MARIO MASTRANGELO

PhD Graduate

PhD program:: XXXI

Thesis title: Impostazione e validazione di un algoritmo diagnostico per le encefalopatie epilettiche ad esordio precoce su base genetico-metabolica

Research products

11573/1711979 - 2024 - CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

Dell'isola, Giovanni Battista; Antonella, Fattorusso; Pisani, Francesco; Mastrangelo, Mario; Cordelli, Duccio Maria; Piero, Pavone; Parisi, Pasquale; Ferretti, Alessandro; Operto, Francesca Felicia; Maurizio, Elia; Marco, Carotenuto; Dario, Pruna; Matricardi, Sara; Elisabetta, Spezia; Spalice, Alberto; Giovanna, Scorrano; Savasta, Salvatore; Prontera, Pier Paolo Edoardo; Di Cara, Giuseppe; Fruttini, Daniela; Vincenzo, Salpietro; Pasquale, Striano; Alberto, Verrotti - 01a Articolo in rivista

paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 1-10 - issn: 0340-5354 - wos: WOS:001249084800002 (1) - scopus: 2-s2.0-85196090389 (0)

11573/1724808 - 2024 - Un caso di stroke metabolico in una paziente con deficit di DHPR: il possibile ruolo dei folati cerebrali

Graziano, Roberta Teresa; Ricciardi, Giacomina; Mastrangelo, Mario; Pisani, Francesco; Leuzzi, Vincenzo - 04f Poster

conference: 30° Congresso Nazionale SINPIA, 3° Convegno Nazionale degli Specializzandi in Neuropsichiatria Infantile (Verona)

book: 30° Congresso Nazionale SINPIA, 3° Convegno Nazionale degli Specializzandi in Neuropsichiatria Infantile - ()

11573/1702532 - 2024 - L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

Juliá-Palacios, Natalia; Olivella, Mireia; Sigatullina Bondarenko, Mariya; Ibáñez-Micó, Salvador; Muñoz-Cabello, Beatriz; Alonso-Luengo, Olga; Soto-Insuga, Víctor; García-Navas, Deyanira; Cuesta-Herraiz, Laura; Andreo-Lillo, Patricia; Aguilera-Albesa, Sergio; Hedrera-Fernández, Antonio; González Alguacil, Elena; Sánchez-Carpintero, Rocío; Martín Del Valle, Fernando; Jiménez González, Erika; Cean Cabrera, Lourdes; Medina-Rivera, Ines; Perez-Ordoñez, Marta; Colomé, Roser; Lopez, Laura; Engracia Cazorla, María; Fornaguera, Montserrat; Ormazabal, Aida; Alonso-Colmenero, Itziar; Illescas, Katia Sofía; Balsells-Mejía, Sol; Mari-Vico, Rosanna; Duffo Viñas, Maria; Cappuccio, Gerarda; Terrone, Gaetano; Romano, Roberta; Manti, Filippo; Mastrangelo, Mario; Alfonsi, Chiara; De Siqueira Barros, Bruna; Nizon, Mathilde; Gjerulfsen, Cathrine Elisabeth; L Muro, Valeria; Karall, Daniela; Zeiner, Fiona; Masnada, Silvia; Peterlongo, Irene; Oyarzábal, Alfonso; Santos-Gómez, Ana; Altafaj, Xavier; García-Cazorla, Ángeles - 01l Trial clinico

paper: BRAIN (-Oxford: Oxford University Press -Oxford: Clarendon Press -London: Macmillan -London: Butterworths Scientific Publications, 1878-) pp. - - issn: 0006-8950 - wos: WOS:001206530700001 (3) - scopus: (0)

11573/1703907 - 2024 - Fenotipo epilettico e gestione terapeutica in un paziente con deficit di succinico semialdeide deidrogenasi: evoluzione dall’ infanzia all’ età adulta

Mastrangelo, Mario; Greco, Carlo; Bove, Rossella; Ricciardi, Giacomina; Pollini, Luca; Leuzzi, Vincenzo; Pisani, Francesco - 04d Abstract in atti di convegno

conference: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2024 (Roma)

book: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2024 - ()

11573/1711978 - 2024 - Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study

Mastrangelo, Mario; Greco, Carlo; Tolve, Manuela; Bartolini, Emanuele; Russo, Angelo; Nicita, Francesco; Pruna, Dario; Galli, Jessica; Favaro, Jacopo; Terrone, Gaetano; De Felice, Claudio; Pisani, Francesco - 01a Articolo in rivista

paper: SEIZURE (Elsevier B.V. London: Baillière Tindall, 1992-) pp. - - issn: 1059-1311 - wos: (0) - scopus: 2-s2.0-85195205220 (0)

11573/1701399 - 2024 - The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study

Mastrangelo, Mario; Manti, Filippo; Ricciardi, Giacomina; Bove, Rossella; Greco, Carlo; Tolve, Manuela; Pisani, Francesco - 01a Articolo in rivista

paper: EPILEPSY & BEHAVIOR ([San Diego, CA] : Elsevier B.V., c2000- San Diego, CA : Academic Press, c2000-) pp. 109670- - issn: 1525-5050 - wos: WOS:001182651000001 (0) - scopus: 2-s2.0-85184748084 (0)

11573/1714612 - 2024 - The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review

Mastrangelo, Mario; Manti, Filippo; Ricciardi, Giacomina; Cinnante, Elisa Maria Colacino; Cameli, Noemi; Beatrice, Annachiara; Tolve, Manuela; Pisani, Francesco - 01g Articolo di rassegna (Review)

paper: EUROPEAN JOURNAL OF PEDIATRICS (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. - - issn: 0340-6199 - wos: (0) - scopus: 2-s2.0-85197392178 (0)

11573/1690962 - 2023 - The impact of a newly established specialized pediatric epilepsy center in Tanzania: An observational study

Aricò, Miriam; Mastrangelo, Mario; Di Noia, Sofia Pia; Mabusi, Mgabo Siboti; Kalolo, Albino; Pisani, Francesco - 01a Articolo in rivista

paper: EPILEPSY & BEHAVIOR ([San Diego CA] : Elsevier B.V.) pp. 109454- - issn: 1525-5069 - wos: WOS:001088606100001 (0) - scopus: 2-s2.0-85173510126 (1)

11573/1701401 - 2023 - Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

Cursio, Ida; Siliquini, Sabrina; Carducci, Claudia; Bisello, Giovanni; Mastrangelo, Mario; Leuzzi, Vincenzo; Bertoldi, Mariarita; Marini, Carla - 01a Articolo in rivista

paper: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 1284339- - issn: 1664-2295 - wos: WOS:001130010900001 (2) - scopus: 2-s2.0-85180131408 (2)

11573/1690961 - 2023 - Natural course of IQSEC2-related encephalopathy. An Italian national structured survey

Leoncini, Silvia; Boasiako, Lidia; Lopergolo, Diego; Altamura, Maria; Fazzi, Caterina; Canitano, Roberto; Grosso, Salvatore; Meloni, Ilaria; Baldassarri, Margherita; Croci, Susanna; Renieri, Alessandra; Mastrangelo, Mario; De Felice, Claudio - 01a Articolo in rivista

paper: CHILDREN (Basel: MDPI AG, 2014-) pp. 1-29 - issn: 2227-9067 - wos: WOS:001075828200001 (1) - scopus: 2-s2.0-85172324024 (2)

11573/1702606 - 2023 - CLINICAL APPROACH TO GENETIC EPILEPSIES IN CHILDREN

Mastrangelo, Mario - 02a Capitolo o Articolo

book: COMMON PEDIATRIC DISEASES: CURRENT CHALLEGES, vol- 2. - ()

11573/1690965 - 2023 - Clinical profiles of acute arterial ischemic neonatal stroke

