MUGLIA, MARIA
MUGLIA, MARIA
Istituto per la Ricerca e l'Innovazione Biomedica -IRIB
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease
2021 A Cerantonio; S De Benedittis; PL Lanza; M Muglia; F Cavalcanti; P Spadafora; N Romeo; O Gallo; G Di Palma; R Mazzei; A Qualtieri; L Citrigno;
A 71-nucleotide Deletion in the Periaxin Gene in an Italian Patient With Late-Onset Slowly Progressive Demyelinating CMT
2020 Citrigno, Luigi; Zoccolella, Stefano; Lastella, Patrizia; Laura Simone, Isabella; Muglia, Maria
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives
2020 Citrigno, Luigi; Muglia, Maria; Qualtieri, Antonio; Spadafora, Patrizia; Cavalcanti, Francesca; Pioggia, Giovanni; Cerasa, Antonio
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
2019 Sprovieri, Teresa; Ungaro, Carmine; Sivo, Serena; Quintiliani, Michela; Contaldo, Laria; Veredice, Chiara; Citrigno, Luigi; Muglia, Maria; Cavalcanti, Francesca; Cavallaro, Sebastiano; Maria Mercuri, Eugenio; Battaglia, Domenica
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach
2019 Citrigno, L; LA COGNATA, Valentina; Spadafora, P; Qualtieri, A; Romeo, N; De Benedittis, S; Cerantonio, A; Muglia, M; Bellofatto, M; Criscuolo, C; De Rosa, A; De Michele, G; Cavalcanti, F
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease
2019 A Cerantonio; S De Benedittis; PL Lanza; M Muglia; F Cavalcanti; P Spadafora; N Romeo; O Gallo; G Di Palma; R Mazzei; A Qualtieri; L Citrigno;
Rare variants detected by Next Generation Sequencing in two siblings affected by late onset Parkinson's disease
2019 Francesca Cavalcanti; Valentina La Cognata; Patrizia Spadafora; Annamaria Cerantonio; Antonio Qualtieri; Selene De Benedittis; Nelide Romeo; Maria Muglia; Marta Bellofatto; Chiara Criscuolo; Anna De Rosa; Giuseppe De Michele; Luigi Citrigno
Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies
2019 Citrigno, L; Cerantonio, Am; DE BENEDITTIS, Selene; DI PALMA, Gemma; Patitucci, A; Cavalcanti, F; Muglia, M
ALS and CHARGE syndrome: a clinical and genetic study
2018 Ungaro, Carmine; Citrigno, Luigi; Trojsi, Francesca; Sprovieri, Teresa; Gentile, Giulia; Muglia, Maria; Monsurro Maria, Rosaria; Tedeschi, Gioacchino; Cavallaro, Sebastiano; Conforti, FRANCESCA LUISA
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy
2018 Sprovieri, T; Ungaro, C; Battaglia, D; Sivo, S; Musto, E; Quintiliani, M; Contaldo, I; Citrigno, L; Muglia, M; Cavalcanti, F
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.
2018 Citrigno L ; Magariello A ; Pugliese P ; Di Palma G ; Conforti FL ; Petrone A ; Muglia M
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders
2018 La Cognata, Valentina; Morello, Giovanna; Gentile, Giulia; Cavalcanti, Francesca; Cittadella, Rita; Conforti, Francesca Luisa; De Marco, Elvira Valeria; Magariello, Angela; Muglia, Maria; Patitucci, Alessandra; Spadafora, Patrizia; D'Agata, Velia; Ruggieri, Martino; Cavallaro, Sebastiano
Targeted NGS-panel can improve the simultaneous identification of CNVs and SNVs in Mendelian diseases
2018 Citrigno, L; Magariello, A; Praticò, A; Ruggieri, M; Muglia, M
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas
2017 Caltabiano, R; Magro, G; Polizzi, A; Pratico, Ad; Ortensi, A; D'Orazi, V; Panunzi, A; Milone, P; Maiolino, L; Nicita, F; Capone, Gl; Sestini, R; Paganini, I; Muglia, M; Cavallaro, S; Lanzafame, S; Papi, L; Ruggieri, M
CHARGE syndrome and ALS: a clinical and genetic study of a family from Southern Italy.
2017 Ungaro, C; Citrigno, L; Gentile, G; Patitucci, A; Magariello, A; Muglia, M; Cavallaro, S; Trojsi, F; Conforti, F L
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments
2017 Magariello A.; Russo C.; Citrigno L.; Zuchner S.; Patitucci A.; Mazzei R.; Conforti F.L.; Ferlazzo E.; Aguglia U.; Muglia M
RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING.
2017 Citrigno L.; Gentile G. ; Praticò A. ; Conforti FL. ; Magariello A. ; Patitucci A. ; Cavallaro S. ; Ruggieri M. ;Muglia M.
