CASALI, Carlo
CASALI, Carlo
DIPARTIMENTO DI SCIENZE E BIOTECNOLOGIE MEDICO-CHIRURGICHE
'When atlastin meets spastin'
2014 DI FABIO, Roberto; A., Tessa; Marcotulli, Christian; Pierelli, Francesco; Filippo Maria, Santorelli; Casali, Carlo; Leonardi, Luca
[Familial amyloid polyneuropathy. Description of 2 cases treated with dimethylsulfoxide].
1984 Sabatelli, M; Casali, Carlo; Scoppetta, C; Frustaci, A; Tonali, P.
[Inflammatory neuropathies].
1988 Rizzo, Pa; Casali, Carlo; D'Agostini, S; Peppe, A; Sanarelli, L; Scoppetta, C.
[Miller Fisher syndrome: review of the literature and presentation of 2 cases].
1991 Scoppetta, C; Fontana, M; Quadrini, R; La Cesa, I; Di Lello, R; Peppe, A; Tolli, Vs; Casali, Carlo
[Mitochondrial diseases].
1999 D'Amati, Giulia; Casali, Carlo; Giordano, Carla
[Nuclear magnetic resonance: a comfortable diagnosis].
1990 Quadrini, R; La Cesa, I; Scarongella, P; De Angelis, D; Casali, Carlo
A clinical and epidemiological prevalence study on Friedreich’s Ataxia in Latium, Italy
2022 Romano, Silvia; Bacigalupo, Ilaria; Marcotulli, C.; Cioffi, Ettore; Silvio Bertini, Enrico; Vasco, Gessica; Perna, Alessia; Petrucci, Antonio; Massa, Roberto; Frezza, Erica; Romano, Carmela; Salvetti, Marco; Ristori, Giovanni; Silvestri, Gabriella; Vanacore, Nicola; Casali, C.
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy
2003 Robert W., Taylor; Giordano, Carla; Mercy M., Davidson; D'Amati, Giulia; Hugh, Bain; Christine M., Hayes; Leonard H., Barron Mj; Casali, Carlo; Filippo M., Santorelli; Michio, Hirano; Robert N., Lightowlers; Salvatore, Dimauro; Douglass M., Turnbull
A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome
2012 Stella, Gagliardi; Annalisa, Davin; Ivana, Ricca; Gaetano S., Grieco; Roberta, Zangaglia; Pierelli, Francesco; Andrea, Ghiroldi; Claudio, Pacchetti; Casali, Carlo; Cristina, Cereda
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
2021 Riso, V.; Galatolo, D.; Barghigiani, M.; Galosi, S.; Tessa, A.; Ricca, I.; Rossi, S.; Caputi, C.; Cioffi, E.; Leuzzi, V.; Casali, C.; Santorelli, F. M.; Silvestri, G.
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy
2008 A., Tessa; G., Silvestri; M. F., De Leva; A., Modoni; P. S., Denora; M., Masciullo; M. T., Dotti; Casali, Carlo; Federico A., Melone Ma; A., Filla; F. M., Santorelli
A novel mtDNA point mutation in maternally inherited cardiomyopathy.
