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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
2011 Carelli V.; Schimpf S.; Fuhrmann N.; Valentino M.L.; Zanna C.; Iommarini L.; Papke M.; Schaich S.; Tippmann S.; Baumann B.; Barboni P.; Longanesi L.; Rugolo M.; Ghelli A.; Alavi M.V.; Youle R.J.; Bucchi L.; Carroccia R.; Giannoccaro M.P.; Tonon C.; Lodi R.; Cenacchi G.; Montagna P.; Liguori R.; Wissinger B.
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
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
Idebenone treatment in Leber's hereditary optic neuropathy.
2011 Carelli V.; La Morgia C.; Valentino M.L.; Rizzo G.; Carbonelli M.; De Negri A.M.; Sadun F.; Carta A.; Guerriero S.; Simonelli F.; Sadun A.A.; Aggarwal D.; Liguori R.; Avoni P.; Baruzzi A.; Zeviani M.; Montagna P.; Barboni P.
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy.
2012 G. Rizzo;K. R. Tozer;C. Tonon;D. Manners;C. Testa;E. Malucelli;M. L. Valentino;C. L. Morgia;P. Barboni;R. S. Randhawa;F. N. Ross-Cisneros;A. A. Sadun;V. Carelli;R. Lodi
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.
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy.
2012 Achilli A.; Iommarini L.; Olivieri A.; Pala M.; Hooshiar Kashani B.; Reynier P.; La Morgia C.; Valentino M.L.; Liguori R.; Pizza F.; Barboni P.; Sadun F.; De Negri A.M.; Zeviani M.; Dollfus H.; Moulignier A.; Ducos G.; Orssaud C.; Bonneau D.; Procaccio V.; Leo-Kottler B.; Fauser S.; Wissinger B.; Amati-Bonneau P.; Torroni A.; 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
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency.
2013 R. Liguori;M. P. Giannoccaro;E. Pasini;P. Riguzzi;M. L. Valentino;G. P. Comi;V. Carelli;N. Bresolin;R. Michelucci
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
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
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
2013 M. Mancuso;D. Orsucci;C. Angelini;E. Bertini;V. Carelli;G. P. Comi;C. Minetti;M. Moggio;T. Mongini;S. Servidei;P. Tonin;A. Toscano;G. Uziel;C. Bruno;E. C. Ienco;M. Filosto;C. Lamperti;D. Martinelli;I. Moroni;O. Musumeci;E. Pegoraro;D. Ronchi;F. M. Santorelli;D. Sauchelli;M. Scarpelli;M. Sciacco;M. Spinazzi;M. L. Valentino;L. Vercelli;M. Zeviani;G. Siciliano
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
2013 T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius; L. Crisponi; F. Cucca; R. Liguori; M. L. Valentino; M. Seri; V. Carelli
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
2013 Maresca A; la Morgia C; Caporali L; Valentino ML; Carelli V
Myoclonus in mitochondrial disorders
2014 Mancuso, M.; Orsucci, D.; Angelini, C.; Bertini, E.; Catteruccia, M.; Pegoraro, E.; Carelli, V.; Valentino, M.L.; Comi, G.P.; Minetti, C.; Bruno, C.; Moggio, M.; Ienco, E.C.; Mongini, T.; Vercelli, L.; Primiano, G.; Servidei, S.; Tonin, P.; Scarpelli, M.; Toscano, A.; Musumeci, O.; Moroni, I.; Uziel, G.; Santorelli, F.M.; Nesti, C.; Filosto, M.; Lamperti, C.; Zeviani, M.; Siciliano, G.
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.
2014 Pallotti F; Binelli G; Fabbri R; Valentino ML; Vicenti R; Macciocca M; Cevoli S; Baruzzi A; DiMauro S; 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.
