Sfoglia per Autore
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Biochemical features and therapeutic approaches
2007 Lara, M.C.; Valentino, M.L.; Torres-Torronteras, J.; Hirano, M.; Martí, R.
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.
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.
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
2007 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.
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
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.
2008 Shankar S.P.; Fingert J.H.; Carelli V.; Valentino M.L.; King T.M.; Daiger S.P.; Salomao S.R.; Berezovsky A.; Belfort R. Jr.; Braun T.A.; Sheffield V.C.; Sadun A.A.; Stone E.M.
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.
2008 Giordano C; Sebastiani M; De Giorgio R; Travaglini C; Tancredi A; Valentino ML; Bellan M; Cossarizza A; Hirano M; d'Amati G; Carelli V.
Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis.
2008 D'Aguanno S.; Barassi A.; Lupisella S.; d'eril G.M.; Del Boccio P.; Pieragostino D.; Pallotti F.; Carelli V.; Valentino M.L.; Liguori R.; Avoni P.; Bernardini S.; Gambi D.; Urbani A.; Federici G.
OPA 1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
2008 Zanna C.; Ghelli A.; Porcelli A.M.; Karbowski M.; Youle R.J.; Schimpf S.; Wissinger B.; Pinti M.; Cossarizza A.; Vidoni S.; Valentino M.L.; Rugolo M.; Carelli V.
OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes
2008 Amati-Bonneau P.; Valentino M.L.; Reynier P.; Gallardo M.E.; Bornstein B.; Boissiere A.; Campos Y; Rivera H; de la Aleja J.G.; Carroccia R.; Iommarini L.; Labauge P.; Figarella-Branger D.; Marcorelles P.; Furby A.; Beauvais K.; Letournel F.; Liguori R.; La Morgia C.; Montagna P.; Liguori M.; Zanna C.; Rugolo M.; Cossarizza A.; Wissinger B.; Verny C.; Schwarzenbacher R.; Martin M.A.; Arenas J.; Ayuso C.; Garesse R.; Lenaers G.; Bonneau D.; Carelli V.
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
2008 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
Visual system involvement in patients with Friedreich's ataxia
2009 Fortuna, F.; Barboni, P.; Liguori, R.; Valentino, M.L.; Savini, G.; Gellera, C.; Mariotti, C.; Rizzo, G.; Tonon, C.; Manners, D.; Lodi, R.; Sadun, A.A.; Carelli, V.
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.
2009 do V.F. Ramos .C.; Bellusci C.; Savini G.; Carbonelli M.; Berezovsky A.; Tamaki C.; Cinoto R.; Sacai P.Y.; Moraes-Filho M.N.; Miura H.M.; Valentino M.L.; Iommarini L.; De Negri A.M.; Sadun F.; Cortelli P.; Montagna P.; Salomao S.R.; Sadun A.A.; Carelli V.; Barboni P.
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
2009 Carelli V.; La Morgia C.; Valentino M.L.; Barboni P.; Ross-Cisneros F.N.; Sadun A.A.
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
2010 Cevoli S.; Pallotti F.; La Morgia C.; Valentino M.L.; Pierangeli G.; Cortelli P.; Baruzzi A.; Montagna P.; Carelli V.
Multi-system neurological disease is common in patients with OPA1 mutations.
2010 Yu-Wai-Man P;Griffiths PG;Gorman GS;Lourenco CM;Wright AF;Auer-Grumbach M;Toscano A;Musumeci O;Valentino ML;Caporali L;Lamperti C;Tallaksen CM;Duffey P;Miller J;Whittaker RG;Baker MR;Jackson MJ;Clarke MP;Dhillon B;Czermin B;Stewart JD;Hudson G;Reynier P;Bonneau D;Marques W Jr;Lenaers G;McFarland R;Taylor RW;Turnbull DM;Votruba M;Zeviani M;Carelli V;Bindoff LA;Horvath R;Amati-Bonneau P;Chinnery PF
Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON).
2010 Vetrugno R.; Valentino M.L.; La Morgia C.; Liguori R.; Stecchi S.; Mascalchi M.; Fabbri M.; Montagna P.; Carelli V.
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
2010 Barboni P.; Carbonelli M.; Savini G.; Foscarini B.; Parisi V.; Valentino M.L.; Carta A.; De Negri A.; Sadun F.; Zeviani M.; Sadun A.A.; Schimpf S.; Wissinger B.; Carelli V.
