MANGANELLI, FIORE
MANGANELLI, FIORE
DIPARTIMENTO DI NEUROSCIENZE E SCIENZE RIPRODUTTIVE ED ODONTOSTOMATOLOGICHE
Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease).
2007 Manganelli, Fiore; Iodice, V; Provitera, V; Pisciotta, C; Nolano, M; Perretti, A; Santoro, Lucio
Case of acute motor conduction block neuropathy (AMCBN)
2009 Manganelli, Fiore; Pisciotta, C; Iodice, Rosa; Calandro, S; Dubbioso, R; Ranieri, A; Santoro, Lucio; Dubbioso, Raffaele
Inherited neuromyotonia: A clinical and genetic study of a family.
2007 Falace, A; Striano, P; Manganelli, Fiore; Coppola, A; Striano, Salvatore; Minetti, C; Zara, F.; Coppola, Antonietta
A Novel mutat of melin protein zero associated with an axonal form of Charcot-Marie.Tooth disease
2004 Santoro, Lucio; Manganelli, Fiore; DI MARIA, E; Bordo, D; Cassandrini, D; Ajmar, F; Mandich, P; Bellone, E.
Small fiber neuropathy in the chronic phase of Chagas disease: a case report
2013 Nolano, Maria; Provitera, Vincenzo; Manganelli, Fiore; A., Pagano; A., Perretti; Santoro, Lucio
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
2006 Biancheri, R; Zara, F; Striano, P; Pedemonte, M; Cassandrini, D; Stringara, S; Manganelli, Fiore; Santoro, Lucio; Schenone, A; Bellone, E; Minetti, C.
Anti-GAD antibody ocular flutter: expanding the spectrum of autoimmune ocular motor disorders
2013 Dubbioso, Raffaele; Vincenzo, Marcelli; Manganelli, Fiore; Iodice, Rosa; Esposito, Marcello; Santoro, Lucio
Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome.
2008 Perretti, ANNA CARMELA AGNESE; Crispino, Gilda; Marcantonio, L; Lenta, Selvaggia; Caropreso, Maria; Manganelli, Fiore; Scianguetta, S; Iorio, Raffaele; Iolascon, Achille; Vajro, Pietro
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.
2002 Santoro, Lucio; Manganelli, Fiore; Di Maio, L; Barbieri, Fabrizio; Carella, M; D'Adamo, P; Casari, G.
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.
2006 Santoro, Lucio; Manganelli, Fiore; Lanzillo, Roberta; Tessa, A; Barbieri, Fabrizio; Pierelli, F; Di Giacinto, G; Nigro, V; Santorelli, F. M.
Electrophysiological comparison between males and females in HNPP.
2012 Manganelli, Fiore; Pisciotta, Chiara; Dubbioso, Raffaele; Maruotti, V; Iodice, Rosa; Notturno, F; Ruggiero, Lucia; Vitale, C; Nolano, M; Uncini, A; Santoro, Lucio; Nolano, Maria
Mutilating fingertip ulcers in uncontrolled type 1 diabetes mellitus.
2014 Dubbioso, Raffaele; Nolano, Maria; Mazzarella, Raffaella; Rivellese, ANGELA ALBAROSA; Manganelli, Fiore
Nine-year case history of monofocal motor neuropathy.
2008 Manganelli, Fiore; Pisciotta, Chiara; Iodice, Rosa; Calandro, Sara; Santoro, Lucio
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
2009 Mandich, P; Fossa, P; Capponi, S; Geroldi, A; Acquaviva, M; Gulli, R; Ciotti, P; Manganelli, Fiore; Grandis, M; Bellone, E.
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
2011 Santoro, Lucio; Breedveld, Gj; Manganelli, Fiore; Iodice, Rosa; Pisciotta, Chiara; Nolano, M; Punzo, F; Quarantelli, Mario; Pappatà, S; Di Fonzo, A; Oostra, Ba; Bonifati, V.
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
2012 Manganelli, Fiore; Pisciotta, Chiara; Nolano, M; Capponi, S; Geroldi, A; Topa, A; Bellone, E; Suls, A; Mandich, P; Santoro, Lucio; Nolano, Maria
Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease.
2000 Santoro, Lucio; A., Perretti; B., Lanzillo; G., Coppola; G. D., Joanna; Manganelli, Fiore; Cocozza, Sergio; DE MICHELE, Giuseppe; Filla, Alessandro; G., Caruso
A second family with hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibres, detected in the same geographic area as the first family.
