Carelli, V; Reynier, P; Lucia, M; Labauge, P; Verny, C; Furby, A; Lenaers, G; Carroccia, R; Iommarini, L; La Morgia, C; Liguori, R; Zanna, C; Campos, Y; Arenas, J; Garesse, R; Wissinger, B; Bonneau, D; Amati-Bonneau, P, OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes, in: 60th Annual Meeting of the American-Academy-of-Neurology, TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA, LIPPINCOTT WILLIAMS & WILKINS, «NEUROLOGY», 2008, 70, pp. A486 - A486 (atti di: 60th Annual Meeting of the American-Academy-of-Neurology, Chicago, 12-19 Aprile 2008) [atti di convegno-abstract]
Genasetti A.; Valentino M.L.; Carelli V.; Vigetti D.; Viola M.; Karousou E.G.; Melzi d'Eril G.V.; De Luca G.; Passi A.; Pallotti F., Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach., «THE JOURNAL OF MOLECULAR DIAGNOSTICS», 2007, 9, pp. 538 - 545 [articolo]
Baracca A; Sgarbi G; Mattiazzi M; Casalena G; Pagnotta E; Valentino ML; Moggio M; Lenaz G; Carelli V; Solaini G., Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993, «BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS», 2007, 1767, pp. 913 - 919 [articolo]
Hudson G.; Carelli V.; Spruijt L.; Gerards M.; Mowbray C.; Achilli A.; Pyle A.; Elson J.; Howell N.; La Morgia C.; Valentino M.L.; Huoponen K.; Savontaus M.L.; Nikoskelainen E.; Sadun A.A.; Salomao S.R.; Belfort R. Jr; Griffiths P.; Man P.Y.; de Coo R.F.; Horvath R.; Zeviani M.; Smeets H.J.; Torroni A.; Chinnery P.F., Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background., «AMERICAN JOURNAL OF HUMAN GENETICS», 2007, 81, pp. 228 - 233 [articolo]
Valerio Carelli, Flavia Franceschini, Silvia Venturi, Piero Barboni, Giacomo Savini, Giuseppe Barbieri, Ettore Pirro, Chiara La Morgia, Maria L. Valentino, Francesca Zanardi, Francesco S. Violante, Stefano Mattioli, Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?, «ENVIRONMENTAL HEALTH PERSPECTIVES», 2007, 115, pp. 113 - 115 [articolo]Open Access
Lara, M.C.; Valentino, M.L.; Torres-Torronteras, J.; Hirano, M.; Martí, R., Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Biochemical features and therapeutic approaches, «BIOSCIENCE REPORTS», 2007, 27, pp. 151 - 163 [articolo]
Carelli V.; La Morgia C.; Iommarini L.; Carroccia R.; Mattiazzi M.; Sangiorgi S.; Farné S.; Maresca A.; Foscarini B.; Lanzi L.; Amadori M.; Bellan M.; Valentino M.L., Mitochondrial optic neuropathies: how two genomes may kill the same cell type?, «BIOSCIENCE REPORTS», 2007, 27, pp. 173 - 184 [articolo]
C. La Morgia; A. Achilli; L. Iommarini; M. L. Valentino; P. Barboni; M. Pala; A. Olivieri; C. Tonon; R. Lodi; R. Vetrugno; B. Mostacci; R. Liguori; R. Carroccia; M. Amadori; P. Montagna; A. Torroni; V. Carelli, Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus, in: Neurology A1-A508, s.l, s.n, 2007, 68, pp. A40 - A40 (atti di: 59th American Academy of Neurology Annual Meeting, Boston, USA, April 28-May 5 2007) [atti di convegno-abstract]
Valentino M.L.; Martì R.; Tadesse S.; Lòpez L.C.; Manes J.L.; Lyzak J.; Hahn A.; Carelli V.; Hirano M., Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)., «FEBS LETTERS», 2007, 581, pp. 3410 - 3414 [articolo]
Bellan M.; Avoni P.; Liguori R.; Carroccia R.; Valentino M.L.; Villanova M.; La Morgia C.; Fulitano D.; Baruzzi A.; Lodi R.; Tonon C.; Lamantea E.; Zeviani M.; Carelli V., A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations., in: , «NEUROLOGICAL SCIENCES», 2006, 27, pp. S228 - S228 (atti di: XXXVII Congress of the Italian Neurological Society, Bari, 14-18 ottobre 2006) [atti di convegno-abstract]
Hirano, M.; Martí, R.; Casali, C.; Tadesse, S.; Uldrick, T.; Fine, B.; Escolar, D.M.; Valentino, M.L.; Nishino, I.; Hesdorffer, C.; Schwartz, J.; Hawks, R.G.; Martone, D.L.; Cairo, M.S.; Dimauro, S.; Stanzani, M.; J.H., Garvin Jr.; Savage, D.G., Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE, «NEUROLOGY», 2006, 67, pp. 1458 - 1460 [articolo]
Carelli V.; Achilli A.; Valentino M.L.; Rengo C.; Semino O.; Pala M.; Olivieri A.; Mattiazzi M.; Pallotti F.; Carrara F.; Zeviani M.; Leuzzi V.; Carducci C.; Valle G.; Simionati B.; Mendieta L.; Salomao S.; Belfort R. Jr.; Sadun A.A.; Torroni A., Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees., «AMERICAN JOURNAL OF HUMAN GENETICS», 2006, 78, pp. 564 - 574 [articolo]
Gianluca Sgarbi; Alessandra Baracca; Giorgio Lenaz; Lucia M. Valentino; Valerio Carelli; Giancarlo Solaini, Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA, «BIOCHEMICAL JOURNAL», 2006, 395, pp. 493 - 500 [articolo]
Lara, M.C.; Weiss, B.; Illa, I.; Madoz, P.; Massuet, L.; Andreu, A.L.; Valentino, M.L.; Anikster, Y.; Hirano, M.; Martí, R., Infusion of platelets transiently reduces nucleoside overload in MNGIE, «NEUROLOGY», 2006, 67, pp. 1461 - 1463 [articolo]
Barboni P.; Savini G.; Valentino M.L.; La Morgia C.; Bellusci C.; De Negri A.M.; Sadun F.; Carta A.; Carbonelli M.; Sadun A.A.; Carelli V., Leber's Hereditary Optic Neuropathy with childhood onset., «INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE», 2006, 47, pp. 5303 - 5309 [articolo]
