati, D; Veggiotti, P; Viani, F; Vignoli, A; Viri, M; Volpi, L; Zaccara, G; Zagnoni, P; Zambrino, A; Zappoli, R; Zucca, C; Zuddas, A; Bonardi, R; Jensen, P; Kwan, R; Teoh, N
Sleep in subjects with autistic disorder: a neurophysiological and psychological study
2000-01-01 Elia, M; Ferri, R; Musumeci, Sa; Del Gracco, S; Bottitta, M; Scuderi, C; Miano, G; Panerai, S; Bertrand, T; Grubar, Jc
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
2009-01-01 Marini, C; Scheffer, Ie; Nabbout, R; Mei, D; Cox, K; Dibbens, Lm; Mcmahon, Jm; Iona, X; Carpintero, Rs; Elia, M; Cilio, Mr; Specchio, N; Giordano, L; Striano, P; Gennaro, E; Cross, Jh; Kivity, S; Neufeld, My; Afawi, Z; Andermann, E; Keene, D; Dulac, O; Zara, F; Berkovic, Sf; Guerrini, R; Mulley, Jc
Does a peculiar EEG pattern exist also for FRAXE mental retardation?
2000-01-01 Musumeci, Sa; Scuderi, C; Ferri, R; Anello, G; Salluzzo, R; Bosco, P; Elia, M
Different EEG frequency band synchronization during nocturnal frontal lobe seizures
2004-01-01 Ferri, R; Stam, Cj; Lanuzza, B; Cosentino, Fii; Elia, M; Musumeci, Sa; Pennisi, G
Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation
2006-01-01 Di Bella, Ma; Cali, F; Seidita, G; Mirisola, M; Ragusa, A; Ragalmuto, A; Galesi, O; Elia, M; Greco, D; Zingale, M; Gambino, G; D'Anna, Rp; Regan, R; Carbone, Mc; Gallo, A; Romano, V
Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome
2003-01-01 Borgatti, R; Piccinelli, P; Passoni, D; Romeo, A; Viri, M; Musumeci, Sa; Elia, M; Cogliati, T; Valseriati, D; Grasso, R; Raggi, Me; Ferrarese, C
Partial monosomy Xq(Xq23 -> qter) and trisomy 4p(4p15.33 -> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features
2008-01-01 Bartocci, A; Striano, P; Mancardi, Mm; Fichera, M; Castiglia, L; Galesi, O; Michelucci, R; Elia, M
Electroclinical Features and Long-Term Outcome of Cryptogenic Epilepsy in Children with Down Syndrome
2013-01-01 Verrotti, Alberto; Cusmai, Raffaella; Nicita, Francesco; Pizzolorusso, Antonella; Elia, M; Zamponi, Nelia; Cesaroni, Elisabetta; Granata, Tiziana; De Giorgi, Ilaria; Giordano, Lucio; Grosso, Salvatore; Pavone, Piero; Franzoni, Emilio; Coppola, Giangennaro; Cerminara, Caterina; Curatolo, Paolo; Savasta, Salvatore; Striano, Pasquale; Parisi, Pasquale; Romeo, Antonino; Spalice, Alberto
Sleep apnea in a patient with Becker Muscular Dystrophy
1997-01-01 Ferri, R; Azan, G; Cibella, F; Marrone, O; Sammarco, P; Delgracco, S; Elia, M; Musumeci, Sa; Stefanini, Mc
A t(4 ; 9)(q34 ; p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism
2005-01-01 Striano, P; Elia, M; Castiglia, L; Galesi, O; Pelligra, S; Striano, S
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A FURTHER FAMILY WITH EPILEPSY, DEMENTIA AND YELLOW TEETH - THE KOHLSCHUTTER SYNDROME | 1-gen-1995 | Musumeci, Sa; Elia, M; Ferri, R; Romano, C; Scuderi, C; Delgracco, S | |
| Prostate Cancer detection at repeat biopsy: can pelvic phased array multiparametric MRI replace saturation biopsy? | 1-gen-2013 | Pepe, Pietro; Garufi, Antonio; Priolo, Giandomenico; Candiano, Giuseppe; Pietropaolo, Francesco; Pennisi, Michele; e francesco aragona, filippo fraggetta | |
