MUGLIA, MARIA
MUGLIA, MARIA
Istituto per la Ricerca e l'Innovazione Biomedica -IRIB
5-HTTLPR, anxiety, and gender interaction moderates right amygdala volume in healthy subjects
2013 Cerasa A; Quattrone A; Piras F; Mangone G; Magariello A; Fagioli S; Girardi P; Muglia M; Caltagirone C; Spalletta G
: Studies on four restriction fragment length polymprphisms of the type I collagen genes in two Italian populations
1990 Pepe, G; Muglia, M; Brancati, C; Modiano, G
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
A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2
2007 A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone
A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2
2006 L Gabriele, A; Ruggieri, M; Nucifora, C; Patitucci, A; Sprovieri, T; Magariello, A; Mazzei, R; L Conforti, F; Cungaro, ; Muglia, M; Quattrone, A
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
2002 Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, Fl; Mazzei, R; Caracciolo, M; Casari, G; Ardito, B; Lastilla, M; Gambardella, A; Quattrone, A
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 A.D.; Ortensi A.; D'Orazi V.; Panunzi A.; Milone P.; Maiolino L.; Nicita F.; Capone G.L.; Sestini R.; Paganini I.; Muglia M.; Cavallaro S.; Lanzafame S.; Papi L.; Ruggieri M.
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
2004 Conforti, Fl; Muglia, M; Mazzei, R; Patitucci, A; Valentino, P; Magariello, A; Sprovieri, T; Bono, F; Bergmann, C; Gabriele, Al; Peluso, G; Nisticò, R; Senderek, J; Quattrone, A
A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy
2007 T. Sprovieri; M. Fusaro; C. Ungaro; R. Mazzei; A. Magariello; A. Patitucci; L. Citrigno; V. La Bella;A. Gabriele; M. Muglia; F.L. Conforti
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
2007 Muglia, M; Vazza, G; Patitucci, A; Milani, M; Pareyson, D; Taroni, F; Quattrone, A; Mostacciuolo, Ml
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.
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter
2007 A Magariello; L Citrigno; L Passamonti; A Patitucci; FL Conforti; AL Gabriele; R Mazzei; T Sprovieri; C Ungaro; M Bellesi; M Muglia
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter
2007 Muglia, Maria; Magariello, Angela; Citrigno, Luigi; Passamonti, Luca; Patitucci, Alessandra; Conforti, FRANCESCA LUISA; Gabriele, ANNA LIA; Mazzei, Rosalucia; Sprovieri, Teresa; Ungaro, Carmine; Bellesi, Michele; Quattrone, Aldo
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.
2008 Muglia, M; Magariello, A; Citrigno, L; Passamonti, L; Sprovieri, T; Conforti, Fl; Mazzei, R; Patitucci, A; Gabriele, Al; Ungaro, C; Bellesi, M; Quattrone, A
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia
2012 A. Magariello; C. Tortorella; A. Patitucci; R. Tortelli; M. Liguori; R. Mazzei; F. L. Conforti; L. Citrigno; C. Ungaro; I. L. Simone; M. Muglia
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father
2007 A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone
A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER
2007 A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone
A NOVEL MUTATION IN CX32 IDENTIFIED IN A PATIENT WITH DEMYELINATING SENSORY-MOTOR NEUROPATHY AND SECONDARY AXONOPATHY
2011 A. Patitucci; C. Tortorella; M. Liguori; A. Magariello; R. Mazzei; FL. Conforti; W. Sproviero; L. Citrigno; A. Morabito; C. Ungaro; A. Gambardella;M. Muglia
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia.