Mastrangelo, Mario; Bove, Rossella; Ricciardi, Giacomina; Giordo, Laura; Papoff, Paola; Turco, Emanuela; Lucente, Maria; Pisani, Francesco - 01a Articolo in rivista

paper: MINERVA PEDIATRICS (Torino: Minerva medica) pp. - - issn: 2724-5780 - wos: WOS:001145545500001 (0) - scopus: (0)

11573/1704477 - 2023 - Estensione del fenotipo epilettico nel deficit di diidropteridina reduttasi (DHPR): una paziente con pattern tipo Lennox-Gastaut e stato di male epilettico focale dopo stroke metabolico

Mastrangelo, Mario; Bove, Rossella; Ricciardi, Giacomina; Greco, Carlo; Gambardella, Antonio; Leuzzi, Vincenzo; Pisani, Francesco - 04d Abstract in atti di convegno

conference: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2023 (Roma)

book: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2023 - ()

11573/1708259 - 2023 - Ketogenic diet in pediatric epilepsies

Mastrangelo, Mario; Esposito, Dario; De Leo, Sabrina; Gigliotti, Federica - 02a Capitolo o Articolo

book: Diet and Nutrition in Neurological Disorders - ()

11573/1672356 - 2023 - Sudden unexpected death in epilepsy: The need for age-specific evidence-based prevention

Mastrangelo, Mario; Esposito, Dario; Pisani, Francesco - 01b Commento, Erratum, Replica e simili

paper: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (Cambridge University Press / New York:40 West 20th Street:New York, NY 10011:(800)872-7423, (212)924-3900, EMAIL: journals_subscriptions@cup.org, INTERNET: http://www.journals.cambridge.org, Fax: (212)691-3239) pp. - - issn: 0012-1622 - wos: WOS:000936993000001 (0) - scopus: 2-s2.0-85148475616 (0)

11573/1676166 - 2023 - Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review

Mastrangelo, Mario; Gasparri, Valentina; Bernardi, Katerina; Foglietta, Silvia; Ramantani, Georgia; Pisani, Francesco - 01g Articolo di rassegna (Review)

paper: CHILDREN (Basel: MDPI AG, 2014-) pp. 553- - issn: 2227-9067 - wos: WOS:000955560900001 (5) - scopus: 2-s2.0-85151136580 (9)

11573/1672355 - 2023 - Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism

Mastrangelo, Mario; Tolve, Manuela; Artiola, Cristiana; Bove, Rossella; Carducci, Claudia; Carducci, Carla; Angeloni, Antonio; Pisani, Francesco; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)

paper: GENES (Basel : Molecular Diversity Preservation International) pp. 263- - issn: 2073-4425 - wos: WOS:000944882300001 (3) - scopus: 2-s2.0-85148880318 (3)

11573/1665595 - 2023 - Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene

Rotundo, Giovannina; Turco, Elisa Maria; Ruotolo, Giorgia; Torrente, Isabella; Candido, Ornella; Lopez, Gianluca; Ferrari, Daniela; Caputi, Caterina; Mastrangelo, Mario; Pisani, Francesco; Gelati, Maurizio; Guarnieri, Vito; Vescovi, Angelo Luigi; Rosati, Jessica - 01a Articolo in rivista

paper: STEM CELL RESEARCH (Amsterdam : Elsevier) pp. 103023- - issn: 1876-7753 - wos: WOS:001010859600001 (1) - scopus: 2-s2.0-85146083988 (1)

11573/1690967 - 2023 - Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia. A Multicentric Cross-sectional Study

Toldo, I.; Brunello, F.; Cavasin, P.; Nosadini, M.; Sartori, S.; Frigo, A. C.; Mai, R.; Pelliccia, V.; Mancardi, M. M.; Striano, P.; Severino, M.; Zara, F.; Rizzi, R.; Casellato, S.; Di Rosa, G.; Mastrangelo, M.; Spalice, A.; Budetta, M.; De Palma, L.; Guerrini, R.; Pruna, D.; Cordelli, D. M.; Sofia, V.; Papa, A.; Chiesa, V.; Ragona, F.; Parisi, P.; D'aniello, A.; Veggiotti, P.; Dainese, F.; Giordano, L.; Licchetta, L.; Tinuper, P.; D'orsi, G.; Cassina, M.; Manara, R. - 01a Articolo in rivista

paper: PEDIATRIC NEUROLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 58-64 - issn: 0887-8994 - wos: WOS:000944781500001 (0) - scopus: 2-s2.0-85147807189 (0)

11573/1643097 - 2022 - LOSS OF CONTINUITY OF CARE IN PEDIATRIC NEUROLOGY SERVICES DURING COVID-19 LOCKDOWN: AN ADDITIONAL STRESSOR FOR PARENTS

Cesario, Serena; Abbracciavento, Giuseppe; Basile, Consuelo; Gigliotti, Federica; Manti, Filippo; Esposito, Rita Maria; Mastrangelo, Mario - 04d Abstract in atti di convegno

conference: 14th European Pediatric Neurology Society Congress (Glasgow)

book: 14th European Paediatric Neurology Society Congress - (978-3-00-072065-9)

11573/1648094 - 2022 - Loss of Continuity of Care in Pediatric Neurology Services during COVID-19 Lockdown: An Additional Stressor for Parents

Cesario, Serena; Basile, Consuelo; Trevisan, Matteo; Gigliotti, Federica; Manti, Filippo; Esposito, Rita Maria; Abbracciavento, Giuseppe; Mastrangelo, Mario - 01a Articolo in rivista

paper: CHILDREN (Basel: MDPI AG, 2014-) pp. 867- - issn: 2227-9067 - wos: WOS:000816459600001 (3) - scopus: 2-s2.0-85132172020 (4)

11573/1643100 - 2022 - Suggestive Seizure Induction technique in a pediatric PNES population related to neurocognitive and psychological profile: a pilot study.

Cesario, Serena; Esposito, Dario; Gigliotti, Federica; Baglioni, Valentina; Di Santo, Federica; Mastrangelo, Mario - 04d Abstract in atti di convegno

conference: 14th European Pediatric Neurology Society Congress (Glasgow)

book: 14th European Paediatric Neurology Society Congress - (978-3-00-072065-9)

11573/1624296 - 2022 - Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy

De Maria, B.; Balestrini, S.; Mei, D.; Melani, F.; Pellacani, S.; Pisano, T.; Rosati, A.; Scaturro, G. M.; Giordano, L.; Cantalupo, G.; Fontana, E.; Zammarchi, C.; Said, E.; Leuzzi, V.; Mastrangelo, M.; Galosi, S.; Parrini, E.; Guerrini, R. - 01a Articolo in rivista

paper: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 522-533 - issn: 1552-4825 - wos: WOS:000712329100001 (18) - scopus: 2-s2.0-85118224380 (18)

11573/1662950 - 2022 - Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

Faqeih, Eissa A; Alghamdi, Malak Ali; Almahroos, Marwa A; Alharby, Essa; Almuntashri, Makki; Alshangiti, Amnah M; Clément, Prouteau; Calame, Daniel G; Qebibo, Leila; Burglen, Lydie; Doco-Fenzy, Martine; Mastrangelo, Mario; Torella, Annalaura; Manti, Filippo; Nigro, Vincenzo; Alban, Ziegler; Alharbi, Ghadeer Saleh; Hashmi, Jamil Amjad; Alraddadi, Rawya; Alamri, Razan; Mitani, Tadahiro; Magalie, Barth; Coban-Akdemir, Zeynep; Geckinli, Bilgen Bilge; Pehlivan, Davut; Romito, Antonio; Karageorgou, Vasiliki; Martini, Javier; Colin, Estelle; Bonneau, Dominique; Bertoli-Avella, Aida; Lupski, James R; Pastore, Annalisa; Peake, Roy W A; Dallol, Ashraf; Alfadhel, Majid; Almontashiri, Naif A M - 01a Articolo in rivista

paper: GENETICS IN MEDICINE (New York: Elsevier Baltimore MD: Williams & Wilkins) pp. - - issn: 1098-3600 - wos: WOS:001029393500001 (2) - scopus: 2-s2.0-85142523320 (3)

