MALANDRINI, ALESSANDRO

MALANDRINI, ALESSANDRO  

Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze  

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Titolo Data di pubblicazione Autore(i) File Abstract
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 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 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. -
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 -
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports 1-gen-2020 Dosi, C.; Rubegni, A.; Cassandrini, D.; Malandrini, A.; Maggi, L.; Donati, M. A.; Santorelli, F. M. -
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study. 1-gen-1995 Palmeri, Silvia; Battisti, Carla; Malandrini, Alessandro; Federico, Antonio -
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia. 1-gen-2004 Gambelli, S; Ginanneschi, Federica; Malandrini, Alessandro; Palmeri, Silvia; Berti, Gianna; Desiderio, P; Bellussi, LUISA MARIA; Maria, Pf; Rossi, Alessandro -
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study. 1-gen-1998 Federico, Antonio; Dotti, Maria; Cardaioli, Elena; Grieco, G; Malandrini, Alessandro; Manneschi, L; Plewnia, K; Rufa, Alessandra; Renieri, Alessandra; Bruttini, M; Perticoni, Gf -