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, M. T.; Plewnia, K.; Cardaioli, E.; Manneschi, L.; Rufa, A.; Alemà, G.; Federico, A. -
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 1-gen-2013 Wieczorek, D; Bögershausen, N; Beleggia, F; Steiner Haldenstätt, S; Pohl, E; Li, Y; Milz, E; Martin, M; Thiele, H; Altmüller, J; Alanay, Y; Kayserili, H; Klein Hitpass, L; Böhringer, S; Wollstein, A; Albrecht, B; Boduroglu, K; Caliebe, A; Chrzanowska, K; Cogulu, O; Cristofoli, F; Czeschik, Jc; Devriendt, K; Dotti, Maria; Elcioglu, N; Gener, B; Goecke, To; Krajewska Walasek, M; Guillén Navarro, E; Hayek, J; Houge, G; Kilic, E; Simsek Kiper, Po; López González, V; Kuechler, A; Lyonnet, S; Mari, Francesca; Marozza, A; Mathieu Dramard, M; Mikat, B; Morin, G; Morice Picard, F; Ozkynay, F; Rauch, A; Renieri, Alessandra; Tinschert, S; Utine, Ge; Vilain, C; Vivarelli, R; Zweier, C; Nürnberg, P; Rahmann, S; Vermeesch, J; Lüdecke, Hj; Zeschnigk, M; Wollnik, B. -
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 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 CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 1-gen-2015 DI DONATO, Ilaria; Stabile, Carmen; Bianchi, Silvia; Taglia, Ilaria; Mignarri, Andrea; Salvatore, Simona; Giorgio, Elisa; Brusco, Alfredo; Simone, Isabella; Dotti, Maria; 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 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 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 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 pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient. 1-gen-2008 Pescini, F; Bianchi, Silvia; Salvadori, E; Poggesi, A; Dotti, Maria; Federico, Antonio; Inzitari, D; Pantoni, L. -
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 -