GALLUS, GIAN NICOLA
GALLUS, GIAN NICOLA
Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE
2010-01-01 Mignarri, Andrea; M., Falcini; Gallus, GIAN NICOLA; Giorgio, Antonio; Rufa, Alessandra; Ginanneschi, Federica; Federico, Antonio; Dotti, Maria
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy
2012-01-01 Cardaioli, Elena; Sicurelli, F; Carluccio, MARIA ALESSANDRA; Gallus, GIAN NICOLA; DA POZZO, Paola; Mondelli, M; Margollicci, Ma; Micheli, V; Federico, Antonio; Dotti, Maria
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss
2007-01-01 Cardaioli, Elena; DA POZZO, Paola; Gallus, GIAN NICOLA; Malandrini, Alessandro; Gambelli, S; Gaudiano, C; Malfatti, E; Viscomi, C; Zicari, E; Berti, Gianna; Serni, Giovanni; Dotti, Maria; Federico, Antonio
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
2009-01-01 DA POZZO, P; Cardaioli, E; Malfatti, E; Gallus, GIAN NICOLA; Malandrini, Alessandro; Gaudiano, C; Berti, G; Invernizzi, F; Zeviani, M; Federico, Antonio
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy.
2006-01-01 Cardaioli, E; Gallus, GIAN NICOLA; DA POZZO, P; Rufa, Alessandra; Franceschini, Rossella; Motolese, Eduardo; Caporossi, A; Dotti, Maria; Federico, Antonio
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy
2005-01-01 Federico, Antonio; Cardaioli, Elena; Gallus, GIAN NICOLA; Malfatti, Edoardo; DA POZZO, Paola; Franceschini, Rossella; Caporossi, Aldo; Dotti, Maria
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype.
2006-01-01 Rufa, Alessandra; Cardaioli, E; Gallus, GIAN NICOLA; Da Pozzo, P; Frezzotti, P; Dotti, Maria; Renieri, Alessandra; Longo, I; Federico, Antonio
A second MNGIE patient without typical mitochondrial skeletal muscle involvement
2010-01-01 Cardaioli, E.; DA POZZO, P.; Malfatti, E.; Battisti, C.; Gallus, G. N.; Gaudiano, C.; Macucci, M.; Malandrini, A.; Margollicci, M.; Rubegni, A.; Dotti, M. T.; Federico, A.
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.
2014-01-01 Mignarri, Andrea; Gallus, GIAN NICOLA; Dotti, Maria; Federico, Antonio
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy
2010-01-01 Gallus, G. N.; Cardaioli, Elena; Rufa, Alessandra; Da Pozzo, Paola; Bianchi, Silvia; D'Eramo, Camilla; Collura, M.; Tumino, M; Pavone, L.; Federico, Antonio
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA
2008-01-01 Gallus, G. N.; Cardaioli, E.; Da Pozzo, P.; Bianchi, S.; D'Eramo, C.; Rufa, A.; Tumino, M.; Pavone, L.; Federico, A.
Alu-element insertion in the OPA1 intron sequence associated with ADOA.
2007-01-01 Gallus, GIAN NICOLA; Cardaioli, Elena; DA POZZO, Paola; Bianchi, Silvia; D'Eramo, Camilla; Rufa, Alessandra; M., Tumino; L., Pavone; Federico, Antonio; Spain, August
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene
2015-01-01 Formichi, Patrizia; Radi, Elena; Giorgi, Eleonora; Gallus, GIAN NICOLA; Brunetti, Jlenia; Battisti, Carla; Rufa, Alessandra; Dotti, Maria; Franceschini, Rossella; Bracci, Luisa; Federico, Antonio
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report
2015-01-01 Ragno, Michele; Di Marzio, Fabio; Fuccio, Chiara; Pianese, Luigi; Cozzolino, Valeria; Carboni, Terenzio; Cinti, Antonio; D'Andreamatteo, Giordano; Trojano, Luigi; Mignarri, Andrea; Gallus, GIAN NICOLA; Dotti, Maria
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up
2012-01-01 Mignarri, Andrea; Dotti, Maria; Del Puppo, Marina; Gallus, Gian Nicola; Giorgio, Antonio; Cerase, Alfonso; Monti, Lucia
Cerebrotendinous Xanthomatosis.
2003-01-01 Federico, Antonio; Dotti, Maria; Gallus, GIAN NICOLA
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
2014-01-01 Mandrile, G; Gallus, GIAN NICOLA; Mura, G; Di Sapio, A; Sotgiu, Ma; Montella, A; Giachino, Df; Dotti, Maria; Ulgheri, L; Federico, Antonio
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
2006-01-01 Gallus, G. N.; Dotti, M.; Federico, A.
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis
2011-01-01 Mignarri, A.; Rossi, S.; Ballerini, M.; Gallus, G. N.; Del Puppo, M.; Galluzzi, P.; Federico, A.; Dotti, M. T.
