NARDELLO, Rosaria
NARDELLO, Rosaria
Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster
2022-04-01 Mangano GD; Antona V; Calì E; Fontana A; Salpietro V; Houlden H; Veggiotti P; Nardello R
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
2022-10-01 Elisa Calì , Sheng-Jia Lin , Clarissa Rocca , Yavuz Sahin , Aisha Al Shamsi , Salima El Chehadeh , Myriam Chaabouni , Kshitij Mankad , Evangelia Galanaki , Stephanie Efthymiou , Sniya Sudhakar , Alkyoni Athanasiou-Fragkouli , Tamer Çelik , Nejat Narlı , Sebastiano Bianca , David Murphy , Francisco Martins De Carvalho Moreira ; SYNaPS Study Group; Andrea Accogli , Cassidy Petree , Kevin Huang , Kamel Monastiri , Masoud Edizadeh , Rosaria Nardello, Marzia Ognibene , Patrizia De Marco , Martino Ruggieri , Federico Zara , Pasquale Striano , Yavuz Şahin , Lihadh Al-Gazali , Marie Therese Abi Warde , Benedicte Gerard , Giovanni Zifarelli , Christian Beetz , Sara Fortuna , Miguel Soler , Enza Maria Valente , Gaurav Varshney , Reza Maroofian , Vincenzo Salpietro , Henry Houlden ,
A new case of Worster-Drought syndrome
2012-01-01 Spitaleri, C; Caramella, F; Glorioso, P; Nardello, R; Fontana, A; Mangano, S
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability
2015-01-01 Miceli, F; Striano, P; Soldovieri, MV; Fontana, A; Nardello, R; Robiano, A; Bellini, G; Elia, M; Zara, F; Taglialatela, M; Mangano, S
A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome
2019-01-01 Piro, Ettore; Nardello, Rosaria; Gennaro, Elena; Fontana, Antonina; Taglialatela, Maurizio; Mangano, Giuseppe Donato; Corsello, Giovanni; Mangano, Salvatore
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
2018-01-01 Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
2021-01-01 Nardello R.; Antona V.; Mangano G.D.; Salpietro V.; Mangano S.; Fontana A.
Adolescent Deviance and Criminal Responsibility in the Italian Judicial System
2010-01-01 NARDELLO, R; COMPAGNO, A
Age-dependent Epileptic Encephalopathy Associated With an Unusual Co-Occurrence of ZEB2 and SCN1A Variants
2020-01-01 Nardello, R; Fontana, A; Mangano, GD; Efthymiou, S; Salpietro, V; Houlden, H; Mangano, S
Alcool e giovani
2010-01-01 Saladino, M; Nardello, R.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019-01-01 Salpietro V; Dixon CL; Guo H; Bello OD; Vandrovcova J; Efthymiou S; Maroofian R; Heimer G; Burglen L; Valence S; Torti E; Hacke M; Rankin J; Tariq H; Colin E; Procaccio V; Striano P; Mankad K; Lieb A; Chen S; Pisani L; Bettencourt C; Männikkö R; Manole A; Brusco A; Grosso E; Ferrero GB; Armstrong-Moron J; Gueden S; Bar-Yosef O; Tzadok M; Monaghan KG; Santiago-Sim T; Person RE; Cho MT; Willaert R; Yoo Y; Chae JH; Quan Y; Wu H; Wang T; Bernier RA; Xia K; Blesson A; Jain M; Motazacker MM; Jaeger B; Schneider AL; Boysen K; Muir AM; Myers CT; Gavrilova RH; Gunderson L; Schultz-Rogers L; Klee EW; Dyment D; Osmond M; Parellada M; Llorente C; Gonzalez-Peñas J; Carracedo A; Van Haeringen A; Ruivenkamp C; Nava C; Heron D; Nardello R; Iacomino M;; Minetti C; Skabar A; Fabretto A; SYNAPS Study Group; Raspall-Chaure M; Chez M; Tsai A; Fassi E; Shinawi M; Constantino JN; De Zorzi R; Fortuna S; Kok F; Keren B; Bonneau D; Choi M; Benzeev B; Zara F; Mefford HC; Scheffer IE; Clayton-Smith J; Macaya A; Rothman JE; Eichler EE; Kullmann DM; Houlden H
Ansia e depressione in bambini e adolescenti con epilessia del lobo frontale e temporale: risultati preliminari di uno studio caso-controllo
2005-01-01 NARDELLO R; R SCOPELLITI; C CARBONARO; G TERRANOVA; S MANGANO
Autism spectrum disorder in Italy: demand for an integrated epidemiological surveillance system.
