MONTECCHIANI, CELESTE
MONTECCHIANI, CELESTE
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
A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer's disease
2018 Orlacchio, A; Montecchiani, C; Rumore, R; Gaudiello, F; Miele, M; Caltagirone, C; 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.
Clinical and genetic study of an Italian family with complicated hereditary spastic paraplegia and Alzheimer's disease
2018 Montecchiani, C; Rumore, R; Gaudiello, F; Miele, M; Caltagirone, C; Kawarai, T; Orlacchio, A
Clinico-genetic study of two Japanese pedigrees with hereditary spastic paraparesis and Alzheimer’s disease
2020 Rumore, R; Montecchiani, C; Gaudiello, F; Miele, M; Kawarai, T; Orlacchio, A
Hereditary spastic paraplegia and Alzheimer’s disease: clinical and genetic study of a Brazilian family
2019 Rumore, R; Montecchiani, C; Gaudiello, F; Miele, M; Pedroso, Jl; Barsottini, Ogp; 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
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease
2018 Kawarai, Toshitaka; Miyamoto, Ryosuke; Nakagawa, Eiji; Koichihara, Reiko; Sakamoto, Takashi; Mure, Hideo; Morigaki, Ryoma; Koizumi, Hidetaka; Oki, Ryosuke; Montecchiani, Celeste; Caltagirone, Carlo; Orlacchio, Antonio; Hattori, Ayako; Et, Al
Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability
2018 Kamada, Masaki; Kawarai, Toshitaka; Miyamoto, Ryosuke; Kawakita, Rie; Tojima, Yuki; Montecchiani, Celeste; D'Onofrio, Laura; Caltagirone, Carlo; Orlacchio, Antonio; Kaji, Ryuji
Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability
2017 Orlacchio, A; Montecchiani, C; Miyamoto, R; D’Onofrio, L; Rumore, R; Miele, M; Gaudiello, F; Izumi, Y; Caltagirone, C; Kaji, R; Kawarai, T.
Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability
2017 Kawarai, T; Montecchiani, C; Miyamoto, R; Gaudiello, F; Miele, M; Izumi, Y; Kaji, R; Orlacchio, A.
Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability
2017 Kawarai, Toshitaka; Montecchiani, Celeste; Miyamoto, Ryosuke; Gaudiello, Fabrizio; Caltagirone, Carlo; Izumi, Yuishin; Kaji, Ryuji; Orlacchio, Antonio
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
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
2018 Faber, Ingrid; Martinez Alberto Rolim, Muro; de Rezende Thiago Junqueira, Ribeiro; Martins Carlos, Roberto; Martins Melina, Pazian; Lourenço Charles, Marques; Marques, Wilson; Montecchiani, Celeste; Orlacchio, Antonio; Pedroso Jose, Luiz; Barsottini Orlando Graziani, Povoas; Lopes-Cendes, Íscia; França Marcondes, Cavalcante
SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response
2018 Faber, Ingrid; Martinez Alberto Rolim, Muro; Martins Jr Carlos, Roberto; Maia Maidane, Luise; Souza Juliana, Pasquotto; Lourenço Charles, Marques; Marques Jr, Wilson; Montecchiani, Celeste; Orlacchio, Antonio; Pedroso Jose, Luiz; Barsottini Orlando Graziani, Povoas; Ramos Celso, Darío; Lopes-Cendes, Íscia; Et, Al
Trans-crocetin improves amyloid-β degradation in monocytes from Alzheimer's Disease patients
2017 Tiribuzi, Roberto; Crispoltoni, Lucia; Chiurchiù, Valerio; Casella, Antonella; Montecchiani, Celeste; DEL PINO, Alberto Marco; Maccarrone, Mauro; Palmerini, Carlo Alberto; Caltagirone, Carlo; Kawarai, Toshitaka; Orlacchio, Aldo; Orlacchio, Antonio
| 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 | |