1998 Santoro, Lucio; Barbieri, Fabrizio; Crisci, C; Gasparo Rippa, P; Manganelli, Fiore
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population
2014 Manganelli, Fiore; Tozza, Stefano; Pisciotta, Chiara; Bellone, Emilia; Iodice, Rosa; Nolano, Maria; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, Lucio; Nolano, Maria
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
2014 Manganelli, Fiore; Dubbioso, Raffaele; Iodice, Rosa; Topa, Antonietta; Dardis, A; Russo, Cv; Ruggiero, Lucia; Tozza, S; Filla, Alessandro; Santoro, Lucio
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease). | 1.1 Articolo in rivista | 2007 | Manganelli, Fiore; Iodice, V; Provitera, V; Pisciotta, C; Nolano, M; Perretti, A; Santoro, Lucio | |
| Case of acute motor conduction block neuropathy (AMCBN) | 1.1 Articolo in rivista | 2009 | Manganelli, Fiore; Pisciotta, C; Iodice, Rosa; Calandro, S; Dubbioso, R; Ranieri, A; Santoro, Lucio; Dubbioso, Raffaele | |
| Inherited neuromyotonia: A clinical and genetic study of a family. | 1.1 Articolo in rivista | 2007 | Falace, A; Striano, P; Manganelli, Fiore; Coppola, A; Striano, Salvatore; Minetti, C; Zara, F.; Coppola, Antonietta | |
| A Novel mutat of melin protein zero associated with an axonal form of Charcot-Marie.Tooth disease | 1.1 Articolo in rivista | 2004 | Santoro, Lucio; Manganelli, Fiore; DI MARIA, E; Bordo, D; Cassandrini, D; Ajmar, F; Mandich, P; Bellone, E. | |
| Small fiber neuropathy in the chronic phase of Chagas disease: a case report | 1.1 Articolo in rivista | 2013 | Nolano, Maria; Provitera, Vincenzo; Manganelli, Fiore; A., Pagano; A., Perretti; Santoro, Lucio | |
| GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. | 1.1 Articolo in rivista | 2006 | Biancheri, R; Zara, F; Striano, P; Pedemonte, M; Cassandrini, D; Stringara, S; Manganelli, Fiore; Santoro, Lucio; Schenone, A; Bellone, E; Minetti, C. | |
| Anti-GAD antibody ocular flutter: expanding the spectrum of autoimmune ocular motor disorders | 1.1 Articolo in rivista | 2013 | Dubbioso, Raffaele; Vincenzo, Marcelli; Manganelli, Fiore; Iodice, Rosa; Esposito, Marcello; Santoro, Lucio | |
| Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome. | 1.1 Articolo in rivista | 2008 | Perretti, ANNA CARMELA AGNESE; Crispino, Gilda; Marcantonio, L; Lenta, Selvaggia; Caropreso, Maria; Manganelli, Fiore; Scianguetta, S; Iorio, Raffaele; Iolascon, Achille; Vajro, Pietro | |
| Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. | 1.1 Articolo in rivista | 2002 | Santoro, Lucio; Manganelli, Fiore; Di Maio, L; Barbieri, Fabrizio; Carella, M; D'Adamo, P; Casari, G. | |
| A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy. | 1.1 Articolo in rivista | 2006 | Santoro, Lucio; Manganelli, Fiore; Lanzillo, Roberta; Tessa, A; Barbieri, Fabrizio; Pierelli, F; Di Giacinto, G; Nigro, V; Santorelli, F. M. | |
| Electrophysiological comparison between males and females in HNPP. | 1.1 Articolo in rivista | 2012 | Manganelli, Fiore; Pisciotta, Chiara; Dubbioso, Raffaele; Maruotti, V; Iodice, Rosa; Notturno, F; Ruggiero, Lucia; Vitale, C; Nolano, M; Uncini, A; Santoro, Lucio; Nolano, Maria | |
| Mutilating fingertip ulcers in uncontrolled type 1 diabetes mellitus. | 1.1 Articolo in rivista | 2014 | Dubbioso, Raffaele; Nolano, Maria; Mazzarella, Raffaella; Rivellese, ANGELA ALBAROSA; Manganelli, Fiore | |
| Nine-year case history of monofocal motor neuropathy. | 1.1 Articolo in rivista | 2008 | Manganelli, Fiore; Pisciotta, Chiara; Iodice, Rosa; Calandro, Sara; Santoro, Lucio | |
| Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. | 1.1 Articolo in rivista | 2009 | Mandich, P; Fossa, P; Capponi, S; Geroldi, A; Acquaviva, M; Gulli, R; Ciotti, P; Manganelli, Fiore; Grandis, M; Bellone, E. | |
| Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. | 1.1 Articolo in rivista | 2011 | Santoro, Lucio; Breedveld, Gj; Manganelli, Fiore; Iodice, Rosa; Pisciotta, Chiara; Nolano, M; Punzo, F; Quarantelli, Mario; Pappatà, S; Di Fonzo, A; Oostra, Ba; Bonifati, V. | |
| A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. | 1.1 Articolo in rivista | 2012 | Manganelli, Fiore; Pisciotta, Chiara; Nolano, M; Capponi, S; Geroldi, A; Topa, A; Bellone, E; Suls, A; Mandich, P; Santoro, Lucio; Nolano, Maria | |
| Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease. | 1.1 Articolo in rivista | 2000 | Santoro, Lucio; A., Perretti; B., Lanzillo; G., Coppola; G. D., Joanna; Manganelli, Fiore; Cocozza, Sergio; DE MICHELE, Giuseppe; Filla, Alessandro; G., Caruso | |
| A second family with hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibres, detected in the same geographic area as the first family. | 1.1 Articolo in rivista | 1998 | Santoro, Lucio; Barbieri, Fabrizio; Crisci, C; Gasparo Rippa, P; Manganelli, Fiore | |
| Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population | 1.1 Articolo in rivista | 2014 | Manganelli, Fiore; Tozza, Stefano; Pisciotta, Chiara; Bellone, Emilia; Iodice, Rosa; Nolano, Maria; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, Lucio; Nolano, Maria | |
| Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease? | 1.1 Articolo in rivista | 2014 | Manganelli, Fiore; Dubbioso, Raffaele; Iodice, Rosa; Topa, Antonietta; Dardis, A; Russo, Cv; Ruggiero, Lucia; Tozza, S; Filla, Alessandro; Santoro, Lucio |