2016-01-01 Mazzucco, W.; Tumminello, M.; Nardello, R.; Giambalvo, O.; Cicala, V.; Lo Bianco, L.; Turrisi, A.; Casuccio, A.; Agrò, G.
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?
2020-01-01 Nardello R, Mangano GD, Miceli F, Fontana A, Piro E, Salpietro V.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
2024-01-04 Vincenzo Salpietro, Reza Maroofian, Maha S Zaki, Jamie Wangen, Andrea Ciolfi, Sabina Barresi, Stephanie Efthymiou, Angelique Lamaze, Gabriel N Aughey, Fuad Al Mutairi, Aboulfazl Rad, Clarissa Rocca, Elisa Calì, Andrea Accogli, Federico Zara, Pasquale Striano, Majid Mojarrad, Huma Tariq, Edoardo Giacopuzzi , Jenny C Taylor, Gabriela Oprea, Volha Skrahin, Khalil Ur Rehman, Marwa Abd Elmaksoud, Mahmoud Bassiony, Huda G El Said, Mohamed S Abdel-Hamid, Maha Al Shalan, Gohun Seo, Sohyun Kim, Hane Lee, Rin Khang, Mahmoud Y Issa, Hasnaa M Elbendary, Karima Rafat, Nikolaos M Marinakis, Joanne Traeger-Synodinos, Athina Ververi, Mara Sourmpi, Atieh Eslahi, Farhad Khadivi Zand, Mehran Beiraghi Toosi, Meisam Babaei, Adam Jackson; SYNAPS Study Group; Aida Bertoli-Avella, Alistair T Pagnamenta, Marcello Niceta, Roberta Battini, Antonio Corsello, Chiara Leoni, Francesco Chiarelli, Bruno Dallapiccola, Eissa Ali Faqeih, Krishnaraya K Tallur, Majid Alfadhel, Eman Alobeid, Sateesh Maddirevula, Kshitij Mankad, Siddharth Banka, Ehsan Ghayoor-Karimiani, Marco Tartaglia, Wendy K Chung, Rachel Green, Fowzan S Alkuraya, James E C Jepson, Henry Houlden, Rosaria Nardello
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.
2021-02-01 Nardello R, Mangano GD, Fontana A, Gagliardo C, Midiri F, Borgia P, Brighina F, Raieli V, Mangano S, Salpietro V.
Cefalea e Sindrome di Klinefelter: quale correlazione?
2012-01-01 NARDELLO, R; Maltese, A; Pitino, R; Fontana, A; Mangano, S
Child abuse in a medical setting: Case illustrations of two variants of munchausen sindrome by proxy
2017-01-01 Lanzarone, Antonietta*; Nardello, Rosaria; Conti, Eugenia; Zerbo, Stefania; Argo, Antonina
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
2022-01-01 Mangano G.D.; Fontana A.; Antona V.; Salpietro V.; Mangano G.R.; Giuffre M.; Nardello R.
De novo GRIN2A variants associated with epilepsy and autism and literature review
2022-02-23 Mangano G.D.; Riva A.; Fontana A.; Salpietro V.; Mangano G.R.; Nobile G.; Orsini A.; Iacomino M.; Battini R.; Astrea G.; Striano P.; Nardello R.
