Sfoglia per Autore
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report.
2004 BARBONI P; SAVINI G; PLAZZI G.; BELLAN M; VALENTINO ML; ZANINI M; MONTAGNA P; HIRANO M; CARELLI V.
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.
2004 LODI R; TONON C; VALENTINO ML; IOTTI S; CLEMENTI V; MALUCELLI E; BARBONI P; LONGANESI L; SCHIMPF S; WISSINGER B; BARUZZI A.; BARBIROLI B; CARELLI V.
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.
2004 VALENTINO ML; BARBONI P; GHELLI A; BUCCHI L; RENGO C; ACHILLI A; TORRONI A; LUGARESI A; LODI R; BARBIROLI B; DOTTI M; FEDERICO A; BARUZZI A.; CARELLI V.
Leber’s hereditary optic neuropathy prevalent phenotype in a family segregating the G13042A/ND5 mtDNA point mutation.
2005 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.
Thymidine phosphorylase mutations cause instability of mitochondrial DNA
2005 Hirano, M.; Lagier-Tourenne, C.; Valentino, M.L.; Martí, R.; Nishigaki, Y.
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy
2005 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.
Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families.
2005 C. La Morgia; B. Mostacci; M. Stanzani; M. Amadori; C. Tonon; R. Lodi; R. Liguori; M.L. Valentino; P. Barboni; P. Montagna; V. Carelli
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations.
2005 Savini G.; Barboni P.; Valentino M.L.; Montagna P.; Cortelli P.; De Negri A.M.; Sadun F.; Bianchi S.; Longanesi L.; Zanini M.; Carelli V.
The 13042G>A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.
2006 Valentino ML.; Barboni P.; Rengo C.; Achilli A.; Torroni A; Lodi R.; Tonon C.; Barbiroli B.; Fortuna F.; Montagna P.; Baruzzi A.; Carelli V.
Infusion of platelets transiently reduces nucleoside overload in MNGIE
2006 Lara, M.C.; Weiss, B.; Illa, I.; Madoz, P.; Massuet, L.; Andreu, A.L.; Valentino, M.L.; Anikster, Y.; Hirano, M.; Martí, R.
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
2006 Gianluca Sgarbi; Alessandra Baracca; Giorgio Lenaz; Lucia M. Valentino; Valerio Carelli; Giancarlo Solaini
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations.
2006 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.
Leber's Hereditary Optic Neuropathy with childhood onset.
2006 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.
Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.
2006 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.
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
2006 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.
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy
2006 Pontarin, G.; Ferraro, P.; Valentino, M.L.; Hirano, M.; Reichard, P.; Bianchi, V.
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
2006 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.
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
2007 Valentino M.L.; Martì R.; Tadesse S.; Lòpez L.C.; Manes J.L.; Lyzak J.; Hahn A.; Carelli V.; Hirano M.
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?
2007 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
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993
2007 Baracca A; Sgarbi G; Mattiazzi M; Casalena G; Pagnotta E; Valentino ML; Moggio M; Lenaz G; Carelli V; Solaini G.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. | BARBONI P; SAVINI G; PLAZZI G.; BELLAN M; VALENTINO ML; ZANINI M; MONTAGNA P; HIRANO M; CARELLI V. | 2004-01-01 | GRAEFE'S ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. | LODI R; TONON C; VALENTINO ML; IOTTI S; CLEMENTI V; MALUCELLI E; BARBONI P; LONGANESI L; SCHIMPF ...S; WISSINGER B; BARUZZI A.; BARBIROLI B; CARELLI V. | 2004-01-01 | ANNALS OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. | VALENTINO ML; BARBONI P; GHELLI A; BUCCHI L; RENGO C; ACHILLI A; TORRONI A; LUGARESI A; LODI R; B...ARBIROLI B; DOTTI M; FEDERICO A; BARUZZI A.; CARELLI V. | 2004-01-01 | ANNALS OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Leber’s hereditary optic neuropathy prevalent phenotype in a family segregating the G13042A/ND5 mtDNA point mutation. | 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. | 2005-01-01 | NEUROLOGY | - | 4.02 Riassunto (Abstract) | - |