2008 A Magariello; L Citrigno; A Patitucci; R. Mazzei; FL Conforti; AL Gabriele; T Sprovieri; C Ungaro; M Muglia.
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis
2002 Mazzei, R; Conforti, Fl; Magariello, A; Bravaccio, C; Militerni, R; Gabriele, Al; Sampaolo, S; Patitucci, A; Di Iorio, G; Muglia, M; Quattrone, A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 5-HTTLPR, anxiety, and gender interaction moderates right amygdala volume in healthy subjects | 1-gen-2013 | Cerasa A; Quattrone A; Piras F; Mangone G; Magariello A; Fagioli S; Girardi P; Muglia M; Caltagirone C; Spalletta G | |
| : Studies on four restriction fragment length polymprphisms of the type I collagen genes in two Italian populations | 1-gen-1990 | Pepe, G; Muglia, M; Brancati, C; Modiano, G | |
| 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 | |
| A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 | 1-gen-2007 | A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone | |
| A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 | 1-gen-2006 | L Gabriele, A; Ruggieri, M; Nucifora, C; Patitucci, A; Sprovieri, T; Magariello, A; Mazzei, R; L Conforti, F; Cungaro, ; Muglia, M; Quattrone, A | |
| A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. | 1-gen-2002 | Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, Fl; Mazzei, R; Caracciolo, M; Casari, G; Ardito, B; Lastilla, M; Gambardella, A; Quattrone, A | |
| 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 A.D.; Ortensi A.; D'Orazi V.; Panunzi A.; Milone P.; Maiolino L.; Nicita F.; Capone G.L.; Sestini R.; Paganini I.; Muglia M.; Cavallaro S.; Lanzafame S.; Papi L.; Ruggieri M. | |
| A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). | 1-gen-2004 | Conforti, Fl; Muglia, M; Mazzei, R; Patitucci, A; Valentino, P; Magariello, A; Sprovieri, T; Bono, F; Bergmann, C; Gabriele, Al; Peluso, G; Nisticò, R; Senderek, J; Quattrone, A | |
| A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy | 1-gen-2007 | T. Sprovieri; M. Fusaro; C. Ungaro; R. Mazzei; A. Magariello; A. Patitucci; L. Citrigno; V. La Bella;A. Gabriele; M. Muglia; F.L. Conforti | |
| A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. | 1-gen-2007 | Muglia, M; Vazza, G; Patitucci, A; Milani, M; Pareyson, D; Taroni, F; Quattrone, A; Mostacciuolo, Ml | |
| 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. | |
| A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter | 1-gen-2007 | A Magariello; L Citrigno; L Passamonti; A Patitucci; FL Conforti; AL Gabriele; R Mazzei; T Sprovieri; C Ungaro; M Bellesi; M Muglia | |
| A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter | 1-gen-2007 | Muglia, Maria; Magariello, Angela; Citrigno, Luigi; Passamonti, Luca; Patitucci, Alessandra; Conforti, FRANCESCA LUISA; Gabriele, ANNA LIA; Mazzei, Rosalucia; Sprovieri, Teresa; Ungaro, Carmine; Bellesi, Michele; Quattrone, Aldo | |
| A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. | 1-gen-2008 | Muglia, M; Magariello, A; Citrigno, L; Passamonti, L; Sprovieri, T; Conforti, Fl; Mazzei, R; Patitucci, A; Gabriele, Al; Ungaro, C; Bellesi, M; Quattrone, A | |
| A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia | 1-gen-2012 | A. Magariello; C. Tortorella; A. Patitucci; R. Tortelli; M. Liguori; R. Mazzei; F. L. Conforti; L. Citrigno; C. Ungaro; I. L. Simone; M. Muglia | |
| A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father | 1-gen-2007 | A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone | |
| A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER | 1-gen-2007 | A.L. Gabriele; M. Ruggieri; C. Nucifora; A. Patitucci; T. Sprovieri; A. Magariello; R. Mazzei; F.L. Conforti; C. Ungaro; M. Muglia; A. Quattrone | |
| A NOVEL MUTATION IN CX32 IDENTIFIED IN A PATIENT WITH DEMYELINATING SENSORY-MOTOR NEUROPATHY AND SECONDARY AXONOPATHY | 1-gen-2011 | A. Patitucci; C. Tortorella; M. Liguori; A. Magariello; R. Mazzei; FL. Conforti; W. Sproviero; L. Citrigno; A. Morabito; C. Ungaro; A. Gambardella;M. Muglia | |
| A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. | 1-gen-2008 | A Magariello; L Citrigno; A Patitucci; R. Mazzei; FL Conforti; AL Gabriele; T Sprovieri; C Ungaro; M Muglia. | |
| A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis | 1-gen-2002 | Mazzei, R; Conforti, Fl; Magariello, A; Bravaccio, C; Militerni, R; Gabriele, Al; Sampaolo, S; Patitucci, A; Di Iorio, G; Muglia, M; Quattrone, A |