| Data di pubblicazione | Titolo | Autori | Tipologia | Autore(i) | File |
|---|---|---|---|---|---|
| 1-apr-2022 | A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster | Mangano GDAntona VFontana ANardello R + | 01 - Contributo in rivista::1.01 Articolo in rivista | Mangano GD; Antona V; Calì E; Fontana A; Salpietro V; Houlden H; Veggiotti P; Nardello R | |
| 1-ott-2022 | A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. | Rosaria Nardello + | 01 - Contributo in rivista::1.01 Articolo in rivista | Elisa Calì , Sheng-Jia Lin , Clarissa Rocca , Yavuz Sahin , Aisha Al Shamsi , Salima El Chehadeh , Myriam Chaabouni , Kshitij Mankad , Evangelia Galanaki , Stephanie Efthymiou , Sniya Sudhakar , Alkyoni Athanasiou-Fragkouli , Tamer Çelik , Nejat Narlı , Sebastiano Bianca , David Murphy , Francisco Martins De Carvalho Moreira ; SYNaPS Study Group; Andrea Accogli , Cassidy Petree , Kevin Huang , Kamel Monastiri , Masoud Edizadeh , Rosaria Nardello, Marzia Ognibene , Patrizia De Marco , Martino Ruggieri , Federico Zara , Pasquale Striano , Yavuz Şahin , Lihadh Al-Gazali , Marie Therese Abi Warde , Benedicte Gerard , Giovanni Zifarelli , Christian Beetz , Sara Fortuna , Miguel Soler , Enza Maria Valente , Gaurav Varshney , Reza Maroofian , Vincenzo Salpietro , Henry Houlden , | |
| 1-gen-2012 | A new case of Worster-Drought syndrome | NARDELLO, RosariaFONTANA, AntoninaMANGANO, Salvatore + | 10 - Proceedings::Proceedings | Spitaleri, C; Caramella, F; Glorioso, P; Nardello, R; Fontana, A; Mangano, S | |
| 1-gen-2015 | A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability | FONTANA, AntoninaNARDELLO, RosariaMANGANO, Salvatore + | 01 - Contributo in rivista::1.01 Articolo in rivista | Miceli, F; Striano, P; Soldovieri, MV; Fontana, A; Nardello, R; Robiano, A; Bellini, G; Elia, M; Zara, F; Taglialatela, M; Mangano, S | |
| 1-gen-2019 | A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome | Piro, EttoreNardello, RosariaFontana, AntoninaMangano, Giuseppe DonatoCorsello, GiovanniMangano, Salvatore + | 01 - Contributo in rivista::1.01 Articolo in rivista | Piro, Ettore; Nardello, Rosaria; Gennaro, Elena; Fontana, Antonina; Taglialatela, Maurizio; Mangano, Giuseppe Donato; Corsello, Giovanni; Mangano, Salvatore | |
| 1-gen-2018 | A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. | Nardello RFontana AAntona VBeninati AMangano GDMangano S + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S | |
| 1-gen-2021 | A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes | Nardello R.Antona V.Mangano G. D.Mangano S.Fontana A. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello R.; Antona V.; Mangano G.D.; Salpietro V.; Mangano S.; Fontana A. | |
| 1-gen-2010 | Adolescent Deviance and Criminal Responsibility in the Italian Judicial System | NARDELLO, Rosaria + | 01 - Contributo in rivista::1.01 Articolo in rivista | NARDELLO, R; COMPAGNO, A | |
| 1-gen-2020 | Age-dependent Epileptic Encephalopathy Associated With an Unusual Co-Occurrence of ZEB2 and SCN1A Variants | Nardello, RFontana, AMangano, GDMangano, S + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello, R; Fontana, A; Mangano, GD; Efthymiou, S; Salpietro, V; Houlden, H; Mangano, S | |
| 1-gen-2010 | Alcool e giovani | NARDELLO, Rosaria + | 01 - Contributo in rivista::1.01 Articolo in rivista | Saladino, M; Nardello, R. | |
| 1-gen-2019 | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders | Nardello R + | 01 - Contributo in rivista::1.01 Articolo in rivista | Salpietro V; Dixon CL; Guo H; Bello OD; Vandrovcova J; Efthymiou S; Maroofian R; Heimer G; Burglen L; Valence S; Torti E; Hacke M; Rankin J; Tariq H; Colin E; Procaccio V; Striano P; Mankad K; Lieb A; Chen S; Pisani L; Bettencourt C; Männikkö R; Manole A; Brusco A; Grosso E; Ferrero GB; Armstrong-Moron J; Gueden S; Bar-Yosef O; Tzadok M; Monaghan KG; Santiago-Sim T; Person RE; Cho MT; Willaert R; Yoo Y; Chae JH; Quan Y; Wu H; Wang T; Bernier RA; Xia K; Blesson A; Jain M; Motazacker MM; Jaeger B; Schneider AL; Boysen K; Muir AM; Myers CT; Gavrilova RH; Gunderson L; Schultz-Rogers L; Klee EW; Dyment D; Osmond M; Parellada M; Llorente C; Gonzalez-Peñas J; Carracedo A; Van Haeringen A; Ruivenkamp C; Nava C; Heron D; Nardello R; Iacomino M;; Minetti C; Skabar A; Fabretto A; SYNAPS Study Group; Raspall-Chaure M; Chez M; Tsai A; Fassi E; Shinawi M; Constantino JN; De Zorzi R; Fortuna S; Kok F; Keren B; Bonneau D; Choi M; Benzeev B; Zara F; Mefford HC; Scheffer IE; Clayton-Smith J; Macaya A; Rothman JE; Eichler EE; Kullmann DM; Houlden H | |
