Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families von Pretegiani, E., Rosini, F., Rufa, A., Gallus, G.N., Cardaioli, E., Da Pozzo, P., Bianchi, S., Serchi, V., Collura, M., Franceschini, R., Bianchi Marzoli, S., Dotti, M.T., Federico, A.

Volltext

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up von Sicurelli, F., Carluccio, M. A., Toraldo, F., Tozzi, M., Bucalossi, A., Lenoci, M., Jacomelli, G., Micheli, V., Cardaioli, E., Mondelli, M., Federico, A., Marotta, G., Dotti, M. T.

Volltext

Four novel CYP27A1 mutations in seven Italian patients with CTX von Gallus, G. N., Dotti, M. T., Mignarri, A., Rufa, A., Da Pozzo, P., Cardaioli, E., Federico, A.

Volltext

High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy von Gallus, GN, Cardaioli, E, Rufa, A, Collura, M, Da Pozzo, P, Pretegiani, E, Tumino, M, Pavone, L, Federico, A

Volltext

THE FIRST CEREBROTENDINOUS XANTHOMATOSIS FAMILY FROM ARGENTINA : A NEW MUTATION IN CYP27A1 GENE von SZLAGO, M, GALLUS, G. N, SCHENONE, A, PATINO, M. E, SFAELO, Z, RUFA, A, DA POZZO, P, CARDAIOLI, E, DOTTI, M. T, FEDERICO, A

Volltext

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA von Cardaioli, E, Da Pozzo, P, Malfatti, E, Gallus, G N, Rubegni, A, Malandrini, A, Gaudiano, C, Guidi, L, Serni, G, Berti, G, Dotti, M T, Federico, A

Volltext

Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA von Cardaioli, E, Da Pozzo, P, Malfatti, E, Gallus, G.N, Rubegni, A, Malandrini, A, Gaudiano, C, Guidi, L, Serni, G, Berti, G, Dotti, M.T, Federico, A

Volltext

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy von Cardaioli, Elena, Gallus, Gian Nicola, Da Pozzo, Paola, Rufa, Alessandra, Franceschini, Rossella, Motolese, Eduardo, Caporossi, Aldo, Dotti, Maria T, Federico, Antonio

Volltext

Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNA Leu(CUN) mutation of mitochondrial DNA von Cardaioli, E., Da Pozzo, P., Malfatti, E., Gallus, G.N., Rubegni, A., Malandrini, A., Gaudiano, C., Guidi, L., Serni, G., Berti, G., Dotti, M.T., Federico, A.

Volltext

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation von Pretegiani, Elena, Rufa, Alessandra, Gallus, Gian Nicola, Cardaioli, Elena, Malandrini, Alessandro, Federico, Antonio

Volltext

Mitochondrial Abnormalities in Genetically Assessed Oculopharyngeal Muscular Dystrophy von Gambelli, S., Malandrini, A., Ginanneschi, F., Berti, G., Cardaioli, E., De Stefano, R., Franci, M., Salvadori, C., Mari, F., Bruttini, M., Rossi, A., Federico, A., Renieri, A.

Volltext

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family von CASALI, C, FABRIZI, G. M, DIGENNARO, M. G. C, FORTINI, M. D, SPADARO, M, MOROCUTTI, C, FEDERICO, A, SANTORELLI, F. M, COLAZZA, G, VILLANOVA, M, DOTTI, M. T, CAVALLARO, T, CARDAIOLI, M. E, BATTISTI, P. C, MANNESCHI, L

Volltext

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy von Gallus, Gian Nicola, Cardaioli, Elena, Rufa, Alessandra, Da Pozzo, Paola, Bianchi, Silvia, D'Eramo, Camilla, Collura, Michele, Tumino, Manuela, Pavone, Lorenzo, Federico, Antonio

Volltext

A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 von Dotti, M T, Plewnia, K, Cardaioli, E, Manneschi, L, Rufa, A, Alemà, G, Federico, A

Volltext

Cell response to oxidative stress induced apoptosis in patients with Leber’s hereditary optic neuropathy von Battisti, C, Formichi, P, Cardaioli, E, Bianchi, S, Mangiavacchi, P, Tripodi, S A, Tosi, P, Federico, A

Volltext

Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations von Da Pozzo, Paola, Cardaioli, Elena, Radi, Elena, Federico, Antonio

Volltext

A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia von Cardaioli, Elena, Da Pozzo, Paola, Radi, Elena, Dotti, Maria Teresa, Federico, Antonio

Volltext

Genetic leukoencephalopathies with unknown metabolic pathogenesis von Federico, A, Rufa, A, Battisti, C, Bianchi, S, Cardaioli, E, Da Pozzo, P, De Stefano, N, Formichi, P, Sicurelli, F, Dotti, M T

Volltext

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy von Petruzzella, Vittoria, Tessa, Alessandra, Torraco, Alessandra, Fattori, Fabiana, Dotti, Maria Teresa, Bruno, Claudio, Cardaioli, Elena, Papa, Sergio, Federico, Antonio, Santorelli, Filippo M.

Volltext

Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNA super(Leu(CUN) mutation of mitochondrial DNA) von Cardaioli, E, Da Pozzo, P, Malfatti, E, Gallus, G N, Rubegni, A, Malandrini, A, Gaudiano, C, Guidi, L, Serni, G, Berti, G, Dotti, M T, Federico, A

Volltext