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Results: 1-14 |
Results: 14
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
Authors: Petruzzella, V Vergari, R Puzziferri, I Boffoli, D Lamantea, E Zeviani, M Papa, S
Citation: V. Petruzzella et al., A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome, HUM MOL GEN, 10(5), 2001, pp. 529-535
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
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain
Authors: Wittig, I Augstein, P Brown, GK Fujii, T Rotig, A Rustin, P Munnich, A Seibel, P Thorburn, D Wissinger, B Tamboom, K Metspalu, A Lamantea, E Zeviani, M Wehnert, MS
Citation: I. Wittig et al., Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain, J INH MET D, 24(1), 2001, pp. 15-27
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
Neuronal ceroid lipofuscinosis: detection of atypical forms
Authors: Nardocci, N Morbin, M Bugiani, M Lamantea, E Bugiani, O
Citation: N. Nardocci et al., Neuronal ceroid lipofuscinosis: detection of atypical forms, NEUROL SCI, 21(3), 2000, pp. S57-S61
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
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency
Authors: Pons, R Cavadini, P Baratta, S Invernizzi, F Lamantea, E Garavaglia, B Taroni, F
Citation: R. Pons et al., Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency, PED NEUROL, 22(2), 2000, pp. 98-105
Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis
Authors: Henderson, NS Nijtmans, LGJ Lindsay, JG Lamantea, E Zeviani, M Holt, LJ
Citation: Ns. Henderson et al., Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis, ELECTROPHOR, 21(14), 2000, pp. 2925-2931
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
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
3-methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
Authors: Di Rocco, M Caruso, U Moroni, I Lupino, S Lamantea, E Fantasia, AR Borrone, C Gibson, KM
Citation: M. Di Rocco et al., 3-methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease, J INH MET D, 22(5), 1999, pp. 593-A598
Leigh syndrome transmitted by uniparental disomy of chromosome 9
Authors: Tiranti, V Lamantea, E Uziel, G Zeviani, M Gasparini, P Marzella, R Rocchi, M Fried, M
Citation: V. Tiranti et al., Leigh syndrome transmitted by uniparental disomy of chromosome 9, J MED GENET, 36(12), 1999, pp. 927-928
Acute, severe cardiomyopathy as main symptom of late-onset very long-chainacyl-coenzyme A dehydrogenase deficiency
Authors: Parini, R Menni, F Garavaglia, B Fesslova, V Melotti, D Massone, ML Lamantea, E Rimoldi, M Vizziello, P Gatti, R
Citation: R. Parini et al., Acute, severe cardiomyopathy as main symptom of late-onset very long-chainacyl-coenzyme A dehydrogenase deficiency, EUR J PED, 157(12), 1998, pp. 992-995
Risultati: 1-14 |