Sfoglia per Autore
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience
2016-01-01 Luigetti, Marco; Fabrizi, Gian Maria; Bisogni, Giulia; Romano, Angela; Taioli, Federica; Ferrarini, Moreno; Bernardo, Daniela; Rossini, Paolo Maria; Sabatelli, Mario
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES
2016-01-01 Zanette, G.; Tamburin, Stefano; Cavallaro, Tiziana; Magrinelli, Francesca; Cabrini, Ilaria; Taioli, Federica; Fabrizi, Gian Maria
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study
2018-01-01 Fabrizi, Gian Maria; Tamburin, Stefano; Cavallaro, Tiziana; Cabrini, Ilaria; Ferrarini, Moreno; Taioli, Federica; Magrinelli, Francesca; Zanette, Giampietro
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs
2018-01-01 Zanette, Giampietro; Fabrizi, Gian Maria; Taioli, Federica; Lauriola, Matteo Francesco; Badari, Andrea; Ferrarini, Moreno; Cavallaro, Tiziana; Tamburin, Stefano
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A
2019-01-01 Zanette, Giampietro; Tamburin, Stefano; Taioli, Federica; Lauriola, Matteo Francesco; Badari, Andrea; Ferrarini, Moreno; Cavallaro, Tiziana; Fabrizi, Gian Maria
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I
2019-01-01 Boso, Federica; Armirotti, Andrea; Taioli, Federica; Ferrarini, Moreno; Nobbio, Lucilla; Cavallaro, Tiziana; Fabrizi, Gian Maria
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center
2020-01-01 Gentile, Luca; Russo, Massimo; Fabrizi, Gian Maria; Taioli, Federica; Ferrarini, Moreno; Testi, Silvia; Alfonzo, Annalisa; Aguennouz, M'Hammed; Toscano, Antonio; Vita, Giuseppe; Mazzeo, Anna
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags
2020-01-01 Campagnolo, Marta; Taioli, Federica; Cacciavillani, Mario; Ruiz, Marta; Luigetti, Marco; Salvalaggio, Alessandro; Castellani, Francesca; Testi, Silvia; Ferrarini, Moreno; Cavallaro, Tiziana; Gasparotti, Roberto; Fabrizi, Gian Maria; Briani, Chiara
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene
2020-01-01 Fabrizi, Gian Maria; Høyer, Helle; Taioli, Federica; Cavallaro, Tiziana; Hilmarsen, Hilde Tveitan; Squintani, Giovanna Maddalena; Zanette, Giampietro; Braathen, Geir Julius
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH
2020-01-01 Boso, Federica; Zanette, Giampietro; Baldinotti, Fulvia; Bertelloni, Silvano; Taioli, Federica; Monaco, Salvatore; Fabrizi, Gian Maria; Cavallaro, Tiziana
Very early onset of ATTRE89Q amyloidosis in a homozygous patient
2021-01-01 Russo, Massimo; Cucinotta, Francescopaolo; Gentile, Luca; Fabrizi, Gian Maria; Taioli, Federica; Vita, Giuseppe; Toscano, Antonio; Mazzeo, Anna
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis
2021-01-01 Boso, Federica; Taioli, Federica; Cabrini, Ilaria; Cavallaro, Tiziana; Fabrizi, Gian Maria
CIDP, CMT1B, or CMT1B plus CIDP?
2021-01-01 Cardellini, Davide; Zanette, Giampietro; Taioli, Federica; Bertolasi, Laura; Ferrari, Sergio; Cavallaro, Tiziana; Fabrizi, Gian Maria
Rare among rare: phenotypes of uncommon CMT genotypes
2021-01-01 Gentile, Luca; Russo, Massimo; Taioli, Federica; Ferrarini, Moreno; Aguennouz, M'Hammed; Rodolico, Carmelo; Toscano, Antonio; Fabrizi, Gian Maria; Mazzeo, Anna
Neuropathic pain in Charcot-Marie-Tooth Disease
2022-01-01 Peretti, A; Squintani, G; Taioli, F; Tagliapietra, M; Cavallaro, T; Fabrizi, G M
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry
2023-01-01 Pisciotta, Chiara; Bertini, Alessandro; Tramacere, Irene; Manganelli, Fiore; Fabrizi, Gian Maria; Schenone, Angelo; Tozza, Stefano; Cavallaro, Tiziana; Taioli, Federica; Ferrarini, Moreno; Grandis, Marina; Bellone, Emilia; Mandich, Paola; Previtali, Stefano C; Falzone, Yuri; Allegri, Isabella; Padua, Luca; Pazzaglia, Costanza; Quattrone, Aldo; Valentino, Paola; Gentile, Luca; Russo, Massimo; Calabrese, Daniela; Moroni, Isabella; Pagliano, Emanuela; Saveri, Paola; Magri, Stefania; Baratta, Silvia; Taroni, Franco; Mazzeo, Anna; Santoro, Lucio; Vita, Giuseppe; Pareyson, Davide
