ALAGIA, MARIANNA
ALAGIA, MARIANNA
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder
2019 Cappuccio, G.; Attanasio, S.; Alagia, Marianna; Mutarelli, M.; Borzone, Roberta; Karali, M.; Genesio, R.; Mormile, A.; Nitsch, L.; Imperati, F.; Esposito, A.; Banfi, S.; Del Giudice, E.; Brunetti-Pierri, N.
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder
2020 Alagia, Marianna; Cappuccio, Gerarda; Torella, Annalaura; D'Amico, Alessandra; Mazio, Federica; Romano, Alfonso; Fecarotta, Simona; Casari, Giorgio; Nigro, Vincenzo; Brunetti-Pierri, Nicola
Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367)
2020 Cappuccio, G.; Pinelli, M.; Torella, A.; Alagia, M.; Auricchio, Renata.; Staiano, A.; Nigro, V.; BRUNETTI PIERRI, Nicola
Expansion of the phenotype of lateral meningocele syndrome
2020 Cappuccio, Gerarda; Apuzzo, Diletta; Alagia, Marianna; Torella, Annalaura; Pinelli, Michele; Franco, Brunella; Corrado, Bruno; Del Giudice, Ennio; D'Amico, Alessandra; Nigro, Vincenzo; Brunetti-Pierri, Nicola
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene
2021 Alagia, M.; Bernardo, P.; Genesio, R.; Gennaro, E.; Brunetti-Pierri, N.; Coppola, A.; Zara, F.; Striano, P.; Striano, S.; Terrone, G.
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy
2023 Alagia, Marianna; Fecarotta, Simona; Romano, Alfonso; Parrini, Elena; Auricchio, Gianfranca; Giuseppina Miano, Maria; Terrone, Gaetano
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy
2023 Barretta, Ferdinando; Uomo, Fabiana; Fecarotta, Simona; Albano, Lucia; Crisci, Daniela; Verde, Alessandra; Fisco, Maria Grazia; Gallo, Giovanna; Dottore Stagna, Daniela; Pricolo, Maria Rosaria; Alagia, Marianna; Terrone, Gaetano; Rossi, Alessandro; Parenti, Giancarlo; Ruoppolo, Margherita; Mazzaccara, Cristina; Frisso, Giulia
Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1
2024 Fecarotta, Simona; D’Amico, Alessandra; Di Gennaro, Simona; Alagia, Marianna; Rossi, Alessandro; Zuppaldi, Claudia; Parenti, Giancarlo; Terrone, Gaetano
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder | 1.1 Articolo in rivista | 2019 | Cappuccio, G.; Attanasio, S.; Alagia, Marianna; Mutarelli, M.; Borzone, Roberta; Karali, M.; Genesio, R.; Mormile, A.; Nitsch, L.; Imperati, F.; Esposito, A.; Banfi, S.; Del Giudice, E.; Brunetti-Pierri, N. | |
| Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder | 1.1 Articolo in rivista | 2020 | Alagia, Marianna; Cappuccio, Gerarda; Torella, Annalaura; D'Amico, Alessandra; Mazio, Federica; Romano, Alfonso; Fecarotta, Simona; Casari, Giorgio; Nigro, Vincenzo; Brunetti-Pierri, Nicola | |
| Corrigendum to: Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation (American Journal of Medical Genetics Part A, (2017), 173, 10, (2743-2746), 10.1002/ajmg.a.38367) | 1.7 Commento, erratum, replica e simili | 2020 | Cappuccio, G.; Pinelli, M.; Torella, A.; Alagia, M.; Auricchio, Renata.; Staiano, A.; Nigro, V.; BRUNETTI PIERRI, Nicola | |
| Expansion of the phenotype of lateral meningocele syndrome | 1.1 Articolo in rivista | 2020 | Cappuccio, Gerarda; Apuzzo, Diletta; Alagia, Marianna; Torella, Annalaura; Pinelli, Michele; Franco, Brunella; Corrado, Bruno; Del Giudice, Ennio; D'Amico, Alessandra; Nigro, Vincenzo; Brunetti-Pierri, Nicola | |
| Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene | 1.1 Articolo in rivista | 2021 | Alagia, M.; Bernardo, P.; Genesio, R.; Gennaro, E.; Brunetti-Pierri, N.; Coppola, A.; Zara, F.; Striano, P.; Striano, S.; Terrone, G. | |
| A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy | 1.1 Articolo in rivista | 2023 | Alagia, Marianna; Fecarotta, Simona; Romano, Alfonso; Parrini, Elena; Auricchio, Gianfranca; Giuseppina Miano, Maria; Terrone, Gaetano | |
| Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy | 1.1 Articolo in rivista | 2023 | Barretta, Ferdinando; Uomo, Fabiana; Fecarotta, Simona; Albano, Lucia; Crisci, Daniela; Verde, Alessandra; Fisco, Maria Grazia; Gallo, Giovanna; Dottore Stagna, Daniela; Pricolo, Maria Rosaria; Alagia, Marianna; Terrone, Gaetano; Rossi, Alessandro; Parenti, Giancarlo; Ruoppolo, Margherita; Mazzaccara, Cristina; Frisso, Giulia | |
| Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1 | 1.1 Articolo in rivista | 2024 | Fecarotta, Simona; D’Amico, Alessandra; Di Gennaro, Simona; Alagia, Marianna; Rossi, Alessandro; Zuppaldi, Claudia; Parenti, Giancarlo; Terrone, Gaetano |