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, Silvia; Malandrini, Alessandro; Dotti, Maria; Federico, Antonio
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, Maria; DE STEFANO, Nicola; Bianchi, S.; Malandrini, Alessandro; Battisti, C.; Cardaioli, E.; Federico, Antonio
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, Alessandro; Piemonte, F; Patrono, C; Villanova, M; Tessa, A; Palmeri, Silvia; 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, GIAN NICOLA; Gaudiano, C; Macucci, M; Malandrini, Alessandro; Margollicci, M; Rubegni, A; Dotti, Maria; Federico, Antonio
A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers.
1997-01-01 Malandrini, Alessandro; Palmeri, Silvia; 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, Alessandro; Luchini, D.; Gambelli, S.; Gaudiano, C.; Berti, Gianna; Salvadori, Claudio; Serni, Giovanni; Valassina, M.; Federico, Antonio; 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, Alessandro; Cesaretti, S; Mulinari, M; Palmeri, Silvia; Fabrizi, Gm; Villanova, M; Parrotta, E; Montagnani, A; Montagnani, M; Anichini, M; Guazzi,
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease.
1999-01-01 Malandrini, Alessandro; Villanova, M; Dotti, Maria; Federico, Antonio
Acute shoulder–girdle neuralgic amyotrophy (parsonage-turner syndrome) with saphenous nerve involvement.
2011-01-01 Ginanneschi, Federica; Malandrini, Alessandro; Monti, Lucia; Rossi, Alessandro
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder
1988-01-01 Federico, Antonio; Dotti, Maria; Annunziata, Pasquale; Bonuccelli, U; Fenzi, G; Ciacci, G; Malandrini, Alessandro; Meucci, G; Guazzi, Gc
| 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, Silvia; Malandrini, Alessandro; Dotti, Maria; Federico, Antonio | - | |
| 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, Maria; DE STEFANO, Nicola; Bianchi, S.; Malandrini, Alessandro; Battisti, C.; Cardaioli, E.; Federico, Antonio | - | |
| 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, Alessandro; Piemonte, F; Patrono, C; Villanova, M; Tessa, A; Palmeri, Silvia; 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, GIAN NICOLA; Gaudiano, C; Macucci, M; Malandrini, Alessandro; Margollicci, M; Rubegni, A; Dotti, Maria; Federico, Antonio | - | |
| A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers. | 1-gen-1997 | Malandrini, Alessandro; Palmeri, Silvia; 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, Alessandro; Luchini, D.; Gambelli, S.; Gaudiano, C.; Berti, Gianna; Salvadori, Claudio; Serni, Giovanni; Valassina, M.; Federico, Antonio; 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, Alessandro; Cesaretti, S; Mulinari, M; Palmeri, Silvia; Fabrizi, Gm; Villanova, M; Parrotta, E; Montagnani, A; Montagnani, M; Anichini, M; Guazzi, | - | |
| Acute inflammatory neuropathy in Charcot-Marie-Tooth disease. | 1-gen-1999 | Malandrini, Alessandro; Villanova, M; Dotti, Maria; Federico, Antonio | - | |
| Acute shoulder–girdle neuralgic amyotrophy (parsonage-turner syndrome) with saphenous nerve involvement. | 1-gen-2011 | Ginanneschi, Federica; Malandrini, Alessandro; Monti, Lucia; Rossi, Alessandro | - | |
| Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder | 1-gen-1988 | Federico, Antonio; Dotti, Maria; Annunziata, Pasquale; Bonuccelli, U; Fenzi, G; Ciacci, G; Malandrini, Alessandro; Meucci, G; Guazzi, Gc | - |