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
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
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. | Carelli V.; Schimpf S.; Fuhrmann N.; Valentino M.L.; Zanna C.; Iommarini L.; Papke M.; Schaich S....; Tippmann S.; Baumann B.; Barboni P.; Longanesi L.; Rugolo M.; Ghelli A.; Alavi M.V.; Youle R.J.; Bucchi L.; Carroccia R.; Giannoccaro M.P.; Tonon C.; Lodi R.; Cenacchi G.; Montagna P.; Liguori R.; Wissinger B. | 2011-01-01 | HUMAN MOLECULAR GENETICS | - | 1.01 Articolo in rivista | - |
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) | - |
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) | - |
Idebenone treatment in Leber's hereditary optic neuropathy. | Carelli V.; La Morgia C.; Valentino M.L.; Rizzo G.; Carbonelli M.; De Negri A.M.; Sadun F.; Carta... A.; Guerriero S.; Simonelli F.; Sadun A.A.; Aggarwal D.; Liguori R.; Avoni P.; Baruzzi A.; Zeviani M.; Montagna P.; Barboni P. | 2011-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. | G. Rizzo;K. R. Tozer;C. Tonon;D. Manners;C. Testa;E. Malucelli;M. L. Valentino;C. L. Morgia;P. Ba...rboni;R. S. Randhawa;F. N. Ross-Cisneros;A. A. Sadun;V. Carelli;R. Lodi | 2012-01-01 | PLOS ONE | - | 1.01 Articolo in rivista | pone.0050230.pdf |
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 | - |
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. | Achilli A.; Iommarini L.; Olivieri A.; Pala M.; Hooshiar Kashani B.; Reynier P.; La Morgia C.; Va...lentino M.L.; Liguori R.; Pizza F.; Barboni P.; Sadun F.; De Negri A.M.; Zeviani M.; Dollfus H.; Moulignier A.; Ducos G.; Orssaud C.; Bonneau D.; Procaccio V.; Leo-Kottler B.; Fauser S.; Wissinger B.; Amati-Bonneau P.; Torroni A.; Carelli V. | 2012-01-01 | PLOS ONE | - | 1.01 Articolo in rivista | pone.0042242.pdf; pone.0042242.s001.pdf; pone.0042242.s002.pdf; pone.0042242.s003.pdf; pone.0042242.s004.pdf; pone.0042242.s005.pdf; pone.0042242.s006.pdf |
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 | - |
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. | R. Liguori;M. P. Giannoccaro;E. Pasini;P. Riguzzi;M. L. Valentino;G. P. Comi;V. Carelli;N. Bresol...in;R. Michelucci | 2013-01-01 | JOURNAL OF NEUROLOGY | - | 1.04 Replica / breve intervento (e simili) | - |
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 | - |
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 | - |
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. | M. Mancuso;D. Orsucci;C. Angelini;E. Bertini;V. Carelli;G. P. Comi;C. Minetti;M. Moggio;T. Mongin...i;S. Servidei;P. Tonin;A. Toscano;G. Uziel;C. Bruno;E. C. Ienco;M. Filosto;C. Lamperti;D. Martinelli;I. Moroni;O. Musumeci;E. Pegoraro;D. Ronchi;F. M. Santorelli;D. Sauchelli;M. Scarpelli;M. Sciacco;M. Spinazzi;M. L. Valentino;L. Vercelli;M. Zeviani;G. Siciliano | 2013-01-01 | NEUROLOGY | - | 1.01 Articolo in rivista | - |
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. |
T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius; L. Crisponi; F. Cucca; R. Liguor...i; M. L. Valentino; M. Seri; V. Carelli |
2013-01-01 | PLOS ONE | - | 1.01 Articolo in rivista | journal.pone.0082154.PDF |
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 | - |
Myoclonus in mitochondrial disorders | Mancuso, M.; Orsucci, D.; Angelini, C.; Bertini, E.; Catteruccia, M.; Pegoraro, E.; Carelli, V.; ...Valentino, M.L.; Comi, G.P.; Minetti, C.; Bruno, C.; Moggio, M.; Ienco, E.C.; Mongini, T.; Vercelli, L.; Primiano, G.; Servidei, S.; Tonin, P.; Scarpelli, M.; Toscano, A.; Musumeci, O.; Moroni, I.; Uziel, G.; Santorelli, F.M.; Nesti, C.; Filosto, M.; Lamperti, C.; Zeviani, M.; Siciliano, G. | 2014-01-01 | MOVEMENT DISORDERS | - | 1.01 Articolo in rivista | - |
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck. | Pallotti F; Binelli G; Fabbri R; Valentino ML; Vicenti R; Macciocca M; Cevoli S; Baruzzi A; DiMau...ro S; Carelli V. | 2014-01-01 | PLOS ONE | - | 1.01 Articolo in rivista | Pallotti et al 2014.pdf |
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 | - |
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 | - |
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 | - |
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