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis
2015-01-01 Mignarri, Andrea; Magni, Alessandro; Del Puppo, Marina; Gallus, GIAN NICOLA; Björkhem, Ingemar; Federico, Antonio; Dotti, Maria
Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
---|---|---|---|---|
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE | 1-gen-2010 | Mignarri, Andrea; M., Falcini; Gallus, GIAN NICOLA; Giorgio, Antonio; Rufa, Alessandra; Ginanneschi, Federica; Federico, Antonio; Dotti, Maria | - | |
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy | 1-gen-2012 | Cardaioli, Elena; Sicurelli, F; Carluccio, MARIA ALESSANDRA; Gallus, GIAN NICOLA; DA POZZO, Paola; Mondelli, M; Margollicci, Ma; Micheli, V; Federico, Antonio; Dotti, Maria | - | |
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss | 1-gen-2007 | Cardaioli, Elena; DA POZZO, Paola; Gallus, GIAN NICOLA; Malandrini, Alessandro; Gambelli, S; Gaudiano, C; Malfatti, E; Viscomi, C; Zicari, E; Berti, Gianna; Serni, Giovanni; Dotti, Maria; Federico, Antonio | - | |
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. | 1-gen-2009 | DA POZZO, P; Cardaioli, E; Malfatti, E; Gallus, GIAN NICOLA; Malandrini, Alessandro; Gaudiano, C; Berti, G; Invernizzi, F; Zeviani, M; Federico, Antonio | - | |
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. | 1-gen-2006 | Cardaioli, E; Gallus, GIAN NICOLA; DA POZZO, P; Rufa, Alessandra; Franceschini, Rossella; Motolese, Eduardo; Caporossi, A; Dotti, Maria; Federico, Antonio | - | |
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy | 1-gen-2005 | Federico, Antonio; Cardaioli, Elena; Gallus, GIAN NICOLA; Malfatti, Edoardo; DA POZZO, Paola; Franceschini, Rossella; Caporossi, Aldo; Dotti, Maria | - | |
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. | 1-gen-2006 | Rufa, Alessandra; Cardaioli, E; Gallus, GIAN NICOLA; Da Pozzo, P; Frezzotti, P; Dotti, Maria; Renieri, Alessandra; Longo, I; Federico, Antonio | - | |
A second MNGIE patient without typical mitochondrial skeletal muscle involvement | 1-gen-2010 | Cardaioli, E.; DA POZZO, P.; Malfatti, E.; Battisti, C.; Gallus, G. N.; Gaudiano, C.; Macucci, M.; Malandrini, A.; Margollicci, M.; Rubegni, A.; Dotti, M. T.; Federico, A. | - | |
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. | 1-gen-2014 | Mignarri, Andrea; Gallus, GIAN NICOLA; Dotti, Maria; Federico, Antonio | - | |
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy | 1-gen-2010 | Gallus, G. N.; Cardaioli, Elena; Rufa, Alessandra; Da Pozzo, Paola; Bianchi, Silvia; D'Eramo, Camilla; Collura, M.; Tumino, M; Pavone, L.; Federico, Antonio | - | |
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA | 1-gen-2008 | Gallus, G. N.; Cardaioli, E.; Da Pozzo, P.; Bianchi, S.; D'Eramo, C.; Rufa, A.; Tumino, M.; Pavone, L.; Federico, A. | - | |
Alu-element insertion in the OPA1 intron sequence associated with ADOA. | 1-gen-2007 | Gallus, GIAN NICOLA; Cardaioli, Elena; DA POZZO, Paola; Bianchi, Silvia; D'Eramo, Camilla; Rufa, Alessandra; M., Tumino; L., Pavone; Federico, Antonio; Spain, August | - | |
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene | 1-gen-2015 | Formichi, Patrizia; Radi, Elena; Giorgi, Eleonora; Gallus, GIAN NICOLA; Brunetti, Jlenia; Battisti, Carla; Rufa, Alessandra; Dotti, Maria; Franceschini, Rossella; Bracci, Luisa; Federico, Antonio | - | |
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report | 1-gen-2015 | Ragno, Michele; Di Marzio, Fabio; Fuccio, Chiara; Pianese, Luigi; Cozzolino, Valeria; Carboni, Terenzio; Cinti, Antonio; D'Andreamatteo, Giordano; Trojano, Luigi; Mignarri, Andrea; Gallus, GIAN NICOLA; Dotti, Maria | - | |
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up | 1-gen-2012 | Mignarri, Andrea; Dotti, Maria; Del Puppo, Marina; Gallus, Gian Nicola; Giorgio, Antonio; Cerase, Alfonso; Monti, Lucia | - | |
Cerebrotendinous Xanthomatosis. | 1-gen-2003 | Federico, Antonio; Dotti, Maria; Gallus, GIAN NICOLA | - | |
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. | 1-gen-2014 | Mandrile, G; Gallus, GIAN NICOLA; Mura, G; Di Sapio, A; Sotgiu, Ma; Montella, A; Giachino, Df; Dotti, Maria; Ulgheri, L; Federico, Antonio | - | |
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene | 1-gen-2006 | Gallus, G. N.; Dotti, M.; Federico, A. | - | |
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis | 1-gen-2011 | Mignarri, A.; Rossi, S.; Ballerini, M.; Gallus, G. N.; Del Puppo, M.; Galluzzi, P.; Federico, A.; Dotti, M. T. | - | |
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis | 1-gen-2015 | Mignarri, Andrea; Magni, Alessandro; Del Puppo, Marina; Gallus, GIAN NICOLA; Björkhem, Ingemar; Federico, Antonio; Dotti, Maria | - |