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 1, Sheng-Jia Lin 2, Clarissa Rocca 1, Yavuz Sahin 3, Aisha Al Shamsi 4, Salima El Chehadeh 5, Myriam Chaabouni 6, Kshitij Mankad 7, Evangelia Galanaki 1, Stephanie Efthymiou 1, Sniya Sudhakar 7, Alkyoni Athanasiou-Fragkouli 1, Tamer Çelik 8, Nejat Narlı 9, Sebastiano Bianca 10, David Murphy 11, Francisco Martins De Carvalho Moreira 12; SYNaPS Study Group; Andrea Accogli 13, Cassidy Petree 2, Kevin Huang 2, Kamel Monastiri 14, Masoud Edizadeh 3, Rosaria Nardello 11, Marzia Ognibene 15, Patrizia De Marco 15, Martino Ruggieri 16, Federico Zara 17, Pasquale Striano 18, Yavuz Şahin 19, Lihadh Al-Gazali 20, Marie Therese Abi Warde 21, Benedicte Gerard 22, Giovanni Zifarelli 23, Christian Beetz 23, Sara Fortuna 24, Miguel Soler 25, Enza Maria Valente 26, Gaurav Varshney 2, Reza Maroofian 1, Vincenzo Salpietro 27, Henry Houlden 1, Nardello. Rosaria
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. | Nardello. Rosaria + | 01 - Contributo in rivista::1.01 Articolo in rivista | Elisa Calì 1, Sheng-Jia Lin 2, Clarissa Rocca 1, Yavuz Sahin 3, Aisha Al Shamsi 4, Salima El Chehadeh 5, Myriam Chaabouni 6, Kshitij Mankad 7, Evangelia Galanaki 1, Stephanie Efthymiou 1, Sniya Sudhakar 7, Alkyoni Athanasiou-Fragkouli 1, Tamer Çelik 8, Nejat Narlı 9, Sebastiano Bianca 10, David Murphy 11, Francisco Martins De Carvalho Moreira 12; SYNaPS Study Group; Andrea Accogli 13, Cassidy Petree 2, Kevin Huang 2, Kamel Monastiri 14, Masoud Edizadeh 3, Rosaria Nardello 11, Marzia Ognibene 15, Patrizia De Marco 15, Martino Ruggieri 16, Federico Zara 17, Pasquale Striano 18, Yavuz Şahin 19, Lihadh Al-Gazali 20, Marie Therese Abi Warde 21, Benedicte Gerard 22, Giovanni Zifarelli 23, Christian Beetz 23, Sara Fortuna 24, Miguel Soler 25, Enza Maria Valente 26, Gaurav Varshney 2, Reza Maroofian 1, Vincenzo Salpietro 27, Henry Houlden 1, Nardello. Rosaria | |
| 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. |