Sfoglia per Autore
Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil
2009 Capodicasa S.; Fedi S.; Carnevali M.; Caporali L.; Viti C.; Fava F.; Zannoni D.
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.
2010 Hudson G.; Yu-Wai-Man P.; Griffiths P.G.; Caporali L.; Salomao S.S.; Berezovsky A.; Carelli V.; Zeviani M.; Chinnery P.F.
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
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance
2012 Leonardo Caporali;Carla Giordano;Luisa Iommarini;Alessandra Maresca;Pio D'adamo;Solange R. Salomao;Rubens Belfort;Alfredo Sadun;Valerio Carelli
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies
2012 Iommarini L.; Maresca A.; Caporali L.; Valentino M.L.; Liguori R.; Giordano C.; Carelli V.
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number
2013 Gianluca Marucci;Alessandra Maresca;Leonardo Caporali;Anna Farnedi;Christine Margaret Betts;Luca Morandi;Dario de Biase;Serenella Cerasoli;Maria Pia Foschini;Elena Bonora;Michele Vidone;Giovanni Romeo;Elena Perli;Carla Giordano;Giulia d'Amati;Giuseppe Gasparre;Agostino Baruzzi;Valerio Carelli;Vincenzo Eusebi
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
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
2013 Maresca A; la Morgia C; Caporali L; Valentino ML; Carelli V
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
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions
2014 C. La Morgia; L. Caporali; F. Gandini; A. Olivieri; F. Toni; S. Nassetti; D. Brunetto; C. Stipa; C. Scaduto; A. Parmeggiani; C. Tonon; R. Lodi; A. Torroni; V. Carelli
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations
2014 Maresca A; Zanna C; Del Dotto V; Caporali L; Moghadam KK; Pizza F; La Morgia C; Melberg A; Mignot E; Plazzi G; 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
HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency
2014 Mohamed, Susan; Caporali, Leonardo; De Giorgio, Roberto; Carelli, Valerio; Contin, Manuela
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
Genetic Basis of Mitochondrial Optic Neuropathies.
2014 Maresca A;Caporali L;Strobbe D;Zanna C;Malavolta D;La Morgia C;Valentino ML;Carelli V
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation
2014 Barboni, P.; Savini, G.; Cascavilla, M.L.; Caporali, L.; Milesi, J.; Borrelli, E.; La Morgia, C.; Valentino, M.L.; Triolo, G.; Lembo, A.; Carta, A.; De Negri, A.; Sadun, F.; Rizzo, G.; Parisi, V.; Pierro, L.; Bianchi Marzoli, S.; Zeviani, M.; Sadun, A.A.; Bandello, F.; Carelli, V.
Syndromic parkinsonism and dementia associated with OPA1 missense mutations
2015 Carelli, V.; Musumeci, O.; Caporali, L.; Zanna, C.; La Morgia, C.; Del Dotto, V.; Porcelli, A.M.; Rugolo, M.; Valentino, M.L.; Iommarini, L.; Maresca, A.; Barboni, P.; Carbonelli, M.; Trombetta, C.; Valente, E.M.; Patergnani, S.; Giorgi, C.; Pinton, P.; Rizzo, G.; Tonon, C.; Lodi, R.; Avoni, P.; Liguori, R.; Baruzzi, A.; Toscano, A.; Zeviani, M.
Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations
2015 Valerio, Carelli; Alessandra, Maresca; Leonardo, Caporali; Selena, Trifunov; Claudia, Zanna; Michela, Rugolo
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies
2015 Manners, D.N.; Rizzo, G.; La Morgia, C.; Tonon, C.; Testa, C.; Barboni, P.; Malucelli, E.; Valentino, M.L.; Caporali, L.; Strobbe, D.; Carelli, V.; Lodi, R.
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.