11573/1653985 - 2022 - Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency

Manti, Filippo; Mastrangelo, Mario; Battini, Roberta; Carducci, Claudia; Spagnoli, Carlotta; Fusco, Carlo; Tolve, Manuela; Carducci, Carla; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 105-111 - issn: 1353-8020 - wos: WOS:000854718200006 (8) - scopus: 2-s2.0-85137622899 (9)

11573/1634085 - 2022 - Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications

Mastrangelo, M.; Ricciardi, G.; Giordo, L.; De Michele, M.; Toni, D.; Leuzzi, V. - 01g Articolo di rassegna (Review)

paper: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 3-14 - issn: 1096-7192 - wos: WOS:000752566300003 (9) - scopus: 2-s2.0-85122297608 (9)

11573/1690966 - 2022 - Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine

Mastrangelo, M.; Salpietro, V.; Sullivan, J. - 01m Editorial/Introduzione in rivista

paper: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. - - issn: 1664-2295 - wos: WOS:000876490500001 (0) - scopus: 2-s2.0-85140410200 (0)

11573/1634089 - 2022 - PRICKLE1-Related Disorders

Mastrangelo, M; Caputi, C.; Esposito, D.; Leuzzi, V. - 01g Articolo di rassegna (Review)

paper: GENEREVIEWS (GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;) pp. - - issn: - wos: (0) - scopus: (0)

11573/1654011 - 2022 - Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Mastrangelo, M; Galosi, S; Cesario, S; Renzi, A; Campea, L; Leuzzi, V. - 01a Articolo in rivista

paper: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. - - issn: 1664-2295 - wos: WOS:000820288300001 (3) - scopus: 2-s2.0-85133635447 (3)

11573/1654010 - 2022 - Paediatric sudden unexpected death in epilepsy: From pathophysiology to prevention

Mastrangelo, Mario; Esposito, Dario - 01a Articolo in rivista

paper: SEIZURE (Elsevier B.V. London: Baillière Tindall, 1992-) pp. - - issn: 1059-1311 - wos: WOS:000862844300003 (6) - scopus: 2-s2.0-85135556615 (5)

11573/1643087 - 2022 - PHENOTYIPING AND DIAGNOSTIC TIMING IN NGS-DIAGNOSED GENETIC DEVELOPMENTAL ENCEPHALOPATHIES WITH EPILEPSY AND MOVEMENT DISORDERS

Mastrangelo, Mario; Galosi, Serena; Cesario, Serena; Esposito, Rita Maria; Campea, Lucilla; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

conference: 14th European Pediatric Neurology Society Congress (Glasgow)

book: 14th European Paediatric Neurology Society Congress - (978-3-00-072065-9)

11573/1441538 - 2021 - Laparoscopic patch repair of a Morgagni hernia in Menkes disease

Ceccanti, Silvia; Mastrangelo, Mario; Andreoli, Gianmarco; Cozzi, Denis A - 01i Case report

paper: ASIAN JOURNAL OF ENDOSCOPIC SURGERY (-Richmond, Vic. ; [Oxford] : Blackwell Publishing Asia, [2008]- -[Richmond, Vic., Australia] : Wiley Publishing Asia Pty) pp. - - issn: 1758-5902 - wos: WOS:000568791500001 (1) - scopus: 2-s2.0-85111789952 (1)

11573/1564468 - 2021 - Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry

Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesus; Garbade, Sven F; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández Ramos, Joaquín Alejandro; García-Cazorla, Angeles; Hoffmann, Georg F; Kiat Hong, Stacey Tay; Honzík, Tomáš; Kavecan, Ivana; Kurian, Manju A; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo; Oppebøen, Mari; Pearson, Toni S; Sivri, H Serap; Steel, Dora; Stevanović, Galina; Fung, Cheuk-Wing - 01a Articolo in rivista

paper: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. - - issn: 0141-8955 - wos: WOS:000680000300001 (7) - scopus: 2-s2.0-85111968071 (7)

11573/1569596 - 2021 - Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Kuseyri Hübschmann, Oya; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Yıldız, Yılmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios I.; Kulhánek, Jan; Kurian, Manju A.; López-Laso, Eduardo; Oppebøen, Mari; Kılavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Bürgi, Sabine; Porta, Francesco; Honzík, Tomáš; Santer, René; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Hübschmann, Daniel; Garbade, Sven F.; Assmann, Birgit; Fung, Cheuk-Wing; Guder, Philipp; Hong, Stacey Tay Kiat; Karall, Daniela; Kato, Mitsuhiro; Kavecan, Ivana; Koht, Jeanette Aimee; Kuster, Alice; Lücke, Thomas; Manti, Filippo; Mir, Pablo; Mühlhausen, Chris; Önenli Mungan, Halise Neslihan; Palacios, Natalia Alexandra Julia; Ramos, Joaquín Alejandro Fernández; Steel, Dora; Stevanović, Galina; Sykut-Cegielska, Jolanta; Verbeek, Marcel M.; García-Cazorla, Angeles; Opladen, Thomas - 01a Articolo in rivista

paper: NATURE COMMUNICATIONS (London: Nature Publishing Group-Springer Nature) pp. - - issn: 2041-1723 - wos: WOS:000698606100017 (24) - scopus: 2-s2.0-85115881692 (26)

11573/1568966 - 2021 - Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins

Longo, C.; Montioli, R.; Bisello, G.; Palazzi, L.; Mastrangelo, M.; Brennenstuhl, H.; De Laureto, P. P.; Opladen, T.; Leuzzi, V.; Bertoldi, M. - 01a Articolo in rivista

paper: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. - - issn: 1096-7192 - wos: WOS:000714720400018 (11) - scopus: 2-s2.0-85114091401 (11)

11573/1568954 - 2021 - Management of Neurological Emergencies in Children: An Updated Overview

Mastrangelo, M.; Baglioni, V. - 01g Articolo di rassegna (Review)

paper: NEUROPEDIATRICS (Hippokrates Verlag GmbH:Postfach 300504, D-70445 Stuttgart Germany:011 49 711 89310, Fax: 011 49 711 8931706) pp. 242-251 - issn: 0174-304X - wos: WOS:000668314200005 (7) - scopus: 2-s2.0-85110260068 (8)

11573/1568958 - 2021 - Acute ischemic stroke in childhood: a comprehensive review

Mastrangelo, M.; Giordo, L.; Ricciardi, G.; De Michele, M.; Toni, D.; Leuzzi, V. - 01g Articolo di rassegna (Review)

11573/1475649 - 2021 - Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.

Mastrangelo, Mario - 01g Articolo di rassegna (Review)

paper: METABOLIC BRAIN DISEASE (Plenum Press:Book Customer Service, 233 Spring Street:New York, NY 10013:(212)620-8471, (212)620-8000, EMAIL: info@plenum.com, INTERNET: http://www.plenum.com, Fax: (212)807-1047) pp. - - issn: 0885-7490 - wos: WOS:000582094600001 (8) - scopus: 2-s2.0-85093929994 (13)

11573/1497121 - 2021 - TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis

Mastrangelo, Mario; Commone, Chiara; Greco, Carlo; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: NEUROPEDIATRICS (Hippokrates Verlag GmbH:Postfach 300504, D-70445 Stuttgart Germany:011 49 711 89310, Fax: 011 49 711 8931706) pp. 146-149 - issn: 0174-304X - wos: WOS:000617321600005 (2) - scopus: 2-s2.0-85101464808 (4)

11573/1704480 - 2021 - Una bambina con encefalopatia epilettica e dello sviluppo: un ruolo patogenetico per il gene PRMT8?

