MALANDRINI, ALESSANDRO
MALANDRINI, ALESSANDRO
Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.
2014-01-01 Rubegni, A; Cardaioli, Elena; Chini, Elena; DA POZZO, Paola; Battisti, Carla; Malandrini, Alessandro; Federico, Antonio
A case of dystonia with onset during pregnancy
2007-01-01 Buccoliero, R.; Palmeri, S.; Malandrini, A.; Dotti, M. T.; Federico, A.
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis
2022-01-01 Lopergolo, D.; Berti, G.; Mari, F.; Bertini, E.; Rufa, A.; Battisti, C.; Sicurelli, F.; Renieri, A.; Federico, A.; Sandhoff, K.; Malandrini, A.
A case report of FAVA syndrome in a young woman carrying a mutation in the PIK3CA gene
2023-01-01 Costagliola, Antonella; Arcuri, Felice; Pelliccioni, Pietro; Malandrini, Alessandro; De Stefano, Nicola; Battisti, Carla
A case report of transient posterior internuclear ophthalmoplegia (PINO) associated with encephalitis of ponto-mesencephalic junction
2007-01-01 Buccoliero, R; Rufa, Alessandra; A., Cerase; L., Monti; Malandrini, Alessandro; Federico, Antonio
A conserved sorting-associated protein Is mutant in chorea-acanthocytosis
2001-01-01 Rampoldi, L; Dobsonstone, C; Danek, A; Chalmers, Rm; Wood, Nw; Verellen, C; Ferrer, X; Malandrini, Alessandro; Fabrizi, Gm; Brown, R; Vance, J; Pericakvance, M; Rudolf, G; Carre, S; Alonso, E; Manfredi, M; Nemeth, Ah; Monaco, Ap
A new missense mutation in caveolin-3 gene causes rippling muscle disease.
2006-01-01 Dotti, Maria; Malandrini, Alessandro; Gambelli, Simona; Salvadori, Claudio; DE STEFANO, Nicola; Federico, Antonio
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 homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
2015-01-01 Baranello, Giovanni; Saredi, Simona; Sansanelli, Serena; Savadori, Paolo; Canioni, Eleonora; Chiapparini, Luisa; Balestri, Paolo; Malandrini, Alessandro; Arnoldi, Maria Teresa; Pantaleoni, Chiara; Morandi, Lucia; Mora, Marina
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 NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL
2004-01-01 Dotti, M. T.; DE STEFANO, N.; Bianchi, S.; Malandrini, A.; Battisti, C.; Cardaioli, E.; Federico, A.
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features
2010-01-01 Malfatti, E.; Cardaioli, E.; Battisti, C.; Da Pozzo, P.; Malandrini, Alessandro; Rufa, Alessandra; Rocchi, Raffaele; Federico, Antonio
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome C oxidase deficiency
2000-01-01 Santoro, L.; Carrozzo, R.; Malandrini, A.; Piemonte, F.; Patrono, C.; Villanova, M.; Tessa, A.; Palmeri, S.; Bertini, E.; Santorelli, F. M.
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case
1997-01-01 Plewnia, K; Dotti, Maria; Malandrini, Alessandro; Manneschi, L; Battisti, Carla; DE STEFANO, Nicola; Rufa, Alessandra; Motolese, Eduardo; 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 syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers
1997-01-01 Malandrini, A.; Palmeri, S.; Villanova, M.; Parrotta, E.; Sicurelli, F.; Amato, D.; Defalco, D.; Guazzi, G. C.
A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course
2004-01-01 Malandrini, A.; Luchini, D.; Gambelli, S.; Gaudiano, C.; Berti, G.; Salvadori, C.; Serni, G.; Valassina, M.; Federico, A.; DI PAOLO, M.
Acanthocytes in pantothenate kinase associated neurodegeneration
2005-01-01 Klopstock, T.; Elstner, M.; Malandrini, A.
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities
1996-01-01 Malandrini, A.; Cesaretti, S.; Mulinari, M.; Palmeri, S.; Fabrizi, G. M.; Villanova, M.; Parrotta, E.; Montagnani, A.; Montagnani, M.; Anichini, M.; Guazzi, G. C.
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease
1999-01-01 Malandrini, A.; Villanova, M.; Dotti, M. T.; Federico, A.
