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
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
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
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
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
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
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
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies
2016 Ruggieri, M.; Pratico, A. D.; Serra, A.; Maiolino, L.; Cocuzza, S.; Di Mauro, P.; Licciardello, L.; Milone, P.; Privitera, G.; Belfiore, G.; Di Pietro, M.; Di Raimondo, F.; Romano, A.; Chiarenza, A.; Muglia, M.; Polizzi, A.; Evans, D. G.
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling
2016 Gregianin, E; Pallafacchina, G; Zanin, S; Crippa, V; Rusmini, P; Poletti, A; Fang, M; Li, Z; Diano, L; Petrucci, A; Lispi, L; Cavallaro, T; Fabrizi, G M; Muglia, M; Boaretto, F; Vettori, A; Rizzuto, R; Mostacciuolo, M L; Vazza, G
The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features
2015 Ruggieri, M; Polizzi, A; Spalice, A; Salpietro, V; Caltabiano, R; D'Orazi, V; Pavone, P; Pirrone, C; Magro, G; Platania, N; Cavallaro, S; Muglia, M; Nicita, F
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness
2014 Muglia M.; Citrigno L.; D'Errico E.; Magariello A.; Distaso E.; Gasparro A.A.; Scarafino A.; Patitucci A.; Conforti F.L.; Mazzei R.; Cortese R.; Tortelli R.; L. Simone I.
Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls
2014 R. Mazzei; C. Ungaro; F. L. Conforti; S. Bianchi; A. Magariello; A. Patitucci; M. Muglia; M. T. Dotti; A. Federico; A. Qualtieri
Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC
2014 Magariello, Angela; Citrigno, L; Vsofia, ; Patitucci, A; Conforti, Fl; Mazzei, R; Ungaro, C; Pappalardo, I; Zappia, M; Gonzalez, M; Zuchner, S; Muglia, M
EXOME SEQUENCING REVEALS TWO COMPOUND HETEROZYGOUS DDHD2 MUTATIONS IN A NON CONSANGUINEOUS SICILIAN FAMILY WITH ARHSP-TCC
2014 Magariello, Angela; Citrigno, L; Sofia, V; Patitucci, A; Conforti, F; Mazzei, R; Pappalardo, I; Mzappia, ; Gonzalez, M; Zuchner, S; Muglia, M
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum
2014 Magariello A.; Citrigno L.; Zuchner S.; Gonzalez M.; Patitucci A.; Sofia V.; Conforti F.L.; Pappalardo I.; Mazzei R.; Ungaro C.; Zappia M.; Muglia M.
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case
2014 Rosalucia Mazzei; Sergio Valentini; Francesca Luisa Conforti; Maria Muglia; Olivier Gallo; Antonio Cerasa; Alessandra Patitucci; Angela Magariello; Paolo Perrotta; Pier Luigi Lanza
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies | 1-gen-2016 | Ruggieri, M.; Pratico, A. D.; Serra, A.; Maiolino, L.; Cocuzza, S.; Di Mauro, P.; Licciardello, L.; Milone, P.; Privitera, G.; Belfiore, G.; Di Pietro, M.; Di Raimondo, F.; Romano, A.; Chiarenza, A.; Muglia, M.; Polizzi, A.; Evans, D. G. | |
| Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling | 1-gen-2016 | Gregianin, E; Pallafacchina, G; Zanin, S; Crippa, V; Rusmini, P; Poletti, A; Fang, M; Li, Z; Diano, L; Petrucci, A; Lispi, L; Cavallaro, T; Fabrizi, G M; Muglia, M; Boaretto, F; Vettori, A; Rizzuto, R; Mostacciuolo, M L; Vazza, G | |
| The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features | 1-gen-2015 | Ruggieri, M; Polizzi, A; Spalice, A; Salpietro, V; Caltabiano, R; D'Orazi, V; Pavone, P; Pirrone, C; Magro, G; Platania, N; Cavallaro, S; Muglia, M; Nicita, F | |
| A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness | 1-gen-2014 | Muglia M.; Citrigno L.; D'Errico E.; Magariello A.; Distaso E.; Gasparro A.A.; Scarafino A.; Patitucci A.; Conforti F.L.; Mazzei R.; Cortese R.; Tortelli R.; L. Simone I. | |
| Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls | 1-gen-2014 | R. Mazzei; C. Ungaro; F. L. Conforti; S. Bianchi; A. Magariello; A. Patitucci; M. Muglia; M. T. Dotti; A. Federico; A. Qualtieri | |
| Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC | 1-gen-2014 | Magariello, Angela; Citrigno, L; Vsofia, ; Patitucci, A; Conforti, Fl; Mazzei, R; Ungaro, C; Pappalardo, I; Zappia, M; Gonzalez, M; Zuchner, S; Muglia, M | |
| EXOME SEQUENCING REVEALS TWO COMPOUND HETEROZYGOUS DDHD2 MUTATIONS IN A NON CONSANGUINEOUS SICILIAN FAMILY WITH ARHSP-TCC | 1-gen-2014 | Magariello, Angela; Citrigno, L; Sofia, V; Patitucci, A; Conforti, F; Mazzei, R; Pappalardo, I; Mzappia, ; Gonzalez, M; Zuchner, S; Muglia, M | |
| Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum | 1-gen-2014 | Magariello A.; Citrigno L.; Zuchner S.; Gonzalez M.; Patitucci A.; Sofia V.; Conforti F.L.; Pappalardo I.; Mazzei R.; Ungaro C.; Zappia M.; Muglia M. | |
| Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case | 1-gen-2014 | Rosalucia Mazzei; Sergio Valentini; Francesca Luisa Conforti; Maria Muglia; Olivier Gallo; Antonio Cerasa; Alessandra Patitucci; Angela Magariello; Paolo Perrotta; Pier Luigi Lanza |