Mastrangelo, Mario; Greco, Carlo; Boiani, Arianna; Pizzuti, Antonio; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

conference: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2021 (Roma)

book: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2021 - ()

11573/1568932 - 2021 - Contemporary onset of atypical chronic inflammatory demyelinating polyradiculoneuropathy and type 1 diabetes in an adolescent

Silvestri, F.; Mastrangelo, M.; Costantino, F.; Masini, M.; Tromba, V. - 01f Lettera, Nota

paper: DIABETIC MEDICINE (Blackwell Science Limited:PO Box 88, Oxford OX2 0NE United Kingdom:011 44 1865 776868, 011 44 1865 206038, EMAIL: journals.cs@blacksci.co.uk, INTERNET: http://www.blackwell-science.com, Fax: 011 44 1865 721205) pp. - - issn: 0742-3071 - wos: WOS:000648111400001 (0) - scopus: 2-s2.0-85105138935 (0)

11573/1568923 - 2020 - Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)

Mastrangelo, M; Torres, B; De Vita, G; Goldoni, M; De Giorgi, A; Bernardini, L; Leuzzi, V - 01i Case report

paper: JOURNAL OF PEDIATRIC GENETICS (Ioss Press) pp. - - issn: 2146-4596 - wos: WOS:000561071300002 (0) - scopus: (0)

11573/1475647 - 2020 - Towards an evidence-based treatment of pediatric status epilepticus: still a mountain to climb.

Mastrangelo, Mario - 01f Lettera, Nota

paper: SEIZURE (Elsevier B.V. London: Baillière Tindall, 1992-) pp. - - issn: 1059-1311 - wos: WOS:000601292100021 (0) - scopus: 2-s2.0-85095453107 (0)

11573/1704481 - 2020 - Encefalopatia epilettica correlata al gene KCNQ2: outcome a lungo termine in una paziente con 29 anni di follow-up

Mastrangelo, Mario; Manti, Filippo; Giannini, Maria Teresa; Brinciotti, Mario; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

conference: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2020 (Roma)

book: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2020 - ()

11573/1437079 - 2020 - KCNQ2 encephalopathy manifesting with Rett-like features A follow-up into adulthood

Mastrangelo, Mario; Manti, Filippo; Giannini, Maria Teresa; Guerrini, Renzo; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: NEUROLOGY. GENETICS (Philadelphia, PA : Wolters Kluwer/Lippincott Williams & Wilkins, 2015-) pp. - - issn: 2376-7839 - wos: WOS:000590873700022 (3) - scopus: 2-s2.0-85103246438 (2)

11573/1471035 - 2020 - Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Opladen, T.; Lopez-Laso, E.; Cortes-Saladelafont, E.; Pearson, T. S.; Sivri, H. S.; Yildiz, Y.; Assmann, B.; Kurian, M. A.; Leuzzi, V.; Heales, S.; Pope, S.; Porta, F.; Garcia-Cazorla, A.; Honzik, T.; Pons, R.; Regal, L.; Goez, H.; Artuch, R.; Hoffmann, G. F.; Horvath, G.; Thony, B.; Scholl-Burgi, S.; Burlina, A.; Verbeek, M. M.; Mastrangelo, M.; Friedman, J.; Wassenberg, T.; Jeltsch, K.; Kulhanek, J.; Kuseyri Hubschmann, O. - 01b Commento, Erratum, Replica e simili

paper: ORPHANET JOURNAL OF RARE DISEASES (London : BioMed Central) pp. - - issn: 1750-1172 - wos: WOS:000560827200002 (2) - scopus: 2-s2.0-85089171611 (5)

11573/1471064 - 2020 - Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

paper: ORPHANET JOURNAL OF RARE DISEASES (London : BioMed Central) pp. - - issn: 1750-1172 - wos: WOS:000537854200002 (87) - scopus: 2-s2.0-85085540040 (102)

11573/1396140 - 2020 - AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Pearson, Toni S; Gilbert, Laura; Opladen, Thomas; Garcia-Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K H; Sykut-Cegielska, Jolanta; Pons, Roser; Mercimek-Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A; Steel, Dora; Manti, Filippo; Meeks, Kathleen D; Jeltsch, Kathrin; Flint, Lisa - 01a Articolo in rivista

11573/1359160 - 2019 - Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

Mastrangelo, M.; Alfonsi, C.; Screpanti, I.; Masuelli, L.; Tavazzi, B.; Mei, D.; Giannotti, F.; Guerrini, R.; Leuzzi, V. - 01a Articolo in rivista

paper: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 100502- - issn: 2214-4269 - wos: WOS:000500718300039 (3) - scopus: 2-s2.0-85070904350 (3)

11573/1473886 - 2019 - A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3

Mastrangelo, M.; Mei, D.; Cesario, S.; Fioriello, F.; Bernardini, L.; Brinciotti, M.; Guerrini, R.; Leuzzi, V. - 01f Lettera, Nota

paper: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 1-3 - issn: 1353-8020 - wos: WOS:000503086600001 (2) - scopus: 2-s2.0-85072683392 (3)

11573/1279501 - 2019 - Clinical approach to neurodegenerative disorders in childhood: an updated overview.

Mastrangelo, Mario - 01g Articolo di rassegna (Review)

paper: ACTA NEUROLOGICA BELGICA (Association for the Society of Scientifique Medica Belgique:Weldadigheidsstraat 49, 3000 Leuven Belgium:011 32 16 232000, EMAIL: acta.cardiologica@chello.be, INTERNET: http://www.ulb.ac.be/medecine/loce/amb.htm, Fax: 011 32 16 231800) pp. - - issn: 0300-9009 - wos: WOS:000495395400001 (12) - scopus: 2-s2.0-85066858676 (12)

11573/1475651 - 2019 - Update on the treatment of vitamin B6 dependent epilepsies

Mastrangelo, Mario; Cesario, Serena - 01g Articolo di rassegna (Review)

paper: EXPERT REVIEW OF NEUROTHERAPEUTICS (-London, United Kingdom: Expert Reviews Ltd -London, United Kingdom: Future Drugs Limited) pp. - - issn: 1473-7175 - wos: WOS:000479355400001 (12) - scopus: 2-s2.0-85073182968 (12)

11573/1473964 - 2019 - Early post-cooling brain magnetic resonance for the prediction of neurodevelopmental outcome in newborns with hypoxic-ischemic encephalopathy

Mastrangelo, Mario; Di Marzo, Giulia; Chiarotti, Flavia; Andreoli, Chiara; Colajacomo, Maria Chiara; Ruggieri, Anna; Papoff, Paola - 01a Articolo in rivista

paper: JOURNAL OF PEDIATRIC NEUROSCIENCES (Mumbai: Medknow Publications Pvt. Ltd.) pp. 191-202 - issn: 1817-1745 - wos: WOS:000506388100004 (3) - scopus: 2-s2.0-85076582408 (4)

11573/1273391 - 2019 - Other single-gene disorders

Mastrangelo, Mario; Leuzzi, Vincenzo - 02a Capitolo o Articolo

book: The causes of epilepsy common and uncommon causes in adults and children - ()

11573/1262169 - 2019 - Epilepsy in children with type 1 diabetes mellitus: Pathophysiological basis and clinical hallmarks.