| Thymidine phosphorylase mutations cause instability of mitochondrial DNA | Hirano, M.; Lagier-Tourenne, C.; Valentino, M.L.; Martí, R.; Nishigaki, Y. | 2005-01-01 | GENE | - | 1.01 Articolo in rivista | - |
| Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy | 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. | 2005-01-01 | OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| Leber’s hereditary optuc neuropathy (LHON) “plus”: maternal clustering of extraocular features in two italian families. | C. La Morgia; B. Mostacci; M. Stanzani; M. Amadori; C. Tonon; R. Lodi; R. Liguori; M.L. Valentino...; P. Barboni; P. Montagna; V. Carelli | 2005-01-01 | NEUROLOGICAL SCIENCES | - | 4.02 Riassunto (Abstract) | - |
| Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. | Savini G.; Barboni P.; Valentino M.L.; Montagna P.; Cortelli P.; De Negri A.M.; Sadun F.; Bianchi... S.; Longanesi L.; Zanini M.; Carelli V. | 2005-01-01 | OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| The 13042G>A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. | Valentino ML.; Barboni P.; Rengo C.; Achilli A.; Torroni A; Lodi R.; Tonon C.; Barbiroli B.; Fort...una F.; Montagna P.; Baruzzi A.; Carelli V. | 2006-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | - |
| Infusion of platelets transiently reduces nucleoside overload in MNGIE | Lara, M.C.; Weiss, B.; Illa, I.; Madoz, P.; Massuet, L.; Andreu, A.L.; Valentino, M.L.; Anikster,... Y.; Hirano, M.; Martí, R. | 2006-01-01 | NEUROLOGY | - | 1.01 Articolo in rivista | - |
| 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 | Gianluca Sgarbi; Alessandra Baracca; Giorgio Lenaz; Lucia M. Valentino; Valerio Carelli; Giancarl...o Solaini | 2006-01-01 | BIOCHEMICAL JOURNAL | - | 1.01 Articolo in rivista | - |
| A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. | Bellan M.; Avoni P.; Liguori R.; Carroccia R.; Valentino M.L.; Villanova M.; La Morgia C.; Fulita...no D.; Baruzzi A.; Lodi R.; Tonon C.; Lamantea E.; Zeviani M.; Carelli V. | 2006-01-01 | NEUROLOGICAL SCIENCES | - | 4.02 Riassunto (Abstract) | - |
| Leber's Hereditary Optic Neuropathy with childhood onset. | 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. | 2006-01-01 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | - | 1.01 Articolo in rivista | - |
| Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. | 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. | 2006-01-01 | GASTROENTEROLOGY | - | 1.01 Articolo in rivista | - |
| Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE | 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. | 2006-01-01 | NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy | Pontarin, G.; Ferraro, P.; Valentino, M.L.; Hirano, M.; Reichard, P.; Bianchi, V. | 2006-01-01 | THE JOURNAL OF BIOLOGICAL CHEMISTRY | - | 1.01 Articolo in rivista | - |
| Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. | 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. | 2006-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). | Valentino M.L.; Martì R.; Tadesse S.; Lòpez L.C.; Manes J.L.; Lyzak J.; Hahn A.; Carelli V.; Hira...no M. | 2007-01-01 | FEBS LETTERS | - | 1.01 Articolo in rivista | - |
| Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? | Valerio Carelli, Flavia Franceschini, Silvia Venturi, Piero Barboni, Giacomo Savini, Giuseppe Bar...bieri, Ettore Pirro, Chiara La Morgia, Maria L. Valentino, Francesca Zanardi, Francesco S. Violante, Stefano Mattioli | 2007-01-01 | ENVIRONMENTAL HEALTH PERSPECTIVES | - | 1.01 Articolo in rivista | Grand Rounds.pdf |
| Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 | Baracca A; Sgarbi G; Mattiazzi M; Casalena G; Pagnotta E; Valentino ML; Moggio M; Lenaz G; Carell...i V; Solaini G. | 2007-01-01 | BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | - | 1.01 Articolo in rivista | - |
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