| Autism: evidence of association with adenosine deaminase genetic polymorphism | 1-gen-2001 | Bottini, N; De Luca, D; Saccucci, P; Fiumara, A; Elia, M; Porfirio, Mc; Lucarelli, P; Curatolo, P | |
| Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations | 1-gen-2013 | Michelucci, Roberto; Pasini, Elena; Malacrida, Sandro; Striano, Pasquale; Di Bonaventura, Carlo; Pulitano, Patrizia; Bisulli, Francesca; Egeo, Gabriella; Santulli, Lia; Sofia, Vito; Gambardella, Antonio; Elia, M; de Falco, Arturo; la Neve, Angela; Banfi, Paola; Coppola, Giangennaro; Avoni, Patrizia; Binelli, Simona; Boniver, Clementina; Pisano, Tiziana; Marchini, Marco; Dazzo, Emanuela; Fanciulli, Manuela; Bartolini, Yerma; Riguzzi, Patrizia; Volpi, Lilia; de Falco Fabrizio, A.; Giallonardo Anna, Teresa; Mecarelli, Oriano; Striano, Salvatore; Tinuper, Paolo; Nobile, Carlo | |
| Polysomnographic abnormalities in patients with vascular cognitive impairment-no dementia | 1-gen-2013 | Jiang, Bo; Ding, Chengyun; Yao, Guoen; Yao, Cunshan; Zhang, Yunyan; Ge, Junling; Qiu, Enchao; Elia, M; Ferri, Raffaele | |
| Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene | 1-gen-2022 | Vinci, Mirella; Kursula, Petri; Greco, Donatella; Elia, Maurizio; Vetri, Luigi; Schepis, Carmelo; Chiavetta, Valeria; Donadio, Serena; Roccella, Michele; Carotenuto, Marco; Romano, Valentino; Calì, Francesco | |
| Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies | 1-gen-2024 | Vetri, Luigi; Calì, Francesco; Saccone, Salvatore; Vinci, Mirella; Chiavetta, Natalia Valeria; Carotenuto, Marco; Roccella, Michele; Costanza, Carola; Elia, Maurizio | |
| Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders | 1-gen-2024 | Treccarichi, Simone; Calì, Francesco; Vinci, Mirella; Ragalmuto, Alda; Musumeci, Antonino; Federico, Concetta; Costanza, Carola; Bottitta, Maria; Greco, Donatella; Saccone, Salvatore; Elia, Maurizio | |
| STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy | 1-gen-2023 | Vinci, Mirella; Costanza, Carola; Galati Rando, Rosanna; Treccarichi, Simone; Saccone, Salvatore; Carotenuto, Marco; Roccella, Michele; Calì, Francesco; Elia, Maurizio; Vetri, Luigi | |
| Felbamate in therapy-resistant epilepsy: An Italian experience | 1-gen-1996 | Avanzini, G; Canger, R; Dallabernardina, B; Vigevano, F; Aguglia, U; Albano, C; Antonini, L; Battaglia, S; Battino, D; Benna, P; Besana, D; Antonelli, C; Binelli, S; Biondi, R; Boniver, C; Buti, D; Canziani, F; Capovilla, G; Casara, G; Casazza, M; Cernibori, A; Chindemi, A; Cianchetti, C; Cilio, Mr; Coppola, G; Cremonte, M; Dagostino, V; Daniele, O; Demarco, P; Demaria, G; Dicosmo, F; Diperri, R; Durisotti, C; Elia, M; Fois, A; Fontana, E; Franceschetti, S; Gaggero, R; Galeone, D; Gallitto, G; Gianelli, L; Rossi, Pg; Giubergia, S; Gobbi, G; Guarneri, B; Laselva, L; Lanzi, G; Laurienzo, P; Lenti, C; Lunardi, G; Magaudda, A; Mangano, S; Marchini, C; Mecarelli, O; Michelucci, R; Muscas, Gc; Musetti, L; Musolino, R; Mutani, R; Parmeggiani, A; Pascotto, A; Pasquinelli, A; Pelliccia, A; Perniola, T; Pisani, F; Porta, M; Radice, L; Ricci, Gf; Ricci, S; Romeo, A; Rozza, L; Rozzi, N; Santucci, M; Sardella, M; Sasso, E; Severi, S; Sgro, V; Sofia, V; Specchio, L; Spreafico, R; Striano, S; Tassinari, C; Tiacci, C; Tiberti, A; Tinuper, P; Torelli, D; Tortorella, G; Valseriati, D; Veggiotti, P; Viani, F; Vignoli, A; Viri, M; Volpi, L; Zaccara, G; Zagnoni, P; Zambrino, A; Zappoli, R; Zucca, C; Zuddas, A; Bonardi, R; Jensen, P; Kwan, R; Teoh, N | |
| Sleep in subjects with autistic disorder: a neurophysiological and psychological study | 1-gen-2000 | Elia, M; Ferri, R; Musumeci, Sa; Del Gracco, S; Bottitta, M; Scuderi, C; Miano, G; Panerai, S; Bertrand, T; Grubar, Jc | |
| SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis | 1-gen-2009 | Marini, C; Scheffer, Ie; Nabbout, R; Mei, D; Cox, K; Dibbens, Lm; Mcmahon, Jm; Iona, X; Carpintero, Rs; Elia, M; Cilio, Mr; Specchio, N; Giordano, L; Striano, P; Gennaro, E; Cross, Jh; Kivity, S; Neufeld, My; Afawi, Z; Andermann, E; Keene, D; Dulac, O; Zara, F; Berkovic, Sf; Guerrini, R; Mulley, Jc | |
| Does a peculiar EEG pattern exist also for FRAXE mental retardation? | 1-gen-2000 | Musumeci, Sa; Scuderi, C; Ferri, R; Anello, G; Salluzzo, R; Bosco, P; Elia, M | |
| Different EEG frequency band synchronization during nocturnal frontal lobe seizures | 1-gen-2004 | Ferri, R; Stam, Cj; Lanuzza, B; Cosentino, Fii; Elia, M; Musumeci, Sa; Pennisi, G | |
| Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation | 1-gen-2006 | Di Bella, Ma; Cali, F; Seidita, G; Mirisola, M; Ragusa, A; Ragalmuto, A; Galesi, O; Elia, M; Greco, D; Zingale, M; Gambino, G; D'Anna, Rp; Regan, R; Carbone, Mc; Gallo, A; Romano, V | |
| Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome | 1-gen-2003 | Borgatti, R; Piccinelli, P; Passoni, D; Romeo, A; Viri, M; Musumeci, Sa; Elia, M; Cogliati, T; Valseriati, D; Grasso, R; Raggi, Me; Ferrarese, C | |
| Partial monosomy Xq(Xq23 -> qter) and trisomy 4p(4p15.33 -> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features | 1-gen-2008 | Bartocci, A; Striano, P; Mancardi, Mm; Fichera, M; Castiglia, L; Galesi, O; Michelucci, R; Elia, M | |
| Electroclinical Features and Long-Term Outcome of Cryptogenic Epilepsy in Children with Down Syndrome | 1-gen-2013 | Verrotti, Alberto; Cusmai, Raffaella; Nicita, Francesco; Pizzolorusso, Antonella; Elia, M; Zamponi, Nelia; Cesaroni, Elisabetta; Granata, Tiziana; De Giorgi, Ilaria; Giordano, Lucio; Grosso, Salvatore; Pavone, Piero; Franzoni, Emilio; Coppola, Giangennaro; Cerminara, Caterina; Curatolo, Paolo; Savasta, Salvatore; Striano, Pasquale; Parisi, Pasquale; Romeo, Antonino; Spalice, Alberto | |
| Sleep apnea in a patient with Becker Muscular Dystrophy | 1-gen-1997 | Ferri, R; Azan, G; Cibella, F; Marrone, O; Sammarco, P; Delgracco, S; Elia, M; Musumeci, Sa; Stefanini, Mc | |
| A t(4 ; 9)(q34 ; p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism | 1-gen-2005 | Striano, P; Elia, M; Castiglia, L; Galesi, O; Pelligra, S; Striano, S |
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