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. | 1-gen-2014 | Rubegni, A; Cardaioli, Elena; Chini, Elena; DA POZZO, Paola; Battisti, Carla; Malandrini, Alessandro; Federico, Antonio | - | |
| A case of dystonia with onset during pregnancy | 1-gen-2007 | Buccoliero, R.; Palmeri, S.; Malandrini, A.; Dotti, M. T.; Federico, A. | - | |
| A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis | 1-gen-2022 | Lopergolo, D.; Berti, G.; Mari, F.; Bertini, E.; Rufa, A.; Battisti, C.; Sicurelli, F.; Renieri, A.; Federico, A.; Sandhoff, K.; Malandrini, A. | - | |
| A case report of FAVA syndrome in a young woman carrying a mutation in the PIK3CA gene | 1-gen-2023 | Costagliola, Antonella; Arcuri, Felice; Pelliccioni, Pietro; Malandrini, Alessandro; De Stefano, Nicola; Battisti, Carla | - | |
| A case report of transient posterior internuclear ophthalmoplegia (PINO) associated with encephalitis of ponto-mesencephalic junction | 1-gen-2007 | Buccoliero, R; Rufa, Alessandra; A., Cerase; L., Monti; Malandrini, Alessandro; Federico, Antonio | - | |
| A conserved sorting-associated protein Is mutant in chorea-acanthocytosis | 1-gen-2001 | Rampoldi, L; Dobsonstone, C; Danek, A; Chalmers, Rm; Wood, Nw; Verellen, C; Ferrer, X; Malandrini, Alessandro; Fabrizi, Gm; Brown, R; Vance, J; Pericakvance, M; Rudolf, G; Carre, S; Alonso, E; Manfredi, M; Nemeth, Ah; Monaco, Ap | - | |
| A new missense mutation in caveolin-3 gene causes rippling muscle disease. | 1-gen-2006 | Dotti, Maria; Malandrini, Alessandro; Gambelli, Simona; Salvadori, Claudio; DE STEFANO, Nicola; Federico, Antonio | - | |
| 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 homozygous ISPD gene mutation causing phenotype variability in a consanguineous family | 1-gen-2015 | Baranello, Giovanni; Saredi, Simona; Sansanelli, Serena; Savadori, Paolo; Canioni, Eleonora; Chiapparini, Luisa; Balestri, Paolo; Malandrini, Alessandro; Arnoldi, Maria Teresa; Pantaleoni, Chiara; Morandi, Lucia; Mora, Marina | - | |
| 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 NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL | 1-gen-2004 | Dotti, M. T.; DE STEFANO, N.; Bianchi, S.; Malandrini, A.; Battisti, C.; Cardaioli, E.; Federico, A. | - | |
| A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features | 1-gen-2010 | Malfatti, E.; Cardaioli, E.; Battisti, C.; Da Pozzo, P.; Malandrini, Alessandro; Rufa, Alessandra; Rocchi, Raffaele; Federico, Antonio | - | |
| A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome C oxidase deficiency | 1-gen-2000 | Santoro, L.; Carrozzo, R.; Malandrini, A.; Piemonte, F.; Patrono, C.; Villanova, M.; Tessa, A.; Palmeri, S.; Bertini, E.; Santorelli, F. M. | - | |
| A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case | 1-gen-1997 | Plewnia, K; Dotti, Maria; Malandrini, Alessandro; Manneschi, L; Battisti, Carla; DE STEFANO, Nicola; Rufa, Alessandra; Motolese, Eduardo; 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 syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers | 1-gen-1997 | Malandrini, A.; Palmeri, S.; Villanova, M.; Parrotta, E.; Sicurelli, F.; Amato, D.; Defalco, D.; Guazzi, G. C. | - | |
| A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course | 1-gen-2004 | Malandrini, A.; Luchini, D.; Gambelli, S.; Gaudiano, C.; Berti, G.; Salvadori, C.; Serni, G.; Valassina, M.; Federico, A.; DI PAOLO, M. | - | |
| Acanthocytes in pantothenate kinase associated neurodegeneration | 1-gen-2005 | Klopstock, T.; Elstner, M.; Malandrini, A. | - | |
| Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities | 1-gen-1996 | Malandrini, A.; Cesaretti, S.; Mulinari, M.; Palmeri, S.; Fabrizi, G. M.; Villanova, M.; Parrotta, E.; Montagnani, A.; Montagnani, M.; Anichini, M.; Guazzi, G. C. | - | |
| Acute inflammatory neuropathy in Charcot-Marie-Tooth disease | 1-gen-1999 | Malandrini, A.; Villanova, M.; Dotti, M. T.; Federico, A. | - |