| A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer's disease | 2018 | Orlacchio, A; Montecchiani, C; Rumore, R; Gaudiello, F; Miele, M; Caltagirone, C; 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. | |
| Clinical and genetic study of an Italian family with complicated hereditary spastic paraplegia and Alzheimer's disease | 2018 | Montecchiani, C; Rumore, R; Gaudiello, F; Miele, M; Caltagirone, C; Kawarai, T; Orlacchio, A | |
| Clinico-genetic study of two Japanese pedigrees with hereditary spastic paraparesis and Alzheimer’s disease | 2020 | Rumore, R; Montecchiani, C; Gaudiello, F; Miele, M; Kawarai, T; Orlacchio, A | |
| Hereditary spastic paraplegia and Alzheimer’s disease: clinical and genetic study of a Brazilian family | 2019 | Rumore, R; Montecchiani, C; Gaudiello, F; Miele, M; Pedroso, Jl; Barsottini, Ogp; 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 | |
| Phenotype variability and allelic heterogeneity in KMT2B-Associated disease | 2018 | Kawarai, Toshitaka; Miyamoto, Ryosuke; Nakagawa, Eiji; Koichihara, Reiko; Sakamoto, Takashi; Mure, Hideo; Morigaki, Ryoma; Koizumi, Hidetaka; Oki, Ryosuke; Montecchiani, Celeste; Caltagirone, Carlo; Orlacchio, Antonio; Hattori, Ayako; Et, Al | |
| Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability | 2018 | Kamada, Masaki; Kawarai, Toshitaka; Miyamoto, Ryosuke; Kawakita, Rie; Tojima, Yuki; Montecchiani, Celeste; D'Onofrio, Laura; Caltagirone, Carlo; Orlacchio, Antonio; Kaji, Ryuji | |
| Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability | 2017 | Orlacchio, A; Montecchiani, C; Miyamoto, R; D’Onofrio, L; Rumore, R; Miele, M; Gaudiello, F; Izumi, Y; Caltagirone, C; Kaji, R; Kawarai, T. | |
| Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability | 2017 | Kawarai, T; Montecchiani, C; Miyamoto, R; Gaudiello, F; Miele, M; Izumi, Y; Kaji, R; Orlacchio, A. | |
| Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability | 2017 | Kawarai, Toshitaka; Montecchiani, Celeste; Miyamoto, Ryosuke; Gaudiello, Fabrizio; Caltagirone, Carlo; Izumi, Yuishin; Kaji, Ryuji; Orlacchio, Antonio | |
| 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 | |
| SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage | 2018 | Faber, Ingrid; Martinez Alberto Rolim, Muro; de Rezende Thiago Junqueira, Ribeiro; Martins Carlos, Roberto; Martins Melina, Pazian; Lourenço Charles, Marques; Marques, Wilson; Montecchiani, Celeste; Orlacchio, Antonio; Pedroso Jose, Luiz; Barsottini Orlando Graziani, Povoas; Lopes-Cendes, Íscia; França Marcondes, Cavalcante | |
| SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response | 2018 | Faber, Ingrid; Martinez Alberto Rolim, Muro; Martins Jr Carlos, Roberto; Maia Maidane, Luise; Souza Juliana, Pasquotto; Lourenço Charles, Marques; Marques Jr, Wilson; Montecchiani, Celeste; Orlacchio, Antonio; Pedroso Jose, Luiz; Barsottini Orlando Graziani, Povoas; Ramos Celso, Darío; Lopes-Cendes, Íscia; Et, Al | |
| Trans-crocetin improves amyloid-β degradation in monocytes from Alzheimer's Disease patients | 2017 | Tiribuzi, Roberto; Crispoltoni, Lucia; Chiurchiù, Valerio; Casella, Antonella; Montecchiani, Celeste; DEL PINO, Alberto Marco; Maccarrone, Mauro; Palmerini, Carlo Alberto; Caltagirone, Carlo; Kawarai, Toshitaka; Orlacchio, Aldo; Orlacchio, Antonio |