Mastrangelo, Mario; Tromba, Valeria; Silvestri, Francesca; Costantino, Francesco - 01g Articolo di rassegna (Review)

paper: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (-[London] : Elsevier Ltd. -[London] : Saunders, 1997-) pp. 240-247 - issn: 1532-2130 - wos: WOS:000463311100006 (19) - scopus: 2-s2.0-85059151566 (21)

11573/1210813 - 2018 - Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

Cappuccio, Gerarda; Torella Anna, Laura; Mastrangelo, Mario; Carducci, Claudia; Nigro, Vincenzo; Tudp, ; Brunetti-Pierri, Nicola; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: ACTA PAEDIATRICA (Oxford: Wiley-Blackwell Stockholm: Taylor & Francis Oslo: Scandinavian University Press, 1992-) pp. 564-565 - issn: 1651-2227 - wos: WOS:000458391200031 (3) - scopus: 2-s2.0-85057333709 (3)

11573/1089335 - 2018 - Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142]

Di Salvo, Martino L.; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo - 01b Commento, Erratum, Replica e simili

paper: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 359-359 - issn: 1096-7192 - wos: WOS:000453637800007 (2) - scopus: 2-s2.0-85043513164 (2)

11573/1120486 - 2018 - Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Falsaperla, R; Vari, Ms; Toldo, I; Murgia, A; Sartori, S; Vecchi, M; Suppiej, A; Burlina, A; Mastrangelo, M; Leuzzi, V; Marchiani, V; De Liso, P; Capovilla, G; Striano, P; Vitaliti, G; Italian Society Of Pediatric Neurology (Sinp: Società Italiana Di Neurologia, Pediatrica). - 01a Articolo in rivista

paper: METABOLIC BRAIN DISEASE (Plenum Press:Book Customer Service, 233 Spring Street:New York, NY 10013:(212)620-8471, (212)620-8000, EMAIL: info@plenum.com, INTERNET: http://www.plenum.com, Fax: (212)807-1047) pp. 261-269 - issn: 0885-7490 - wos: WOS:000422658000026 (21) - scopus: 2-s2.0-85034837431 (20)

11573/1174125 - 2018 - Photosensitivity as an early marker of epileptic and developmental encephalopathies

Kasteleijn-Nolst Trenité, D; Mastrangelo, M; Spalice, A; Parisi, P. - 01f Lettera, Nota

paper: EPILEPSIA (Hoboken: John Wiley & Sons Oxford: Blackwell Science Inc.) pp. 1086-1087 - issn: 1528-1167 - wos: WOS:000431495200025 (2) - scopus: 2-s2.0-85046338653 (3)

11573/1174137 - 2018 - PRICKLE1-related early onset epileptic encephalopathy

Mastrangelo, M; Tolve, M; Martinelli, M; Di Noia, S; Parrini, E; Leuzzi, V - 01i Case report

paper: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2841-2845 - issn: 1552-4825 - wos: WOS:000454612700043 (11) - scopus: 2-s2.0-85055284320 (11)

11573/1120503 - 2018 - Actual insights into treatable inborn errors of metabolism causing epilepsy

Mastrangelo, Mario - 01g Articolo di rassegna (Review)

paper: JOURNAL OF PEDIATRIC NEUROSCIENCES (Mumbai: Medknow Publications Pvt. Ltd.) pp. 13-23 - issn: 1817-1745 - wos: WOS:000433244300003 (10) - scopus: 2-s2.0-85047253318 (10)

11573/1143252 - 2018 - Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome

Mastrangelo, Mario; Manti, Filippo; Patanè, Luisa; Ferrari, Stefania; Carducci, Carla; Carducci, Claudia; Mangili, Giovanna; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 446-447 - issn: 2330-1619 - wos: WOS:000442220200018 (7) - scopus: 2-s2.0-85051717448 (6)

11573/1205924 - 2018 - Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders

Mastrangelo, Mario; Sartori, Stefano; Simonati, Alessandro; Brinciotti, Mario; Moro, Emilia Francesca; Nosadini, Margherita; Pezzini, Francesco; Doccini, Stefano; Santorelli, Filippo Maria; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. - - issn: 1769-7212 - wos: WOS:000496913300004 (11) - scopus: 2-s2.0-85057387357 (12)

11573/1014987 - 2017 - Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)

paper: DATA IN BRIEF (New York : Elsevier Inc.) pp. 868-875 - issn: 2352-3409 - wos: WOS:000453415100125 (12) - scopus: 2-s2.0-85032823566 (12)

11573/1001903 - 2017 - Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation

Di Salvo, Martino Luigi; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 1-8 - issn: 1096-7192 - wos: WOS:000413134800019 (28) - scopus: 2-s2.0-85030540261 (29)

11573/955669 - 2017 - Lennox-Gastaut Syndrome: A State of the Art Review.

Mastrangelo, Mario - 01g Articolo di rassegna (Review)

paper: NEUROPEDIATRICS (New York ; Stuttgart : Thieme) pp. 143-151 - issn: 1439-1899 - wos: WOS:000402071500003 (41) - scopus: 2-s2.0-85016621646 (51)

11573/955692 - 2017 - Minor head trauma in the pediatric emergency department: decision making nodes

Mastrangelo, Mario; Midulla, Fabio - 01g Articolo di rassegna (Review)

paper: CURRENT PEDIATRIC REVIEWS (Bentham Science Publishers Ltd. P.O. Box 640310 San Francisco, CA 94164-0310 USA Fax: +1 415-775-4503) pp. 92-99 - issn: 1573-3963 - wos: WOS:000441365600002 (6) - scopus: 2-s2.0-85042163210 (7)

11573/980119 - 2017 - Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study

Raucci, Umberto; Parisi, Pasquale; Vanacore, Nicola; La Penna, Francesco; Ferro, Valentina Annarosa; Calistri, Lucia; Bondone, Claudia; Midulla, Fabio; Suppiej, Agnese; Falsaperla, Raffaele; Cordelli, Duccio Maria; Palmieri, Antonella; Verrotti, Alberto; Becciani, Sabrina; Aguzzi, Sonia; Mastrangelo, Mario; Pelizza, Federica; Greco, Filippo; Carbonari, Giulia; Tallone, Ramona; Bottone, Gabriella; Trenta, Italo; Masi, Stefano; Villa, Maria Pia; Reale, Antonino - 01a Articolo in rivista

paper: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (-[London] : Elsevier Ltd. -[London] : Saunders, 1997-) pp. 722-729 - issn: 1532-2130 - wos: WOS:000408784100010 (5) - scopus: 2-s2.0-85020794817 (5)

11573/930502 - 2017 - Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Wassenberg, Tessa; Molero Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg F.; Assmann, Birgit; Blau, Nenad; Garcia Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni S.; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip L.; Lee, Wang Tso; Kurian, Manju A.; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, Michèl; Opladen, Thomas - 01g Articolo di rassegna (Review)

paper: ORPHANET JOURNAL OF RARE DISEASES (London : BioMed Central) pp. 1-21 - issn: 1750-1172 - wos: WOS:000392253400001 (154) - scopus: 2-s2.0-85009814696 (167)

11573/982297 - 2016 - Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia

Celato, A; Mastrangelo, Mario; Burlina, A. P; Polo, G; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Burlina, A. B. - 04c Atto di convegno in rivista

11573/930491 - 2016 - Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type b

Leuzzi, Vincenzo; Mastrangelo, Mario; Giannini, Maria Teresa; Carbonetti, R; Hoffmann, G. F. - 01a Articolo in rivista

paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins) pp. 1-2 - issn: 1526-632X - wos: WOS:000397340800017 (7) - scopus: 2-s2.0-85011263104 (14)

11573/982301 - 2016 - Safety and efficacy of Rotigotine in 7 patients with monoaminergic neurotransmitter deficiency

Mastrangelo, Mario; Giannini, Maria Teresa; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

