BARBONI, PIERO

BARBONI, PIERO  

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Titolo Autore(i) Anno Periodico Editore Tipo File
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 -
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 -
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) -
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 -
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 -
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 -
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) -
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) -
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 -
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 -