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Results: 1-18 |
Results: 18
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001)
Authors: Spelbrink, JN Li, FY Tiranti, V Nikali, K Yuan, QP Tariq, M Wanrooij, S Garrido, N Comi, G Morandi, L Santoro, L Toscano, A Fabrizi, GM Somer, H Croxen, R Beeson, D Poulton, J Suomalainen, A Jacobs, HT Zeviani, M Larsson, C
Citation: Jn. Spelbrink et al., Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001), NAT GENET, 29(1), 2001, pp. 100-100
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
Authors: Spelbrink, JN Li, FY Tiranti, V Nikali, K Yuan, QP Tariq, M Wanrooij, S Garrido, N Comi, G Morandi, L Santoro, L Toscano, A Fabrizi, GM Somer, H Croxen, R Beeson, D Poulton, L Suomalainen, A Jacobs, HT Zeviani, M Larsson, C
Citation: Jn. Spelbrink et al., Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria, NAT GENET, 28(3), 2001, pp. 223-231
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency
Authors: Pequignot, MO Dey, R Zeviani, M Tiranti, V Godinot, C Poyau, A Sue, C Di Mauro, S Abitbol, M Marsac, C
Citation: Mo. Pequignot et al., Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency, HUM MUTAT, 17(5), 2001, pp. 374-381
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction
Authors: Hutchin, TP Navarro-Coy, NC Van Camp, G Tiranti, V Zeviani, M Schuelkes, M Jaksch, M Newton, V Mueller, RF
Citation: Tp. Hutchin et al., Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction, EUR J HUM G, 9(5), 2001, pp. 385-387
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
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
Role of adenine nucleotide translocator 1 in mtDNA maintenance
Authors: Kaukonen, J Juselius, JK Tiranti, V Kyttala, A Zeviani, M Comi, GP Keranen, S Peltonen, L Suomalainen, A
Citation: J. Kaukonen et al., Role of adenine nucleotide translocator 1 in mtDNA maintenance, SCIENCE, 289(5480), 2000, pp. 782-785
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals
Authors: Rovio, A Tiranti, V Bednarz, AL Suomalainen, A Spelbrink, JN Lecrenier, N Melberg, A Zeviani, M Poulton, J Foury, F Jacobs, HT
Citation: A. Rovio et al., Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals, EUR J HUM G, 7(2), 1999, pp. 140-146
Hearing impairment and neurological dysfunction associated with a mutationin the mitochondrial tRNA(Ser(UCN)) gene
Authors: Verhoeven, K Ensink, RJH Tiranti, V Huygen, PLM Johnson, DF Schatteman, I Van Laer, L Verstreken, M Van de Heyning, P Fischel-Ghodsian, N Zeviani, M Cremers, CWRJ Willems, PJ Van Camp, G
Citation: K. Verhoeven et al., Hearing impairment and neurological dysfunction associated with a mutationin the mitochondrial tRNA(Ser(UCN)) gene, EUR J HUM G, 7(1), 1999, pp. 45-51
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions
Authors: Tiranti, V Galimberti, C Nijtmans, L Bovolenta, S Perini, MP Zeviani, M
Citation: V. Tiranti et al., Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions, HUM MOL GEN, 8(13), 1999, pp. 2533-2540
Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids
Authors: Toompuu, M Tiranti, V Zeviani, M Jacobs, HT
Citation: M. Toompuu et al., Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids, HUM MOL GEN, 8(12), 1999, pp. 2275-2283
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
Nuclear gene defects in mitochondrial disorders
Authors: Zeviani, M Corona, P Nijtmans, L Tiranti, V
Citation: M. Zeviani et al., Nuclear gene defects in mitochondrial disorders, ITAL J NEUR, 20(6), 1999, pp. 401-408
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
Authors: Tiranti, V Jaksch, M Hofmann, S Galimberti, C Hoertnagel, K Lulli, L Freisinger, P Bindoff, L Gerbitz, KD Comi, GP Uziel, G Zeviani, M Meitinger, T
Citation: V. Tiranti et al., Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency, ANN NEUROL, 46(2), 1999, pp. 161-166
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
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain
Authors: Petruzzella, V Tiranti, V Fernandez, P Ianna, P Carrozzo, R Zeviani, M
Citation: V. Petruzzella et al., Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain, GENOMICS, 54(3), 1998, pp. 494-504
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
Authors: Tiranti, V Hoertnagel, K Carrozzo, R Galimberti, C Munaro, M Granatiero, M Zelante, L Gasparini, P Marzella, R Rocchi, M Bayona-Bafaluy, MP Enriquez, JA Uziel, G Bertini, E Dionisi-Vici, C Franco, B Meitinger, T Zeviani, M
Citation: V. Tiranti et al., Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency, AM J HU GEN, 63(6), 1998, pp. 1609-1621
Risultati: 1-18 |