11573/930476 - 2016 - Epilepsy in kcnh1-related syndromes

Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, L. D. V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: EPILEPTIC DISORDERS (John Libby Eurotext Ltd:127 avenue de la Republique, F 92120 Montrouge France:011 33 1 46730660, EMAIL: marketing@jle.com, INTERNET: http://www.john-libbey-eurotext.fr, Fax: 011 33 1 40840999) pp. 123-136 - issn: 1294-9361 - wos: WOS:000378262900002 (35) - scopus: 2-s2.0-84976417901 (38)

11573/955654 - 2016 - The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Opladen, Thomas; Cortès Saladelafont, Elisenda; Mastrangelo, Mario; Horvath, Gabriella; Pons, Roser; Lopez Laso, Eduardo; Fernández Ramos, Joaquín A.; Honzik, Tomas; Pearson, Toni; Friedman, Jennifer; Scholl Bürgi, Sabine; Wassenberg, Tessa; Jung Klawitter, Sabine; Kuseyri, Oya; Jeltsch, Kathrin; Kurian, Manju A.; Garcia Cazorla, Àngels - 01a Articolo in rivista

paper: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 61-66 - issn: 2214-4269 - wos: WOS:000389860800015 (41) - scopus: 2-s2.0-84991799985 (47)

11573/785402 - 2015 - Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Leuzzi, Vincenzo; Mastrangelo, Mario; Polizzi, Agata; Artiola, Cristiana; Van Kuilenburg, André B. P; Carducci, Carla; Ruggieri, Martino; Barone, Rita; Tavazzi, Barbara; Abeling, Nico G. G. M; Zoetekouw, Lida; Sofia, Vito; Zappia, Mario; Carducci, Claudia - 01i Case report

paper: JIMD REPORTS (London ; Heidelberg ; Dordrecht ; New York : Springer) pp. 39-45 - issn: 2192-8304 - wos: (0) - scopus: 2-s2.0-85009753904 (51)

11573/1654009 - 2015 - The Spectrum of Early Movement Disorders in Congenital Defects of Biogenic Amine Metabolism

Mastrangelo, M.; Carducci, C.; Carducci, C.; Leuzzi, V. - 01g Articolo di rassegna (Review)

paper: JOURNAL OF PEDIATRIC NEUROLOGY (-Van : Society of Pediatric Science -Amsterdam ; Washington, DC ; Tokyo : IOS Press) pp. 213-224 - issn: 1304-2580 - wos: WOS:000216262900010 (2) - scopus: 2-s2.0-84973522053 (2)

11573/870821 - 2015 - Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Mastrangelo, Mario - 01g Articolo di rassegna (Review)

paper: PEDIATRIC NEUROLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 119-129 - issn: 0887-8994 - wos: WOS:000359329700003 (27) - scopus: 2-s2.0-84938285841 (30)

11573/812565 - 2015 - White matter abnormalities in early treated phenylketonuria: a retrospective longitudinal long term study

Mastrangelo, Mario; Berillo, Luana; Caputi, C; Di Biasi, C; Carducci, Claudia; Chiarotti, F. - 04c Atto di convegno in rivista

11573/790011 - 2015 - The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study

Mastrangelo, Mario; Chiarotti, Flavia; Berillo, Luana; Caputi, Caterina; Carducci, Claudia; Di Biasi, Claudio; Manti, Filippo; Nardecchia, Francesca; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: MOLECULAR GENETICS AND METABOLISM (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 171-177 - issn: 1096-7192 - wos: WOS:000364984200011 (25) - scopus: 2-s2.0-84948714771 (27)

11573/812381 - 2014 - The spectrum of movement disorders under 3 years of agein inherited disorders of monoamine metabolism

Mastrangelo, Mario; Giorgini, M; Carducci, Claudia; Carducci, Carla; Gianninim, T; Mitola, C; Berillo, Luana; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

11573/559024 - 2014 - Actual insights into the clinical management of febrile seizures

Mastrangelo, Mario; Midulla, Fabio; Moretti, Corrado - 01g Articolo di rassegna (Review)

paper: EUROPEAN JOURNAL OF PEDIATRICS (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 977-982 - issn: 0340-6199 - wos: WOS:000339806900001 (19) - scopus: 2-s2.0-84904410631 (23)

11573/557020 - 2014 - Teaching Video NeuroImages: Clinical course of infantile ascending hereditary spastic paralysis

Mastrangelo, Mario; P., Bernasconi; De Liso, Paola; Caputi, Caterina; S., Bertino; Leuzzi, Vincenzo - 01b Commento, Erratum, Replica e simili

paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. E61-E61 - issn: 0028-3878 - wos: WOS:000336498300002 (0) - scopus: 2-s2.0-84895755026 (0)

11573/930507 - 2014 - Genetic background of febrile seizures

Saghazadeh, Amene; Mastrangelo, Mario; Rezaei, Nima - 01a Articolo in rivista

paper: REVIEWS IN THE NEUROSCIENCES (Berlin; Boston: de Gruyter Freund Publishing House Limited) pp. 129-161 - issn: 0334-1763 - wos: WOS:000330849800005 (37) - scopus: 2-s2.0-84896760665 (45)

11573/488771 - 2013 - Inborn errors of creatine metabolism and epilepsy

Leuzzi, Vincenzo; Mastrangelo, Mario; Roberta, Battini; Giovanni, Cioni - 01a Articolo in rivista

paper: EPILEPSIA (Hoboken: John Wiley & Sons Copenhagen: E. Munksgaard) pp. 217-227 - issn: 0013-9580 - wos: WOS:000314750200004 (45) - scopus: 2-s2.0-84873411672 (47)

11573/812754 - 2013 - White matter involvement and neurocognitive outcome in phenylketonuric (PKU) patients with and without BH4/sapropterin dihydrochloride supplementation

Mastrangelo, Mario; Caputi, C; Berillo, Luana; Manti, Filippo; Caforio, C; Bertino, S; Carducci, Claudia; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

11573/493782 - 2013 - Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency

Mastrangelo, Mario; Caputi, Caterina; Galosi, Serena; Giannini, Maria Teresa; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 556-557 - issn: 0885-3185 - wos: WOS:000317366100033 (13) - scopus: 2-s2.0-84876150648 (20)

11573/812705 - 2013 - The natural history of l-aminoacid decarboxylase (AADC) deficiency: report of two never treated adult patients.

Mastrangelo, Mario; Carducci, Claudia; Polizzi, A; Artiola, Cristiana; Sofia, V; Barone, R; Carducci, Carla; Zappia, Giovanni; Ruggieri, M; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

11573/481880 - 2012 - EARLY ONSET PARKINSONISM: A NEW CLINICAL AND BIOCHEMICAL PHENOTYPE

Galosi, Serena; Celato, Andrea; Mastrangelo, Mario; Carducci, Claudia; Carducci, Carla; Enrico, Bertini; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

paper: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. S140-S140 - issn: 0141-8955 - wos: WOS:000307513100488 (0) - scopus: (0)

11573/481877 - 2012 - SEVERE SELF-INJURIOUS BEHAVIORS AS MAIN CLINICAL MANIFESTATION OF A NEW FORM OF CEREBRAL FOLATE DEFICIENCY

Leuzzi, Vincenzo; Mastrangelo, Mario; Celato, Andrea; Carducci, Carla; Carducci, Claudia - 04d Abstract in atti di convegno

paper: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. S135-S135 - issn: 0141-8955 - wos: WOS:000307513100469 (0) - scopus: (0)

11573/480500 - 2012 - A new form of cerebral folate deficiency with severe self-injurious behaviour

Leuzzi, Vincenzo; Mastrangelo, Mario; Celato, Andrea; Carducci, Claudia; Carducci, Carla - 01b Commento, Erratum, Replica e simili

paper: ACTA PAEDIATRICA (Oxford: Wiley-Blackwell Stockholm: Taylor & Francis Oslo: Scandinavian University Press, 1992-) pp. E482-E483 - issn: 0803-5253 - wos: WOS:000309408200001 (4) - scopus: 2-s2.0-84867097976 (6)