1995 Casali, Carlo; Santorelli, Fm; D'Amati, Giulia; Bernucci, P; DE BIASE, Luciano; Dimauro, S.
A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias. A pilot open-labeled study
2017 Leonardi, Luca; Aceto, Maria Gabriella; Marcotulli, Christian; Arcuria, Giuseppe; Serrao, Mariano; Pierelli, Francesco; Paone, Paolo; Filla, Alessandro; Roca, Alessandro; Casali, Carlo
Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients
2004 Ferri, A; Nencini, M; Battistini, S; Giannini, F; Siciliano, G; Casali, Carlo; Damiano, Mg; Ceroni, M; Chio, A; Rotilio, G; Carri, Mt
Acute optic neuropathy associated with a novel MFN2 mutation
2015 Leonardi, Luca; Marcotulli, Christian; Storti, Eugenia; Tessa, Alessandra; Serrao, Mariano; Parisi, Vincenzo; Santorelli, F. M.; Pierelli, Francesco; Casali, Carlo
Advances in the genetics of spinocerebellar ataxias
2001 Casali, Carlo
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
2011 J., Halter; W. M. M., Schupbach; Casali, Carlo; R., Elhasid; K., Fay; S., Hammans; I., Illa; L., Kappeler; S., Krahenbuhl; T., Lehmann; H., Mandel; R., Marti; H., Mattle; K., Orchard; D., Savage; C. M., Sue; D., Valcarcel; A., Gratwohl; M., Hirano
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
2006 Hirano, M; Marti, R; Casali, Carlo; Tadesse, S; Uldrick, T; Fine, B; Escolar, Dm; Valentino, Ml; Nishino, I; Hesdorffer, C; Schwartz, J; Hawks, Rg; Martone, Dl; Cairo, Ms; Dimauro, S; Stanzani, M; GARVIN JH, Jr; Savage, Dg
An age standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy
2016 Vanacore, Nicola; Rastelli, Emanuele; Antonini, Giovanni; Bianchi, Maria Laura Ester; Botta, Annalisa; Bucci, Elisabetta; Casali, Carlo; Costanzi Porrini, Sandro; Giacanelli, Manlio; Gibellini, Manuela; Modoni, Anna; Novelli, Giuseppe; Pennisi, Elena Maria; Petrucci, Antonio; Piantadosi, Carlo; Silvestri, Gabriella; Terracciano, Chiara; Massa, Roberto
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
2008 Terracciano, A; Casali, Carlo; Grieco, Gs; Orteschi, D; DI GIANDOMENICO, S; Seminara, L; DI FABIO, R; Carrozzo, R; Simonati, A; Stevanin, G; Zollino, M; Santorelli, Fm
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 'When atlastin meets spastin' | 2014 | DI FABIO, Roberto; A., Tessa; Marcotulli, Christian; Pierelli, Francesco; Filippo Maria, Santorelli; Casali, Carlo; Leonardi, Luca | |
| [Familial amyloid polyneuropathy. Description of 2 cases treated with dimethylsulfoxide]. | 1984 | Sabatelli, M; Casali, Carlo; Scoppetta, C; Frustaci, A; Tonali, P. | |
| [Inflammatory neuropathies]. | 1988 | Rizzo, Pa; Casali, Carlo; D'Agostini, S; Peppe, A; Sanarelli, L; Scoppetta, C. | |
| [Miller Fisher syndrome: review of the literature and presentation of 2 cases]. | 1991 | Scoppetta, C; Fontana, M; Quadrini, R; La Cesa, I; Di Lello, R; Peppe, A; Tolli, Vs; Casali, Carlo | |
| [Mitochondrial diseases]. | 1999 | D'Amati, Giulia; Casali, Carlo; Giordano, Carla | |
| [Nuclear magnetic resonance: a comfortable diagnosis]. | 1990 | Quadrini, R; La Cesa, I; Scarongella, P; De Angelis, D; Casali, Carlo | |
| A clinical and epidemiological prevalence study on Friedreich’s Ataxia in Latium, Italy | 2022 | Romano, Silvia; Bacigalupo, Ilaria; Marcotulli, C.; Cioffi, Ettore; Silvio Bertini, Enrico; Vasco, Gessica; Perna, Alessia; Petrucci, Antonio; Massa, Roberto; Frezza, Erica; Romano, Carmela; Salvetti, Marco; Ristori, Giovanni; Silvestri, Gabriella; Vanacore, Nicola; Casali, C. | |