2015 R. Santarelli;R. Rossi;P. Scimemi;E. Cama;M. L. Valentino;C. L. Morgia;L. Caporali;R. Liguori;V. Magnavita;A. Monteleone;A. Biscaro;E. Arslan;V. Carelli
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil | Capodicasa S.; Fedi S.; Carnevali M.; Caporali L.; Viti C.; Fava F.; Zannoni D. | 2009-01-01 | RESEARCH IN MICROBIOLOGY | - | 1.01 Articolo in rivista | - |
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. | Hudson G.; Yu-Wai-Man P.; Griffiths P.G.; Caporali L.; Salomao S.S.; Berezovsky A.; Carelli V.; Z...eviani M.; Chinnery P.F. | 2010-01-01 | MOLECULAR VISION | - | 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 | - |
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance | Leonardo Caporali;Carla Giordano;Luisa Iommarini;Alessandra Maresca;Pio D'adamo;Solange R. Saloma...o;Rubens Belfort;Alfredo Sadun;Valerio Carelli | 2012-01-01 | MITOCHONDRION | - | 1.06 Abstract in rivista | - |
Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies | Iommarini L.; Maresca A.; Caporali L.; Valentino M.L.; Liguori R.; Giordano C.; Carelli V. | 2012-01-01 | NEUROLOGY | - | 1.01 Articolo in rivista | - |
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number | Gianluca Marucci;Alessandra Maresca;Leonardo Caporali;Anna Farnedi;Christine Margaret Betts;Luca ...Morandi;Dario de Biase;Serenella Cerasoli;Maria Pia Foschini;Elena Bonora;Michele Vidone;Giovanni Romeo;Elena Perli;Carla Giordano;Giulia d'Amati;Giuseppe Gasparre;Agostino Baruzzi;Valerio Carelli;Vincenzo Eusebi | 2013-01-01 | HUMAN PATHOLOGY | - | 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 | - |
The optic nerve: a "mito-window" on mitochondrial neurodegeneration. | Maresca A; la Morgia C; Caporali L; Valentino ML; Carelli V | 2013-01-01 | MOLECULAR AND CELLULAR NEUROSCIENCES | - | 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 | - |
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions |
C. La Morgia; L. Caporali; F. Gandini; A. Olivieri; F. Toni; S. Nassetti; D. Brunetto; C. Stipa;... C. Scaduto; A. Parmeggiani; C. Tonon; R. Lodi; A. Torroni; V. Carelli |
2014-01-01 | BMC NEUROLOGY | - | 1.01 Articolo in rivista | 1471-2377-14-116.pdf |
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations | Maresca A; Zanna C; Del Dotto V; Caporali L; Moghadam KK; Pizza F; La Morgia C; Melberg A; Mignot... E; Plazzi G; Carelli V | 2014-01-01 | - | - | 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 | - |
HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency | Mohamed, Susan; Caporali, Leonardo; De Giorgio, Roberto; Carelli, Valerio; Contin, Manuela | 2014-01-01 | JOURNAL OF CHROMATOGRAPHY. B | - | 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 | - |
Genetic Basis of Mitochondrial Optic Neuropathies. | Maresca A;Caporali L;Strobbe D;Zanna C;Malavolta D;La Morgia C;Valentino ML;Carelli V | 2014-01-01 | CURRENT MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | - |
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation | Barboni, P.; Savini, G.; Cascavilla, M.L.; Caporali, L.; Milesi, J.; Borrelli, E.; La Morgia, C.;... Valentino, M.L.; Triolo, G.; Lembo, A.; Carta, A.; De Negri, A.; Sadun, F.; Rizzo, G.; Parisi, V.; Pierro, L.; Bianchi Marzoli, S.; Zeviani, M.; Sadun, A.A.; Bandello, F.; Carelli, V. | 2014-01-01 | AMERICAN JOURNAL OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
Syndromic parkinsonism and dementia associated with OPA1 missense mutations | Carelli, V.; Musumeci, O.; Caporali, L.; Zanna, C.; La Morgia, C.; Del Dotto, V.; Porcelli, A.M.;... Rugolo, M.; Valentino, M.L.; Iommarini, L.; Maresca, A.; Barboni, P.; Carbonelli, M.; Trombetta, C.; Valente, E.M.; Patergnani, S.; Giorgi, C.; Pinton, P.; Rizzo, G.; Tonon, C.; Lodi, R.; Avoni, P.; Liguori, R.; Baruzzi, A.; Toscano, A.; Zeviani, M. | 2015-01-01 | ANNALS OF NEUROLOGY | - | 1.01 Articolo in rivista | ana.24410.pdf |
Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations | Valerio, Carelli; Alessandra, Maresca; Leonardo, Caporali; Selena, Trifunov; Claudia, Zanna; Mich...ela, Rugolo | 2015-01-01 | THE INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY | - | 1.01 Articolo in rivista | - |
Diffusion tensor imaging mapping of brain white matter pathology in mitochondrial optic neuropathies | Manners, D.N.; Rizzo, G.; La Morgia, C.; Tonon, C.; Testa, C.; Barboni, P.; Malucelli, E.; Valent...ino, M.L.; Caporali, L.; Strobbe, D.; Carelli, V.; Lodi, R. | 2015-01-01 | AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY | - | 1.01 Articolo in rivista | - |
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. | R. Santarelli;R. Rossi;P. Scimemi;E. Cama;M. L. Valentino;C. L. Morgia;L. Caporali;R. Liguori;V. ...Magnavita;A. Monteleone;A. Biscaro;E. Arslan;V. Carelli | 2015-01-01 | BRAIN | - | 1.01 Articolo in rivista | awu378.pdf |
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