Secondary Involvement Of Optic Radiation In Leber’s Hereditary Optic Neuropathy
2011 Malucelli E; Rizzo G; Manners DN; Tonon C ; Testa C; Valentino ML; La Morgia C ; Barboni P; Carelli V; Lodi R
Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy
2011 G Rizzo; DN Manners; C Tonon; C Testa; E Malucelli; ML Valentino; C La Morgia; P Barboni; B Barbiroli; V Carelli; R Lodi
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Biochemical features and therapeutic approaches | Lara, M.C.; Valentino, M.L.; Torres-Torronteras, J.; Hirano, M.; Martí, R. | 2007-01-01 | BIOSCIENCE REPORTS | - | 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 | - |
| 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 | - |
| Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. | 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. | 2007-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 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 |
| Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. | Shankar S.P.; Fingert J.H.; Carelli V.; Valentino M.L.; King T.M.; Daiger S.P.; Salomao S.R.; Ber...ezovsky A.; Belfort R. Jr.; Braun T.A.; Sheffield V.C.; Sadun A.A.; Stone E.M. | 2008-01-01 | OPHTHALMIC GENETICS | - | 1.01 Articolo in rivista | - |
| Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. | Giordano C; Sebastiani M; De Giorgio R; Travaglini C; Tancredi A; Valentino ML; Bellan M; Cossari...zza A; Hirano M; d'Amati G; Carelli V. | 2008-01-01 | THE AMERICAN JOURNAL OF PATHOLOGY | - | 1.01 Articolo in rivista | - |
| Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. | D'Aguanno S.; Barassi A.; Lupisella S.; d'eril G.M.; Del Boccio P.; Pieragostino D.; Pallotti F.;... Carelli V.; Valentino M.L.; Liguori R.; Avoni P.; Bernardini S.; Gambi D.; Urbani A.; Federici G. | 2008-01-01 | JOURNAL OF NEUROIMMUNOLOGY | - | 1.01 Articolo in rivista | - |
| OPA 1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. | Zanna C.; Ghelli A.; Porcelli A.M.; Karbowski M.; Youle R.J.; Schimpf S.; Wissinger B.; Pinti M.;... Cossarizza A.; Vidoni S.; Valentino M.L.; Rugolo M.; Carelli V. | 2008-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| OPA 1 mutations induce mitochondrial DNA instability and optic atrophy "plus" phenotypes | Amati-Bonneau P.; Valentino M.L.; Reynier P.; Gallardo M.E.; Bornstein B.; Boissiere A.; Campos Y...; Rivera H; de la Aleja J.G.; Carroccia R.; Iommarini L.; Labauge P.; Figarella-Branger D.; Marcorelles P.; Furby A.; Beauvais K.; Letournel F.; Liguori R.; La Morgia C.; Montagna P.; Liguori M.; Zanna C.; Rugolo M.; Cossarizza A.; Wissinger B.; Verny C.; Schwarzenbacher R.; Martin M.A.; Arenas J.; Ayuso C.; Garesse R.; Lenaers G.; Bonneau D.; Carelli V. | 2008-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes | Carelli, V; Reynier, P; Lucia, M; Labauge, P; Verny, C; Furby, A; Lenaers, G; Carroccia, R; Iomma...rini, L; La Morgia, C; Liguori, R; Zanna, C; Campos, Y; Arenas, J; Garesse, R; Wissinger, B; Bonneau, D; Amati-Bonneau, P | 2008-01-01 | NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | 4.02 Riassunto (Abstract) | - |
| Visual system involvement in patients with Friedreich's ataxia | Fortuna, F.; Barboni, P.; Liguori, R.; Valentino, M.L.; Savini, G.; Gellera, C.; Mariotti, C.; Ri...zzo, G.; Tonon, C.; Manners, D.; Lodi, R.; Sadun, A.A.; Carelli, V. | 2009-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. | do V.F. Ramos .C.; Bellusci C.; Savini G.; Carbonelli M.; Berezovsky A.; Tamaki C.; Cinoto R.; Sa...cai P.Y.; Moraes-Filho M.N.; Miura H.M.; Valentino M.L.; Iommarini L.; De Negri A.M.; Sadun F.; Cortelli P.; Montagna P.; Salomao S.R.; Sadun A.A.; Carelli V.; Barboni P. | 2009-01-01 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | - | 1.01 Articolo in rivista | - |
| Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. | Carelli V.; La Morgia C.; Valentino M.L.; Barboni P.; Ross-Cisneros F.N.; Sadun A.A. | 2009-01-01 | BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | - | 1.01 Articolo in rivista | - |
| High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. | Cevoli S.; Pallotti F.; La Morgia C.; Valentino M.L.; Pierangeli G.; Cortelli P.; Baruzzi A.; Mon...tagna P.; Carelli V. | 2010-01-01 | CEPHALALGIA | - | 1.01 Articolo in rivista | - |
| Multi-system neurological disease is common in patients with OPA1 mutations. | Yu-Wai-Man P;Griffiths PG;Gorman GS;Lourenco CM;Wright AF;Auer-Grumbach M;Toscano A;Musumeci O;Va...lentino ML;Caporali L;Lamperti C;Tallaksen CM;Duffey P;Miller J;Whittaker RG;Baker MR;Jackson MJ;Clarke MP;Dhillon B;Czermin B;Stewart JD;Hudson G;Reynier P;Bonneau D;Marques W Jr;Lenaers G;McFarland R;Taylor RW;Turnbull DM;Votruba M;Zeviani M;Carelli V;Bindoff LA;Horvath R;Amati-Bonneau P;Chinnery PF | 2010-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON). | Vetrugno R.; Valentino M.L.; La Morgia C.; Liguori R.; Stecchi S.; Mascalchi M.; Fabbri M.; Monta...gna P.; Carelli V. | 2010-01-01 | SLEEP MEDICINE | - | 1.01 Articolo in rivista | - |
| OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. | Barboni P.; Carbonelli M.; Savini G.; Foscarini B.; Parisi V.; Valentino M.L.; Carta A.; De Negri... A.; Sadun F.; Zeviani M.; Sadun A.A.; Schimpf S.; Wissinger B.; Carelli V. | 2010-01-01 | OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| Secondary Involvement Of Optic Radiation In Leber’s Hereditary Optic Neuropathy | Malucelli E; Rizzo G; Manners DN; Tonon C ; Testa C; Valentino ML; La Morgia C ; Barboni P; Carel...li V; Lodi R | 2011-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
| Secondary Involvement of Optic Radiation in Leber’s Hereditary Optic Neuropathy | G Rizzo; DN Manners; C Tonon; C Testa; E Malucelli; ML Valentino; C La Morgia; P Barboni; B Barbi...roli; V Carelli; R Lodi | 2011-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
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