11573/448207 - 2012 - Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers

Libernini, Laura; Lupis, Chiara; Mastrangelo, Mario; Rosalba, Carrozzo; Filippo, Santorelli; Inghilleri, Maurizio; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: NEUROPEDIATRICS (Hippokrates Verlag GmbH:Postfach 300504, D-70445 Stuttgart Germany:011 49 711 89310, Fax: 011 49 711 8931706) pp. 201-208 - issn: 0174-304X - wos: WOS:000308062500006 (10) - scopus: 2-s2.0-84865249301 (11)

11573/402261 - 2012 - A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies

Mastrangelo, Mario; Andrea, Celato; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 179-191 - issn: 1090-3798 - wos: WOS:000301216700012 (26) - scopus: 2-s2.0-84857363534 (28)

11573/980120 - 2012 - Diagnostic work-up and therapeutic options in management of pediatric status epilepticus

Mastrangelo, Mario; Celato, Andrea - 01a Articolo in rivista

paper: WORLD JOURNAL OF PEDIATRICS (Press Hangzhou China) pp. 109-115 - issn: 1708-8569 - wos: WOS:000303964400002 (14) - scopus: 2-s2.0-84866256885 (15)

11573/481882 - 2012 - GLUT1 DEFICIENCY: A MILD PHENOTYPE IN A 4 YEARS OLD FEMALE WITH EARLY ONSET ABSENCES AND ATAXIA

Mastrangelo, Mario; Celato, Andrea; Galosi, Serena; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

paper: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. S169-S169 - issn: 0141-8955 - wos: WOS:000307513100594 (0) - scopus: (0)

11573/481881 - 2012 - TRANSDERMAL ROTIGOTINE AS A COMEDICATION IN THE TREATMENT OF CONGENITAL DISORDERS OF BIOGENIC AMINE

Mastrangelo, Mario; Galosi, Serena; Celato, Andrea; D'agnano, Daniela; Giannini, Maria Teresa; S., Bertino; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

paper: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. S140-S140 - issn: 0141-8955 - wos: WOS:000307513100491 (0) - scopus: (0)

11573/443456 - 2012 - Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

Mastrangelo, Mario; Leuzzi, Vincenzo - 01a Articolo in rivista

paper: PEDIATRIC NEUROLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 24-31 - issn: 0887-8994 - wos: WOS:000299065000003 (93) - scopus: 2-s2.0-84555202524 (99)

11573/411538 - 2011 - LONG TERM OUTCOME IN TYROSINE HYDROXYLASE DEFICIENCY- TYPE B: A FIFTEEN YEARS FOLLOW UP IN A MALE PATIENT

Mastrangelo, Mario; Celato, A; Guerriero, F; Galosi, S; Libernini, L; Carducci, Claudia; Carducci, Carla; Giannini, Mt; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

paper: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. S130- - issn: 0141-8955 - wos: WOS:000309837800190 (0) - scopus: (0)

conference: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (GINEVRA)

11573/542303 - 2011 - Neurocardiogenic syncope and epilepsy in pediatric age: The diagnostic value of electroencephalogram-electrocardiogram holter

Mastrangelo, Mario; Mariani, Rosanna; Ursitti, Fabiana; Papetti, Laura; Iannetti, Paola - 01a Articolo in rivista

paper: PEDIATRIC EMERGENCY CARE (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 36-39 - issn: 0749-5161 - wos: WOS:000285916000011 (2) - scopus: 2-s2.0-78751509271 (3)

11573/337331 - 2011 - NEUROCARDIOGENIC SYNCOPE AND EPILEPSY IN PEDIATRIC AGE: THE DIAGNOSTIC VALUE OF EEG-ECG HOLTER

Mastrangelo, Mario; Rosanna, Mariani; Fabiana, Ursitti; Papetti, Laura; Paola, Iannetti - 01a Articolo in rivista

11573/542299 - 2011 - Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola - 01a Articolo in rivista

paper: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 582-585 - issn: 1552-4825 - wos: WOS:000288033300020 (17) - scopus: 2-s2.0-79951968333 (20)

11573/330362 - 2010 - Single nucleotide polymorphisms (SNPs) of metabotropic glutamate receptor type 3 gene (GRM3) in children with absence epilepsy: a pathogenic link?

Mastrangelo, Mario; Mariani, R; Papetti, L; Santolini, I; Ursitti, F; Gradini, Roberto; Nicoletti, Ferdinando; Iannetti, P. - 04a Atto di comunicazione a congresso

book: Congress of International Pediatrics Association - ()

11573/340518 - 2010 - Eponym: Rasmussen syndrome

Mastrangelo, Mario; Mariani, Rosanna; Menichella, Alessandra - 01a Articolo in rivista

paper: EUROPEAN JOURNAL OF PEDIATRICS (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 919-924 - issn: 0340-6199 - wos: WOS:000279080800002 (12) - scopus: 2-s2.0-77954426201 (17)

11573/1098910 - 2010 - New trends in neuronal migration disorders

Verrotti, Alberto; Spalice, Alberto; Ursitti, Fabiana; Papetti, Laura; Mariani, Rosanna; Castronovo, Antonella; Mastrangelo, Mario; Iannetti, Paola - 01a Articolo in rivista

paper: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 1-12 - issn: 1090-3798 - wos: WOS:000273943400001 (53) - scopus: 2-s2.0-71649105423 (65)

11573/367509 - 2009 - RUOLO DELLA DTI NELLA DEFINIZIONE DELLE PATOLOGIE EPILETTICHE

Laura, Papetti; Francesco, Nicita; Fabiana, Ursitti; Mastrangelo, Mario; Sollaku, Saadi; Spalice, Alberto; Paola, Iannetti - 04a Atto di comunicazione a congresso

book: Atti del XXXV Congresso della Società Italiana di Neurologia Pediatrica Sessione Aggiornamenti- pag. - L’Aquila 29-31 Ottobre 2009; - ()

11573/542309 - 2009 - Stupor and fast activity on electroencephalography in a child treated with valproate.

Mastrangelo, Mario; Mariani, Rosanna; Spalice, Alberto; Rocchi, V; Iannetti, Paola - 01a Articolo in rivista

11573/1210810 - 2009 - Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (nf1) and bilateral (opercular and paracentral) polymicrogyria

Mastrangelo, Mario; Mariani, Rosanna; Spalice, Alberto; Ruggieri, Martino; Iannetti, Paola - 01i Case report

paper: ACTA PAEDIATRICA (Oxford: Wiley-Blackwell Stockholm: Taylor & Francis Oslo: Scandinavian University Press, 1992-) pp. 760-762 - issn: 1651-2227 - wos: WOS:000263965400035 (7) - scopus: 2-s2.0-61849109970 (8)

11573/333075 - 2009 - POLIMORFISMI DI SINGOLI NUCLEOTIDI (SNPS) DEL GENE CODIFICANTE PER IL RECETTORE METABOTROPO PER IL GLUTAMMATO DI TIPO 3 (GRM3) IN BAMBINI CON ASSENZE: UN POSSIBILE LINK PATOGENETICO?

