NARDELLO, Rosaria

NARDELLO, Rosaria  

Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”  

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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.