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Results: 1-13 |
Results: 13
Papillitis as an onset sign of Leber's hereditary optic neuropathy: a casereport
Authors: Pantaleoni, C D'Arrigo, S Bagnasco, I Piozzi, E Carrara, F Scaioli, V Riva, D
Citation: C. Pantaleoni et al., Papillitis as an onset sign of Leber's hereditary optic neuropathy: a casereport, BRAIN DEVEL, 23(2), 2001, pp. 125-127
Novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients
Authors: Corona, P Antozzi, C Carrara, F D'Incerti, L Lamantea, E Tiranti, V Zeviani, M
Citation: P. Corona et al., Novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients, ANN NEUROL, 49(1), 2001, pp. 106-110
Aryllead triacetates in the synthesis of oxaphenanthrene derivatives
Authors: Fedorov, AY Carrara, F Finet, JP
Citation: Ay. Fedorov et al., Aryllead triacetates in the synthesis of oxaphenanthrene derivatives, TETRAHEDR L, 42(34), 2001, pp. 5875-5877
Epileptic phenotypes associated with mitochondrial disorders
Authors: Canafoglia, L Franceschetti, S Antozzi, C Carrara, F Farina, L Granata, T Lamantea, E Savoiardo, M Uziel, G Villani, F Zeviani, M Avanzini, G
Citation: L. Canafoglia et al., Epileptic phenotypes associated with mitochondrial disorders, NEUROLOGY, 56(10), 2001, pp. 1340-1346
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
Authors: Borner, GV Zeviani, M Tiranti, V Carrara, F Hoffmann, S Gerbitz, KD Lochmuller, H Pongratz, D Klopstock, T Melberg, A Holme, E Paabo, S
Citation: Gv. Borner et al., Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients, HUM MOL GEN, 9(4), 2000, pp. 467-475
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome
Authors: Tiranti, V Corona, P Greco, M Taanman, JW Carrara, F Lamantea, E Nijtmans, L Uziel, G Zeviani, M
Citation: V. Tiranti et al., A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome, HUM MOL GEN, 9(18), 2000, pp. 2733-2742
Neuromuscular syndrome associated with the 3291T -> C mutation of mitochondrial DNA: a second case
Authors: Uziel, G Carrara, F Granata, T Lamantea, E Mora, M Zeviani, M
Citation: G. Uziel et al., Neuromuscular syndrome associated with the 3291T -> C mutation of mitochondrial DNA: a second case, NEUROMUSC D, 10(6), 2000, pp. 415-418
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease
Authors: Selleri, S Torchiana, E Pareyson, D Lulli, L Bertagnolio, B Savoiardo, M Farina, L Carrara, F Filocamo, M Gatti, R Sghirlanzoni, A Uziel, G Finocchiaro, G
Citation: S. Selleri et al., Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease, J NEUROL, 247(11), 2000, pp. 875-877
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion
Authors: Poggi, GM Lamantea, E Ciani, F Donati, MA Carrara, F Bartalena, L Garavaglia, B Zammarchi, E
Citation: Gm. Poggi et al., Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion, J INH MET D, 23(7), 2000, pp. 755-757
Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia
Authors: Carta, A D'Adda, T Carrara, F Zeviani, M
Citation: A. Carta et al., Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia, ARCH OPHTH, 118(10), 2000, pp. 1441-1445
A novel mutation (8342G -> A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus
Authors: Tiranti, V Carrara, F Confalonieri, P Mora, M Maffei, RM Lamantea, E Zeviani, M
Citation: V. Tiranti et al., A novel mutation (8342G -> A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus, NEUROMUSC D, 9(2), 1999, pp. 66-71
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy
Authors: Bruno, C Kirby, DM Koga, Y Garavaglia, B Duran, G Santorelli, FM Shield, LK Xia, WL Shanske, S Goldstein, JD Iwanaga, R Akita, Y Carrara, F Davis, A Zeviani, M Thorburn, DR DiMauro, S
Citation: C. Bruno et al., The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy, J PEDIAT, 135(2), 1999, pp. 197-202
Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy
Authors: Villani, F Gellera, C Spreafico, R Castellotti, B Casazza, M Carrara, F Avanzini, G
Citation: F. Villani et al., Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy, ACT NEUR SC, 98(5), 1998, pp. 324-327
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