Report of an ALS case associated with a new mutation in the TARDBP gene
2017 F.L. Conforti; A. Patitucci; A. Magariello; M. Muglia; R. Mazzei; V. La Bella
VarHunter: a platform to process and analyze data from patients with neurological diseases
2017 Monetti, S; Calimeri, F; Qualtieri, A; Magariello, A; Patitucci, A; Cavallaro, S; Conforti, Fl; Muglia, M; Citrigno, L
A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B
2016 Cortese, Rosa; Zoccolella, Stefano; Muglia, Maria; Patitucci, Alessandra; Scarafino, Antonio; Paolicelli, Damiano; Laura Simone, Isabella
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease | 1-gen-2021 | A Cerantonio; S De Benedittis; PL Lanza; M Muglia; F Cavalcanti; P Spadafora; N Romeo; O Gallo; G Di Palma; R Mazzei; A Qualtieri; L Citrigno; | |
| A 71-nucleotide Deletion in the Periaxin Gene in an Italian Patient With Late-Onset Slowly Progressive Demyelinating CMT | 1-gen-2020 | Citrigno, Luigi; Zoccolella, Stefano; Lastella, Patrizia; Laura Simone, Isabella; Muglia, Maria | |
| The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives | 1-gen-2020 | Citrigno, Luigi; Muglia, Maria; Qualtieri, Antonio; Spadafora, Patrizia; Cavalcanti, Francesca; Pioggia, Giovanni; Cerasa, Antonio | |
| Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report | 1-gen-2019 | Sprovieri, Teresa; Ungaro, Carmine; Sivo, Serena; Quintiliani, Michela; Contaldo, Laria; Veredice, Chiara; Citrigno, Luigi; Muglia, Maria; Cavalcanti, Francesca; Cavallaro, Sebastiano; Maria Mercuri, Eugenio; Battaglia, Domenica | |
| Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach | 1-gen-2019 | Citrigno, L; LA COGNATA, Valentina; Spadafora, P; Qualtieri, A; Romeo, N; De Benedittis, S; Cerantonio, A; Muglia, M; Bellofatto, M; Criscuolo, C; De Rosa, A; De Michele, G; Cavalcanti, F | |
| Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease | 1-gen-2019 | A Cerantonio; S De Benedittis; PL Lanza; M Muglia; F Cavalcanti; P Spadafora; N Romeo; O Gallo; G Di Palma; R Mazzei; A Qualtieri; L Citrigno; | |
| Rare variants detected by Next Generation Sequencing in two siblings affected by late onset Parkinson's disease | 1-gen-2019 | Francesca Cavalcanti; Valentina La Cognata; Patrizia Spadafora; Annamaria Cerantonio; Antonio Qualtieri; Selene De Benedittis; Nelide Romeo; Maria Muglia; Marta Bellofatto; Chiara Criscuolo; Anna De Rosa; Giuseppe De Michele; Luigi Citrigno | |
| Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies | 1-gen-2019 | Citrigno, L; Cerantonio, Am; DE BENEDITTIS, Selene; DI PALMA, Gemma; Patitucci, A; Cavalcanti, F; Muglia, M | |
| ALS and CHARGE syndrome: a clinical and genetic study | 1-gen-2018 | Ungaro, Carmine; Citrigno, Luigi; Trojsi, Francesca; Sprovieri, Teresa; Gentile, Giulia; Muglia, Maria; Monsurro Maria, Rosaria; Tedeschi, Gioacchino; Cavallaro, Sebastiano; Conforti, FRANCESCA LUISA | |
| Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy | 1-gen-2018 | Sprovieri, T; Ungaro, C; Battaglia, D; Sivo, S; Musto, E; Quintiliani, M; Contaldo, I; Citrigno, L; Muglia, M; Cavalcanti, F | |
| Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia. | 1-gen-2018 | Citrigno L ; Magariello A ; Pugliese P ; Di Palma G ; Conforti FL ; Petrone A ; Muglia M | |
| NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders | 1-gen-2018 | La Cognata, Valentina; Morello, Giovanna; Gentile, Giulia; Cavalcanti, Francesca; Cittadella, Rita; Conforti, Francesca Luisa; De Marco, Elvira Valeria; Magariello, Angela; Muglia, Maria; Patitucci, Alessandra; Spadafora, Patrizia; D'Agata, Velia; Ruggieri, Martino; Cavallaro, Sebastiano | |
| Targeted NGS-panel can improve the simultaneous identification of CNVs and SNVs in Mendelian diseases | 1-gen-2018 | Citrigno, L; Magariello, A; Praticò, A; Ruggieri, M; Muglia, M | |
| A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas | 1-gen-2017 | Caltabiano, R; Magro, G; Polizzi, A; Pratico, Ad; Ortensi, A; D'Orazi, V; Panunzi, A; Milone, P; Maiolino, L; Nicita, F; Capone, Gl; Sestini, R; Paganini, I; Muglia, M; Cavallaro, S; Lanzafame, S; Papi, L; Ruggieri, M | |
| CHARGE syndrome and ALS: a clinical and genetic study of a family from Southern Italy. | 1-gen-2017 | Ungaro, C; Citrigno, L; Gentile, G; Patitucci, A; Magariello, A; Muglia, M; Cavallaro, S; Trojsi, F; Conforti, F L | |
| Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments | 1-gen-2017 | Magariello A.; Russo C.; Citrigno L.; Zuchner S.; Patitucci A.; Mazzei R.; Conforti F.L.; Ferlazzo E.; Aguglia U.; Muglia M | |
| RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING. | 1-gen-2017 | Citrigno L.; Gentile G. ; Praticò A. ; Conforti FL. ; Magariello A. ; Patitucci A. ; Cavallaro S. ; Ruggieri M. ;Muglia M. | |
| Report of an ALS case associated with a new mutation in the TARDBP gene | 1-gen-2017 | F.L. Conforti; A. Patitucci; A. Magariello; M. Muglia; R. Mazzei; V. La Bella | |
| VarHunter: a platform to process and analyze data from patients with neurological diseases | 1-gen-2017 | Monetti, S; Calimeri, F; Qualtieri, A; Magariello, A; Patitucci, A; Cavallaro, S; Conforti, Fl; Muglia, M; Citrigno, L | |
| A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B | 1-gen-2016 | Cortese, Rosa; Zoccolella, Stefano; Muglia, Maria; Patitucci, Alessandra; Scarafino, Antonio; Paolicelli, Damiano; Laura Simone, Isabella |