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience | 1-gen-2016 | Luigetti, Marco; Fabrizi, Gian Maria; Bisogni, Giulia; Romano, Angela; Taioli, Federica; Ferrarini, Moreno; Bernardo, Daniela; Rossini, Paolo Maria; Sabatelli, Mario | |
| NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES | 1-gen-2016 | Zanette, G.; Tamburin, Stefano; Cavallaro, Tiziana; Magrinelli, Francesca; Cabrini, Ilaria; Taioli, Federica; Fabrizi, Gian Maria | |
| The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study | 1-gen-2018 | Fabrizi, Gian Maria; Tamburin, Stefano; Cavallaro, Tiziana; Cabrini, Ilaria; Ferrarini, Moreno; Taioli, Federica; Magrinelli, Francesca; Zanette, Giampietro | |
| Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs | 1-gen-2018 | Zanette, Giampietro; Fabrizi, Gian Maria; Taioli, Federica; Lauriola, Matteo Francesco; Badari, Andrea; Ferrarini, Moreno; Cavallaro, Tiziana; Tamburin, Stefano | |
| Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A | 1-gen-2019 | Zanette, Giampietro; Tamburin, Stefano; Taioli, Federica; Lauriola, Matteo Francesco; Badari, Andrea; Ferrarini, Moreno; Cavallaro, Tiziana; Fabrizi, Gian Maria | |
| Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I | 1-gen-2019 | Boso, Federica; Armirotti, Andrea; Taioli, Federica; Ferrarini, Moreno; Nobbio, Lucilla; Cavallaro, Tiziana; Fabrizi, Gian Maria | |
| Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center | 1-gen-2020 | Gentile, Luca; Russo, Massimo; Fabrizi, Gian Maria; Taioli, Federica; Ferrarini, Moreno; Testi, Silvia; Alfonzo, Annalisa; Aguennouz, M'Hammed; Toscano, Antonio; Vita, Giuseppe; Mazzeo, Anna | |
| Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags | 1-gen-2020 | Campagnolo, Marta; Taioli, Federica; Cacciavillani, Mario; Ruiz, Marta; Luigetti, Marco; Salvalaggio, Alessandro; Castellani, Francesca; Testi, Silvia; Ferrarini, Moreno; Cavallaro, Tiziana; Gasparotti, Roberto; Fabrizi, Gian Maria; Briani, Chiara | |
| Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene | 1-gen-2020 | Fabrizi, Gian Maria; Høyer, Helle; Taioli, Federica; Cavallaro, Tiziana; Hilmarsen, Hilde Tveitan; Squintani, Giovanna Maddalena; Zanette, Giampietro; Braathen, Geir Julius | |
| Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH | 1-gen-2020 | Boso, Federica; Zanette, Giampietro; Baldinotti, Fulvia; Bertelloni, Silvano; Taioli, Federica; Monaco, Salvatore; Fabrizi, Gian Maria; Cavallaro, Tiziana | |
| Very early onset of ATTRE89Q amyloidosis in a homozygous patient | 1-gen-2021 | Russo, Massimo; Cucinotta, Francescopaolo; Gentile, Luca; Fabrizi, Gian Maria; Taioli, Federica; Vita, Giuseppe; Toscano, Antonio; Mazzeo, Anna | |
| Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis | 1-gen-2021 | Boso, Federica; Taioli, Federica; Cabrini, Ilaria; Cavallaro, Tiziana; Fabrizi, Gian Maria | |
| CIDP, CMT1B, or CMT1B plus CIDP? | 1-gen-2021 | Cardellini, Davide; Zanette, Giampietro; Taioli, Federica; Bertolasi, Laura; Ferrari, Sergio; Cavallaro, Tiziana; Fabrizi, Gian Maria | |
| Rare among rare: phenotypes of uncommon CMT genotypes | 1-gen-2021 | Gentile, Luca; Russo, Massimo; Taioli, Federica; Ferrarini, Moreno; Aguennouz, M'Hammed; Rodolico, Carmelo; Toscano, Antonio; Fabrizi, Gian Maria; Mazzeo, Anna | |
| Neuropathic pain in Charcot-Marie-Tooth Disease | 1-gen-2022 | Peretti, A; Squintani, G; Taioli, F; Tagliapietra, M; Cavallaro, T; Fabrizi, G M | |
| Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry | 1-gen-2023 | Pisciotta, Chiara; Bertini, Alessandro; Tramacere, Irene; Manganelli, Fiore; Fabrizi, Gian Maria; Schenone, Angelo; Tozza, Stefano; Cavallaro, Tiziana; Taioli, Federica; Ferrarini, Moreno; Grandis, Marina; Bellone, Emilia; Mandich, Paola; Previtali, Stefano C; Falzone, Yuri; Allegri, Isabella; Padua, Luca; Pazzaglia, Costanza; Quattrone, Aldo; Valentino, Paola; Gentile, Luca; Russo, Massimo; Calabrese, Daniela; Moroni, Isabella; Pagliano, Emanuela; Saveri, Paola; Magri, Stefania; Baratta, Silvia; Taroni, Franco; Mazzeo, Anna; Santoro, Lucio; Vita, Giuseppe; Pareyson, Davide |
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