Sfoglia per Autore
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.
OPA1 Mutations Result in a Deficit of In Vivo Mitochondrial ATP Production in Patients with Autosomal Dominant Optic Atrophy
2006 R. Lodi; C. Tonon; D. Manners; E. Malucelli; C. Testa; M.L. Valentino; P. Barboni; S. Schaich; S. Schimpf; B. Wissinger; V. Carelli; B. Barbiroli
Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16
2007 V. Carelli; S. Schimpf; M. L. Valentino; N. Fuhrmann; M. Papke; S. Schaich; S. Tippmann; B. Baumann; P. Barboni; A. Ghelli; L. Bucchi; R. Lodi; B. Barbiroli; R. Liguori; R. Carroccia; M. Villanova; P. Montagna; A. Baruzzi; B. Wissinger
Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus
2007 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
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
Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations
2011 Lodi R.; Tonon C.; Valentino M.L.; Manners D.; Testa C.; Malucelli E.; La Morgia C.; Barboni P.; Carbonelli M.; Schimpf S.; Wissinger B.; Zeviani M.; Baruzzi A.;Liguori R.; Barbiroli B.; Carelli V.
Diffusion Tensor Study Of Brain White Matter In OPA1-Dominant Optic Atrophy And Leber's Hereditary Optic Atrophy
2013 Manners DN; Rizzo G; La Morgia C; Tonon C; Testa C; Barboni P; Malucelli E; Valentino ML; Carelli V; Lodi R
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
2013 Barboni P;Valentino ML;La Morgia C;Carbonelli M;Savini G;De Negri A;Simonelli F;Sadun F;Caporali L;Maresca A;Liguori R;Baruzzi A;Zeviani M;Carelli V
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
2013 Caporali L;Ghelli AM;Iommarini L;Maresca A;Valentino ML;La Morgia C;Liguori R;Zanna C;Barboni P;De Nardo V;Martinuzzi A;Rizzo G;Tonon C;Lodi R;Calvaruso MA;Cappelletti M;Porcelli AM;Achilli A;Pala M;Torroni A;Carelli V
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
2014 Giordano C;Iommarini L;Giordano L;Maresca A;Pisano A;Valentino ML;Caporali L;Liguori R;Deceglie S;Roberti M;Fanelli F;Fracasso F;Ross-Cisneros FN;D'Adamo P;Hudson G;Pyle A;Yu-Wai-Man P;Chinnery PF;Zeviani M;Salomao SR;Berezovsky A;Belfort R Jr;Ventura DF;Moraes M;Moraes Filho M;Barboni P;Sadun F;De Negri A;Sadun AA;Tancredi A;Mancini M;d'Amati G;Loguercio Polosa P;Cantatore P;Carelli V
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.
2014 Carossa V;Ghelli A;Tropeano CV;Valentino ML;Iommarini L;Maresca A;Caporali L;Morgia CL;Liguori R;Barboni P;Carbonelli M;Rizzo G;Tonon C;Lodi R;Martinuzzi A;Nardo VD;Rugolo M;Ferretti L;Gandini F;Pala M;Achilli A;Olivieri A;Torroni A;Carelli V
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome (Scientific Reports, (2020), 10, 1, (4785), 10.1038/s41598-020-61735-3)
2020 La Morgia C.; Maresca A.; Amore G.; Gramegna L.L.; Carbonelli M.; Scimonelli E.; Danese A.; Patergnani S.; Caporali L.; Tagliavini F.; Del Dotto V.; Capristo M.; Sadun F.; Barboni P.; Savini G.; Evangelisti S.; Bianchini C.; Valentino M.L.; Liguori R.; Tonon C.; Giorgi C.; Pinton P.; Lodi R.; Carelli V.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
2020 Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Alessandra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E; Copeland, William C; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio
Inflammatory optic neuropathy following SARS-CoV-2 mRNA vaccine: Description of two cases
2021 Valentina Barone; Federico Camilli; Michela Crisci; Cinzia Scandellari; Piero Barboni; Alessandra Lugaresi
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
2024 Aleo S.J.; Del Dotto V.; Romagnoli M.; Fiorini C.; Capirossi G.; Peron C.; Maresca A.; Caporali L.; Capristo M.; Tropeano C.V.; Zanna C.; Ross-Cisneros F.N.; Sadun A.A.; Pignataro M.G.; Giordano C.; Fasano C.; Cavaliere A.; Porcelli A.M.; Tioli G.; Musiani F.; Catania A.; Lamperti C.; Marzoli S.B.; De Negri A.; Cascavilla M.L.; Battista M.; Barboni P.; Carbonelli M.; Amore G.; La Morgia C.; Smirnov D.; Vasilescu C.; Farzeen A.; Blickhaeuser B.; Prokisch H.; Priglinger C.; Livonius B.; Catarino C.B.; Klopstock T.; Tiranti V.; Carelli V.; Ghelli A.M.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| 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 | - |
| OPA1 Mutations Result in a Deficit of In Vivo Mitochondrial ATP Production in Patients with Autosomal Dominant Optic Atrophy | R. Lodi; C. Tonon; D. Manners; E. Malucelli; C. Testa; M.L. Valentino; P. Barboni; S. Schaich; S.... Schimpf; B. Wissinger; V. Carelli; B. Barbiroli | 2006-01-01 | - | s.n | 4.02 Riassunto (Abstract) | - |
| Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16 | V. Carelli; S. Schimpf; M. L. Valentino; N. Fuhrmann; M. Papke; S. Schaich; S. Tippmann; B. Bauma...nn; P. Barboni; A. Ghelli; L. Bucchi; R. Lodi; B. Barbiroli; R. Liguori; R. Carroccia; M. Villanova; P. Montagna; A. Baruzzi; B. Wissinger | 2007-01-01 | - | s.n | 4.02 Riassunto (Abstract) | - |
| Rare mtDNA Variants in Leber's Hereditary Optic Neuropathy Families with Recurrence of Myoclonus | C. La Morgia; A. Achilli; L. Iommarini; M. L. Valentino; P. Barboni; M. Pala; A. Olivieri; C. Ton...on; R. Lodi; R. Vetrugno; B. Mostacci; R. Liguori; R. Carroccia; M. Amadori; P. Montagna; A. Torroni; V. Carelli | 2007-01-01 | - | s.n | 4.02 Riassunto (Abstract) | - |
| 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) | - |
| Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations | Lodi R.; Tonon C.; Valentino M.L.; Manners D.; Testa C.; Malucelli E.; La Morgia C.; Barboni P.; ...Carbonelli M.; Schimpf S.; Wissinger B.; Zeviani M.; Baruzzi A.;Liguori R.; Barbiroli B.; Carelli V. | 2011-01-01 | ARCHIVES OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Diffusion Tensor Study Of Brain White Matter In OPA1-Dominant Optic Atrophy And Leber's Hereditary Optic Atrophy | Manners DN; Rizzo G; La Morgia C; Tonon C; Testa C; Barboni P; Malucelli E; Valentino ML; Carelli... V; Lodi R | 2013-01-01 | - | - | 4.03 Poster | - |
| Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. | Barboni P;Valentino ML;La Morgia C;Carbonelli M;Savini G;De Negri A;Simonelli F;Sadun F;Caporali ...L;Maresca A;Liguori R;Baruzzi A;Zeviani M;Carelli V | 2013-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. | Caporali L;Ghelli AM;Iommarini L;Maresca A;Valentino ML;La Morgia C;Liguori R;Zanna C;Barboni P;D...e Nardo V;Martinuzzi A;Rizzo G;Tonon C;Lodi R;Calvaruso MA;Cappelletti M;Porcelli AM;Achilli A;Pala M;Torroni A;Carelli V | 2013-01-01 | BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE | - | 1.01 Articolo in rivista | - |
| Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. | Giordano C;Iommarini L;Giordano L;Maresca A;Pisano A;Valentino ML;Caporali L;Liguori R;Deceglie S...;Roberti M;Fanelli F;Fracasso F;Ross-Cisneros FN;D'Adamo P;Hudson G;Pyle A;Yu-Wai-Man P;Chinnery PF;Zeviani M;Salomao SR;Berezovsky A;Belfort R Jr;Ventura DF;Moraes M;Moraes Filho M;Barboni P;Sadun F;De Negri A;Sadun AA;Tancredi A;Mancini M;d'Amati G;Loguercio Polosa P;Cantatore P;Carelli V | 2014-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. | Carossa V;Ghelli A;Tropeano CV;Valentino ML;Iommarini L;Maresca A;Caporali L;Morgia CL;Liguori R;...Barboni P;Carbonelli M;Rizzo G;Tonon C;Lodi R;Martinuzzi A;Nardo VD;Rugolo M;Ferretti L;Gandini F;Pala M;Achilli A;Olivieri A;Torroni A;Carelli V | 2014-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome (Scientific Reports, (2020), 10, 1, (4785), 10.1038/s41598-020-61735-3) | La Morgia C.; Maresca A.; Amore G.; Gramegna L.L.; Carbonelli M.; Scimonelli E.; Danese A.; Pater...gnani S.; Caporali L.; Tagliavini F.; Del Dotto V.; Capristo M.; Sadun F.; Barboni P.; Savini G.; Evangelisti S.; Bianchini C.; Valentino M.L.; Liguori R.; Tonon C.; Giorgi C.; Pinton P.; Lodi R.; Carelli V. | 2020-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | s41598-020-67203-2 (1).pdf |
| SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder | Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Aless...andra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E; Copeland, William C; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio | 2020-01-01 | THE JOURNAL OF CLINICAL INVESTIGATION | - | 1.01 Articolo in rivista | - |
| Inflammatory optic neuropathy following SARS-CoV-2 mRNA vaccine: Description of two cases | Valentina Barone; Federico Camilli; Michela Crisci; Cinzia Scandellari; Piero Barboni; Alessandra... Lugaresi | 2021-01-01 | JOURNAL OF THE NEUROLOGICAL SCIENCES | ELSEVIER | 4.02 Riassunto (Abstract) | - |
| Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy | Aleo S.J.; Del Dotto V.; Romagnoli M.; Fiorini C.; Capirossi G.; Peron C.; Maresca A.; Caporali L....; Capristo M.; Tropeano C.V.; Zanna C.; Ross-Cisneros F.N.; Sadun A.A.; Pignataro M.G.; Giordano C.; Fasano C.; Cavaliere A.; Porcelli A.M.; Tioli G.; Musiani F.; Catania A.; Lamperti C.; Marzoli S.B.; De Negri A.; Cascavilla M.L.; Battista M.; Barboni P.; Carbonelli M.; Amore G.; La Morgia C.; Smirnov D.; Vasilescu C.; Farzeen A.; Blickhaeuser B.; Prokisch H.; Priglinger C.; Livonius B.; Catarino C.B.; Klopstock T.; Tiranti V.; Carelli V.; Ghelli A.M. | 2024-01-01 | CELL REPORTS MEDICINE | - | 1.01 Articolo in rivista | 2024 - Aleo - Idebenone and NQO1 - Cell reports Medicine.pdf |
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