| A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy | 2003 | Robert W., Taylor; Giordano, Carla; Mercy M., Davidson; D'Amati, Giulia; Hugh, Bain; Christine M., Hayes; Leonard H., Barron Mj; Casali, Carlo; Filippo M., Santorelli; Michio, Hirano; Robert N., Lightowlers; Salvatore, Dimauro; Douglass M., Turnbull | |
| A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome | 2012 | Stella, Gagliardi; Annalisa, Davin; Ivana, Ricca; Gaetano S., Grieco; Roberta, Zangaglia; Pierelli, Francesco; Andrea, Ghiroldi; Claudio, Pacchetti; Casali, Carlo; Cristina, Cereda | |
| A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 | 2021 | Riso, V.; Galatolo, D.; Barghigiani, M.; Galosi, S.; Tessa, A.; Ricca, I.; Rossi, S.; Caputi, C.; Cioffi, E.; Leuzzi, V.; Casali, C.; Santorelli, F. M.; Silvestri, G. | |
| A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy | 2008 | A., Tessa; G., Silvestri; M. F., De Leva; A., Modoni; P. S., Denora; M., Masciullo; M. T., Dotti; Casali, Carlo; Federico A., Melone Ma; A., Filla; F. M., Santorelli | |
| A novel mtDNA point mutation in maternally inherited cardiomyopathy. | 1995 | Casali, Carlo; Santorelli, Fm; D'Amati, Giulia; Bernucci, P; DE BIASE, Luciano; Dimauro, S. | |
| A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias. A pilot open-labeled study | 2017 | Leonardi, Luca; Aceto, Maria Gabriella; Marcotulli, Christian; Arcuria, Giuseppe; Serrao, Mariano; Pierelli, Francesco; Paone, Paolo; Filla, Alessandro; Roca, Alessandro; Casali, Carlo | |
| Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients | 2004 | Ferri, A; Nencini, M; Battistini, S; Giannini, F; Siciliano, G; Casali, Carlo; Damiano, Mg; Ceroni, M; Chio, A; Rotilio, G; Carri, Mt | |
| Acute optic neuropathy associated with a novel MFN2 mutation | 2015 | Leonardi, Luca; Marcotulli, Christian; Storti, Eugenia; Tessa, Alessandra; Serrao, Mariano; Parisi, Vincenzo; Santorelli, F. M.; Pierelli, Francesco; Casali, Carlo | |
| Advances in the genetics of spinocerebellar ataxias | 2001 | Casali, Carlo | |
| Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach | 2011 | J., Halter; W. M. M., Schupbach; Casali, Carlo; R., Elhasid; K., Fay; S., Hammans; I., Illa; L., Kappeler; S., Krahenbuhl; T., Lehmann; H., Mandel; R., Marti; H., Mattle; K., Orchard; D., Savage; C. M., Sue; D., Valcarcel; A., Gratwohl; M., Hirano | |
| Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. | 2006 | Hirano, M; Marti, R; Casali, Carlo; Tadesse, S; Uldrick, T; Fine, B; Escolar, Dm; Valentino, Ml; Nishino, I; Hesdorffer, C; Schwartz, J; Hawks, Rg; Martone, Dl; Cairo, Ms; Dimauro, S; Stanzani, M; GARVIN JH, Jr; Savage, Dg | |
| An age standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy | 2016 | Vanacore, Nicola; Rastelli, Emanuele; Antonini, Giovanni; Bianchi, Maria Laura Ester; Botta, Annalisa; Bucci, Elisabetta; Casali, Carlo; Costanzi Porrini, Sandro; Giacanelli, Manlio; Gibellini, Manuela; Modoni, Anna; Novelli, Giuseppe; Pennisi, Elena Maria; Petrucci, Antonio; Piantadosi, Carlo; Silvestri, Gabriella; Terracciano, Chiara; Massa, Roberto | |
| An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss. | 2008 | Terracciano, A; Casali, Carlo; Grieco, Gs; Orteschi, D; DI GIANDOMENICO, S; Seminara, L; DI FABIO, R; Carrozzo, R; Simonati, A; Stevanin, G; Zollino, M; Santorelli, Fm |