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 [Scientific article]
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) [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 [Scientific article]
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) [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 [Scientific article]
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 [Scientific article]
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 [Scientific article]
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 [Scientific article]
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 [Scientific article]
Pontarin, G.; Ferraro, P.; Valentino, M.L.; Hirano, M.; Reichard, P.; Bianchi, V., Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy, «THE JOURNAL OF BIOLOGICAL CHEMISTRY», 2006, 281, pp. 22720 - 22728 [Scientific article]
Giordano C.; Sebastiani M.; Plazzi G.; Travaglini C.; Sale P.; Pinti M.; Tancredi A.; Liguori R.; Montagna P.; Bellan M.; Valentino M.L.; Cossarizza A.; Hirano M.; d'Amati G.; Carelli V., Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine., «GASTROENTEROLOGY», 2006, 130, pp. 893 - 901 [Scientific article]
Valentino ML.; Barboni P.; Rengo C.; Achilli A.; Torroni A; Lodi R.; Tonon C.; Barbiroli B.; Fortuna F.; Montagna P.; Baruzzi A.; Carelli V., The 13042G>A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype., «JOURNAL OF MEDICAL GENETICS», 2006, 43(7), pp. e38 - e38 [Scientific article]
M.L. Valentino; P. Barboni; C. Rengo; A. Achilli; A. Torroni; C. Tonon; R. Lodi; B. Barbiroli; F. Fortuna; P. Montagna; A. Baruzzi; V. Carelli., Leber’s hereditary optic neuropathy prevalent phenotype in a family segregating the G13042A/ND5 mtDNA point mutation., in: , «NEUROLOGY», 2005, 64, pp. -- - -- (atti di: American Academy of Neurology 57th Annual Meeting, Miami Beach, Florida, USA, 9-16 Aprile 2005) [Abstract]
C. La Morgia; B. Mostacci; M. Stanzani; M. Amadori; C. Tonon; R. Lodi; R. Liguori; M.L. Valentino; P. Barboni; P. Montagna; V. Carelli, Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families., in: , «NEUROLOGICAL SCIENCES», 2005, 26, pp. 340 - 340 (atti di: XXXVI Congress of the Italian Neurological Society,, Cernobbio, 8-12 Ottobre 2005) [Abstract]
Barboni P.; Savini G.; Valentino ML.; Montagna P.; Cortelli P.; De Negri AM.; Sadun F.; Bianchi S.; Longanesi L.; Zanini M.; De Vivo A.; Carelli V., Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy, «OPHTHALMOLOGY», 2005, 112, pp. 120 - 126 [Scientific article]
