MEARINI, MARZIA
MEARINI, MARZIA
DIPARTIMENTO DI MEDICINA SPERIMENTALE (attivo dal 01/01/2014 al 31/10/2020)
A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4)
2016 Orlacchio, A; Mearini, M; Pedace, L; Casella, A; Montecchiani, C; Gaudiello, F; Miele, M; Massa, R; Caltagirone, C; Munhoz, Rp; Pedroso, Jl; Barsottini, Ogp; Kawarai, T
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease
2016 Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso José, L; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop Peter, H; Barsottini Orlando, Gp; Kawarai, Toshitaka; Orlacchio, Antonio
Clinical and genetic study of a Japanese family with complicated hereditary spastic paraplegia and Alzheimer's disease
2017 Montecchiani, C; D’Onofrio, L; Mearini, M; Gaudiello, F; Miele, M; Caltagirone, C; Kawarai, T; Orlacchio, A.
Hereditary Spastic Paraplegia Type 4 (SPG4): A Clinico-Genetic Study in a Large Cohort of Patients with Spastic Paraplegia
2016 Mearini, M; Pedace, L; Casella, A; Montecchiani, C; Gaudiello, F; Miele, M; Massa, R; Caltagirone, C; Munhoz, R; Pedroso, Jl; Barsottini, Ogp; Kawarai, T; Orlacchio, A
Identification of ALS5/SPG11/KIAA1840 Mutations in Patients with Autosomal Recessive Form of Charcot-Marie-Tooth Disease Type 2
2016 Montecchiani, C; Pedace, L; Lo Giudice, T; Casella, A; Mearini, M; Gaudiello, F; Pedroso, Jl; Terracciano, C; Caltagirone, C; Massa, R; St George-Hyslop, Ph; Barsottini, Ogp; Kawarai, T; Orlacchio, A
miR128 up-regulation correlates with impaired Amyloid-β42 degradation in monocytes of patients with sporadic Alzheimer’s disease
2013 Tiribuzi, R; Crispoltoni, L; Porcellati, S; Mearini, M; Di Lullo, M; Florenzano, F; Pirro, M; Bagaglia, F; Palmerini, Ca; Miele, M; Kawarai, T; Zampolini, M; Orlacchio, A; Orlacchio, A
Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability
2017 Orlacchio, A; Montecchiani, C; Miyamoto, R; Mearini, M; D'Onofrio, L; Miele, M; Gaudiello, F; Izumi, Y; Caltagirone, C; Kaji, R; Kawarai, T
SPG11 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease
2015 Lo Giudice, T; Montecchiani, C; Di Lullo, M; Mearini, M; Casella, A; Gaudiello, F; Terracciano, C; Massa, R; Rogaeva, E; St George-Hyslop, Ph; Pedroso, Jl; Barsottini, Ogp; Kawarai, T; Orlacchio, A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4) | 2016 | Orlacchio, A; Mearini, M; Pedace, L; Casella, A; Montecchiani, C; Gaudiello, F; Miele, M; Massa, R; Caltagirone, C; Munhoz, Rp; Pedroso, Jl; Barsottini, Ogp; Kawarai, T | |
| ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease | 2016 | Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso José, L; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop Peter, H; Barsottini Orlando, Gp; Kawarai, Toshitaka; Orlacchio, Antonio | |
| Clinical and genetic study of a Japanese family with complicated hereditary spastic paraplegia and Alzheimer's disease | 2017 | Montecchiani, C; D’Onofrio, L; Mearini, M; Gaudiello, F; Miele, M; Caltagirone, C; Kawarai, T; Orlacchio, A. | |
| Hereditary Spastic Paraplegia Type 4 (SPG4): A Clinico-Genetic Study in a Large Cohort of Patients with Spastic Paraplegia | 2016 | Mearini, M; Pedace, L; Casella, A; Montecchiani, C; Gaudiello, F; Miele, M; Massa, R; Caltagirone, C; Munhoz, R; Pedroso, Jl; Barsottini, Ogp; Kawarai, T; Orlacchio, A | |
| Identification of ALS5/SPG11/KIAA1840 Mutations in Patients with Autosomal Recessive Form of Charcot-Marie-Tooth Disease Type 2 | 2016 | Montecchiani, C; Pedace, L; Lo Giudice, T; Casella, A; Mearini, M; Gaudiello, F; Pedroso, Jl; Terracciano, C; Caltagirone, C; Massa, R; St George-Hyslop, Ph; Barsottini, Ogp; Kawarai, T; Orlacchio, A | |
| miR128 up-regulation correlates with impaired Amyloid-β42 degradation in monocytes of patients with sporadic Alzheimer’s disease | 2013 | Tiribuzi, R; Crispoltoni, L; Porcellati, S; Mearini, M; Di Lullo, M; Florenzano, F; Pirro, M; Bagaglia, F; Palmerini, Ca; Miele, M; Kawarai, T; Zampolini, M; Orlacchio, A; Orlacchio, A | |
| Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability | 2017 | Orlacchio, A; Montecchiani, C; Miyamoto, R; Mearini, M; D'Onofrio, L; Miele, M; Gaudiello, F; Izumi, Y; Caltagirone, C; Kaji, R; Kawarai, T | |
| SPG11 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease | 2015 | Lo Giudice, T; Montecchiani, C; Di Lullo, M; Mearini, M; Casella, A; Gaudiello, F; Terracciano, C; Massa, R; Rogaeva, E; St George-Hyslop, Ph; Pedroso, Jl; Barsottini, Ogp; Kawarai, T; Orlacchio, A |