DOTTI, MARIA

DOTTI, MARIA  

Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze  

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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 case of dystonia with onset during pregnancy. 1-gen-2007 Buccoliero, R; Palmeri, Silvia; Malandrini, Alessandro; Dotti, Maria; Federico, Antonio -
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778. 1-gen-1998 Dotti, Maria; Plewnia, K; Cardaioli, Elena; Manneschi, L; Rufa, Alessandra; Alemà, G; Federico, Antonio -
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 1-gen-2007 Battisti, C; Forte, F; Molinelli, MASSIMO CLAUDIO; Funghini, S; Pasquini, E; Tassini, M; Dotti, Maria; Federico, Antonio -
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 1-gen-2005 Sperduto, A; Dotti, Maria; DE STEFANO, Nicola; De Santis, M; Bianchi, Silvia; Rufa, Alessandra; Frantellizzi, P; Federico, Antonio -
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 Leu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia 1-gen-2005 Cardaioli, E; DA POZZO, P; Radi, E; Dotti, Maria; 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 KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 1-gen-2008 Tessa, A; Silvestri, G; DE LEVA, Mf; Modoni, A; Denora, Ps; Masciullo, M; Dotti, Maria; Casali, C; Melone, Ma; Federico, Antonio; Filla, A; Santorelli, Fm -
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 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 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 Rett syndrome MECP2 mutation that causes mental retardation in men 1-gen-2002 Dotti, Maria; Orrico, A.; DE STEFANO, Nicola; Battisti, Carla; Sicurelli, F.; Severi, S.; Lam, C. W.; Galli, L.; Sorrentino, Vincenzo; 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 -
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 1-gen-2018 Taglia, I.; Di Donato, I.; Bianchi, S.; Cerase, A.; Monti, L.; Marconi, R.; Orrico, A.; Rufa, A.; Federico, A.; Dotti, M. T. -
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease. 1-gen-1999 Malandrini, Alessandro; Villanova, M; Dotti, Maria; Federico, Antonio -
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 1-gen-2004 Rufa, Alessandra; DE STEFANO, Nicola; Dotti, Maria; Bianchi, Silvia; Sicurelli, F; Stromillo, Ml; Daniello, B; Federico, Antonio -
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 1-gen-2008 Rufa, Alessandra; Cerase, A; Monti, L; Battisti, C; Forte, F; Federico, Antonio; Dotti, Maria -
Acute visual loss due to anterior ischemic optic neuropathy as first symptom in a patient with CADASIL 1-gen-2002 Rufa, Alessandra; Dotti, Maria; Bianchi, Silvia; DE STEFANO, Nicola; Federico, Antonio -
Adrenoleukodystrophy: a genetic, clinical, biochemical and computed tomographic study of four patients in three different families. 1-gen-1987 Dotti, Maria; Annunziata, Pasquale; D'Amore, I; Terrosi Vagnoli, P; Venturi, C; Federico, Antonio -