MASTRANGELO, Mario
MASTRANGELO, Mario
DIPARTIMENTO MATERNO INFANTILE E SCIENZE UROLOGICHE
A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies
2012 Mastrangelo, Mario; Andrea, Celato; Leuzzi, Vincenzo
A new form of cerebral folate deficiency with severe self-injurious behaviour
2012 Leuzzi, Vincenzo; Mastrangelo, Mario; Celato, Andrea; Carducci, Claudia; Carducci, Carla
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3
2019 Mastrangelo, M.; Mei, D.; Cesario, S.; Fioriello, F.; Bernardini, L.; Brinciotti, M.; Guerrini, R.; Leuzzi, V.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
2020 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
Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia
2016 Celato, A; Mastrangelo, Mario; Burlina, A. P; Polo, G; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Burlina, A. B.
Actual insights into the clinical management of febrile seizures
2014 Mastrangelo, Mario; Midulla, Fabio; Moretti, Corrado
Actual insights into treatable inborn errors of metabolism causing epilepsy
2018 Mastrangelo, Mario
Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study
2017 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
Acute ischemic stroke in childhood: a comprehensive review
2021 Mastrangelo, M.; Giordo, L.; Ricciardi, G.; De Michele, M.; Toni, D.; Leuzzi, V.
ADEM E SCLEROSI MULTIPLA: QUALI SONO I CONFINI?”
2005 Alberto, Spalice; Mastrangelo, Mario; SARA DI, Netta; Giovanni, Luca; Ciambra, ; Paolo, Balestri; Paola, Iannetti
ANIDROSI E IPERTERMIA IN BAMBINO IN TRATTAMENTO CON TOPIRAMATO
2004 SARA DI NETTA, ; Ciambra, GIOVANNI L. U. C. A.; Mastrangelo, Mario; VALENTINA LO FARO, ; Properzi, Enrico; Paola, Iannetti
Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency
2018 Cappuccio, Gerarda; Torella Anna, Laura; Mastrangelo, Mario; Carducci, Claudia; Nigro, Vincenzo; Tudp, ; Brunetti-Pierri, Nicola; Leuzzi, Vincenzo
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry
2021 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
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
2022 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
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1
2011 Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola
Bilateral perysilvian polymicrogyria in Chiari I malformation
2006 Spalice, Alberto; Parisi, Pasquale; Mastrangelo, Mario; F., DE LUCA; A., Verrotti; Iannetti, Paola
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)
2017 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
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis
2019 Mastrangelo, M.; Alfonsi, C.; Screpanti, I.; Masuelli, L.; Tavazzi, B.; Mei, D.; Giannotti, F.; Guerrini, R.; Leuzzi, V.
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants
2023 Cursio, Ida; Siliquini, Sabrina; Carducci, Claudia; Bisello, Giovanni; Mastrangelo, Mario; Leuzzi, Vincenzo; Bertoldi, Mariarita; Marini, Carla
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy
2024 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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies | 2012 | Mastrangelo, Mario; Andrea, Celato; Leuzzi, Vincenzo | |
| A new form of cerebral folate deficiency with severe self-injurious behaviour | 2012 | Leuzzi, Vincenzo; Mastrangelo, Mario; Celato, Andrea; Carducci, Claudia; Carducci, Carla | |
| A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3 | 2019 | Mastrangelo, M.; Mei, D.; Cesario, S.; Fioriello, F.; Bernardini, L.; Brinciotti, M.; Guerrini, R.; Leuzzi, V. | |
| AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients | 2020 | 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 | |
| Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia | 2016 | Celato, A; Mastrangelo, Mario; Burlina, A. P; Polo, G; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Burlina, A. B. | |
| Actual insights into the clinical management of febrile seizures | 2014 | Mastrangelo, Mario; Midulla, Fabio; Moretti, Corrado | |
| Actual insights into treatable inborn errors of metabolism causing epilepsy | 2018 | Mastrangelo, Mario | |
| Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study | 2017 | 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 | |
| Acute ischemic stroke in childhood: a comprehensive review | 2021 | Mastrangelo, M.; Giordo, L.; Ricciardi, G.; De Michele, M.; Toni, D.; Leuzzi, V. | |
| ADEM E SCLEROSI MULTIPLA: QUALI SONO I CONFINI?” | 2005 | Alberto, Spalice; Mastrangelo, Mario; SARA DI, Netta; Giovanni, Luca; Ciambra, ; Paolo, Balestri; Paola, Iannetti | |
| ANIDROSI E IPERTERMIA IN BAMBINO IN TRATTAMENTO CON TOPIRAMATO | 2004 | SARA DI NETTA, ; Ciambra, GIOVANNI L. U. C. A.; Mastrangelo, Mario; VALENTINA LO FARO, ; Properzi, Enrico; Paola, Iannetti | |
| Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency | 2018 | Cappuccio, Gerarda; Torella Anna, Laura; Mastrangelo, Mario; Carducci, Claudia; Nigro, Vincenzo; Tudp, ; Brunetti-Pierri, Nicola; Leuzzi, Vincenzo | |
| Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry | 2021 | 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 | |
| Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome | 2022 | 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 | |
| Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 | 2011 | Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola | |
| Bilateral perysilvian polymicrogyria in Chiari I malformation | 2006 | Spalice, Alberto; Parisi, Pasquale; Mastrangelo, Mario; F., DE LUCA; A., Verrotti; Iannetti, Paola | |
| Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) | 2017 | 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 | |
| Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis | 2019 | Mastrangelo, M.; Alfonsi, C.; Screpanti, I.; Masuelli, L.; Tavazzi, B.; Mei, D.; Giannotti, F.; Guerrini, R.; Leuzzi, V. | |
| Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants | 2023 | Cursio, Ida; Siliquini, Sabrina; Carducci, Claudia; Bisello, Giovanni; Mastrangelo, Mario; Leuzzi, Vincenzo; Bertoldi, Mariarita; Marini, Carla | |
| CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy | 2024 | 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 |