| 1-gen-2005 | Ansia e depressione in bambini e adolescenti con epilessia del lobo frontale e temporale: risultati preliminari di uno studio caso-controllo | NARDELLO, RosariaMANGANO, Salvatore + | 10 - Proceedings::Proceedings | NARDELLO R; R SCOPELLITI; C CARBONARO; G TERRANOVA; S MANGANO | |
| 1-gen-2016 | Autism spectrum disorder in Italy: demand for an integrated epidemiological surveillance system. | Mazzucco, W.Tumminello, M.Nardello, R.Giambalvo, O.Cicala, V.Casuccio, A.Agrò, G. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Mazzucco, W.; Tumminello, M.; Nardello, R.; Giambalvo, O.; Cicala, V.; Lo Bianco, L.; Turrisi, A.; Casuccio, A.; Agrò, G. | |
| 1-gen-2020 | Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? | Nardello RMangano GDFontana APiro E + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello R, Mangano GD, Miceli F, Fontana A, Piro E, Salpietro V. | |
| 4-gen-2024 | Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome | Marcello NicetaRosaria Nardello + | 01 - Contributo in rivista::1.01 Articolo in rivista | Vincenzo Salpietro, Reza Maroofian, Maha S Zaki, Jamie Wangen, Andrea Ciolfi, Sabina Barresi, Stephanie Efthymiou, Angelique Lamaze, Gabriel N Aughey, Fuad Al Mutairi, Aboulfazl Rad, Clarissa Rocca, Elisa Calì, Andrea Accogli, Federico Zara, Pasquale Striano, Majid Mojarrad, Huma Tariq, Edoardo Giacopuzzi , Jenny C Taylor, Gabriela Oprea, Volha Skrahin, Khalil Ur Rehman, Marwa Abd Elmaksoud, Mahmoud Bassiony, Huda G El Said, Mohamed S Abdel-Hamid, Maha Al Shalan, Gohun Seo, Sohyun Kim, Hane Lee, Rin Khang, Mahmoud Y Issa, Hasnaa M Elbendary, Karima Rafat, Nikolaos M Marinakis, Joanne Traeger-Synodinos, Athina Ververi, Mara Sourmpi, Atieh Eslahi, Farhad Khadivi Zand, Mehran Beiraghi Toosi, Meisam Babaei, Adam Jackson; SYNAPS Study Group; Aida Bertoli-Avella, Alistair T Pagnamenta, Marcello Niceta, Roberta Battini, Antonio Corsello, Chiara Leoni, Francesco Chiarelli, Bruno Dallapiccola, Eissa Ali Faqeih, Krishnaraya K Tallur, Majid Alfadhel, Eman Alobeid, Sateesh Maddirevula, Kshitij Mankad, Siddharth Banka, Ehsan Ghayoor-Karimiani, Marco Tartaglia, Wendy K Chung, Rachel Green, Fowzan S Alkuraya, James E C Jepson, Henry Houlden, Rosaria Nardello | |
| 1-feb-2021 | Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome. | Nardello RMangano GDFontana AGagliardo CMidiri FBrighina FMangano S + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello R, Mangano GD, Fontana A, Gagliardo C, Midiri F, Borgia P, Brighina F, Raieli V, Mangano S, Salpietro V. | |
| 1-gen-2012 | Cefalea e Sindrome di Klinefelter: quale correlazione? | NARDELLO, Rosaria + | 10 - Proceedings::Proceedings | NARDELLO, R; Maltese, A; Pitino, R; Fontana, A; Mangano, S | |
| 1-gen-2017 | Child abuse in a medical setting: Case illustrations of two variants of munchausen sindrome by proxy | Lanzarone, AntoniettaNardello, RosariaCONTI, EugeniaZerbo, StefaniaArgo, Antonina | 01 - Contributo in rivista::1.01 Articolo in rivista | Lanzarone, Antonietta*; Nardello, Rosaria; Conti, Eugenia; Zerbo, Stefania; Argo, Antonina | |
| 1-gen-2022 | Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review | Mangano G. D.Fontana A.Antona V.Mangano G. R.Giuffre M.Nardello R. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Mangano G.D.; Fontana A.; Antona V.; Salpietro V.; Mangano G.R.; Giuffre M.; Nardello R. | |
| 23-feb-2022 | De novo GRIN2A variants associated with epilepsy and autism and literature review | Mangano G. D.Fontana A.Mangano G. R.Nobile G.Nardello R. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Mangano G.D.; Riva A.; Fontana A.; Salpietro V.; Mangano G.R.; Nobile G.; Orsini A.; Iacomino M.; Battini R.; Astrea G.; Striano P.; Nardello R. |