Mastrangelo, Mario; Papetti, Laura; Rosanna, Mariani; Ines, Santolini; Fabiana, Ursitti; Gradini, Roberto; Nicoletti, Ferdinando; Paola, Iannetti - 04a Atto di comunicazione a congresso

book: Atti del 65° Congresso della Società Italiana di Pediatria - ()

11573/333078 - 2009 - NEUROFIBROMA SPINALE IN UNA BAMBINA DI 11 ANNI CON ATTEGGIAMENTO SCOLIOTICO

Mastrangelo, Mario; Rosanna, Mariani; Loretta, Mellino; Enrico, Properzi; Patrizia, Deufemia; Mario, Roggini; Paola, Iannetti - 04a Atto di comunicazione a congresso

book: Atti del XXXV Congresso della Società Italiana di Neurologia PediatricaSessione Poster- pag. - L’Aquila 29-31 Ottobre 2009 - ()

11573/340548 - 2009 - STUPOR AND FAST ACTIVITY ON ELECTROENCEPHALOGRAPHY IN A CHILD TREATED WITH VALPROATE

Mastrangelo, Mario; Rosanna, Mariani; Spalice, Alberto; Valerio, Rocchi; Paola, Iannetti - 01a Articolo in rivista

paper: PEDIATRIC NEUROLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 53-56 - issn: 0887-8994 - wos: WOS:000267196300012 (1) - scopus: 2-s2.0-66349129077 (1)

11573/53796 - 2009 - I NUMEROSI VOLTI DELLA PHACE: PRESNTAZIONE DI UN CASO CLINICO

Papetti, L; Ursitti, F; Nicita, F; Mariani, R; Properzi, Enrico; Mastrangelo, M; Castronovo, A; Pizzardi, G; Mitola, C; Iannetti, P. - 04a Atto di comunicazione a congresso

conference: 34° CONGRESSO NAZIONALE SINP (NAPOLI)

book: 34° CONGRESSO NAZIONALE SINP - ()

11573/332194 - 2009 - POSSIBLE ASSOCIATIONS OF POLYMORPHISMS IN THE METABOTROPIC GLUTAMATE RECEPTOR TYPE 3 GENE (GRM3) WITH ABSENCE EPILEPSY

Papetti, Laura; Ines, Santolini; Giorgia, Pizzardi; Mastrangelo, Mario; Gradini, Roberto; Nicoletti, Ferdinando; Paola, Iannetti - 04b Atto di convegno in volume

conference: 38th Annual Meeting of the Child-Neurology-Society (Louisville; United States)

book: XXXVIII Child Neurology Society Annual Meeting - ()

11573/329670 - 2009 - TRATTAMENTO CON INFUSIONE CONTINUA DI ALFA INTERFERON PER VIA INTRATECALE TRAMITE POMPA D’ INFUSIONE LOMBARE NELLA PANENCEFALITE SUBACUTA SCLEROSANTE: PRESENTAZIONE DI UN CASO CLINICO

Rosanna, Mariani; Mastrangelo, Mario; Alessandra, Menichella; Properzi, Enrico; Spalice, Alberto; Paola, Iannetti - 04a Atto di comunicazione a congresso

book: Atti del XXXV Congresso della Società Italiana di Neurologia PediatricaSessione Casi Clinici- pag. - L’Aquila 29-31 Ottobre 2009; - ()

11573/361234 - 2008 - SINCOPI IN ETA’ PEDIATRICA: LA NOSTRA ESPERIENZA CLINICA

Mastrangelo, Mario; Alberto, Spalice; Fabiana, Ursitti; Papetti, Laura; Giorgia, Pizzardi; Francesco, Nicita; Rosanna, Mariani; Antonella, Castronovo; Iannetti, P. - 04a Atto di comunicazione a congresso

book: XXXIV Congresso della Società Italiana di Neurologia Pediatrica - ()

11573/333267 - 2008 - LA SINDROME DI OHTAHARA: NUOVE ACQUISIZIONI EZIOPATOGENETICHE

Mastrangelo, Mario; Alberto, Spalice; Martino, Ruggieri; Parisi, Pasquale; Francesco, Nicita; Papetti, L. A. U. R. A.; Fabiana, Ursitti; Giorgia, Pizzardi; Paola, Iannetti - 04a Atto di comunicazione a congresso

book: XXXIV Congresso della Società Italiana di Neurologia Pediatrica - ()

11573/337336 - 2008 - POLYMICROGYRIA ASSOCIATED WITH NEUROFIBROMATOSIS TYPE 1

Spalice, A. L. B. E. R. T. O.; Rosanna, Mariani; Mastrangelo, Mario; Claudio Di, Biasi; Chiara, Colaiacono; Francesca Del, Balzo; Gianfranco, Gualdi; Paola, Iannetti - 01a Articolo in rivista

paper: PEDIATRIC RADIOLOGY (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. - - issn: 0301-0449 - wos: (0) - scopus: (0)

11573/333077 - 2008 - POLYMICROGYRIA AND EPILEPSY IN A CHILD WITH NEUROFIBROMATOSIS TYPE 1

Spalice, Alberto; Mastrangelo, Mario; Claudio Di Biasi, ; Rosanna, Mariani; Chiara, Colajacono; Francesca Del Balzo, ; Papetti, Laura; Giorgia, Pizzardi; Gianfranco, Gualdi; Paola, Iannetti - 04a Atto di comunicazione a congresso

book: Atti del IX Congresso della Societa’ Italiana di Neuroradiologia Pediatrica - ()

11573/329672 - 2008 - PANENCEFALITE SUBACUTA SCLEROSANTE: UN CASO PEDIATRICO

Spalice, Alberto; Rosanna, Mariani; Claudio Di Biasi, ; Papetti, Laura; Giorgia, Pizzardi; Francesca Del Balzo, ; Mastrangelo, Mario; Fabiana, Ursitti; Gianfranco, Gualdi; Paola, Iannetti - 04a Atto di comunicazione a congresso

book: Atti del IX Congresso delle Societa’ Italiana di Neuroradiologia Pediatrica- Catania 12-14 Giugno 2008; - ()

11573/366321 - 2007 - Early-onset hereditary neuropathy with liability to pressure palsy

Antonini, Giovanni; Anna, Luchetti; Mastrangelo, Mario; G. L., Ciambra; S. A., Di Netta; Federica, Taioli; G. M., Fabrizi; Iannetti, Paola - 01a Articolo in rivista

paper: NEUROPEDIATRICS (Hippokrates Verlag GmbH:Postfach 300504, D-70445 Stuttgart Germany:011 49 711 89310, Fax: 011 49 711 8931706) pp. 50-54 - issn: 0174-304X - wos: WOS:000247999000013 (12) - scopus: 2-s2.0-34547797458 (9)

11573/444450 - 2007 - Treatment of children with pleura effusion

Graziano, F; Tromba, Valeria; Moretti, Corrado; Lo Russo, L; Berardi, R; Korn, David; De Angelis, Daniela; Brenna, S; Trapasso, E; Mastrangelo, Mario; Midulla, Fabio - 04c Atto di convegno in rivista

paper: EUROPEAN RESPIRATORY JOURNAL (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 243s-243s - issn: 0903-1936 - wos: (0) - scopus: (0)

conference: XVII Annual Congress of European Respiratory Society (Stoccolma)

11573/337338 - 2007 - I DISTURBI DELLA DEAMBULAZIONE

Paola, Iannetti; Mastrangelo, Mario; Giovanni Luca Ciambra, ; Serena, Mingione; Loretta, Mellino; Properzi, Enrico - 01a Articolo in rivista

paper: RIVISTA ITALIANA DI EMERGENZA-URGENZA PEDIATRICA (Firenze, SEE Editrice) pp. 25-30 - issn: - wos: (0) - scopus: (0)

11573/333072 - 2006 - TUMURI NEUROEPITELIALI DISEMBRIOBLASTICI (DNET) IN ETA’ PEDIATRICA

Francesca De Luca, ; Spalice, Alberto; Mastrangelo, Mario; Sara Di Netta, ; Giovanni Luca Ciambra, ; Martino, Ruggieri; Paolo, Balestri; Salvatore, Grosso; Paola, Iannetti - 04a Atto di comunicazione a congresso