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Mostrati risultati da 1 a 20 di 60
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.; Zeviani 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;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 2010-01-01 BRAIN - 1.01 Articolo 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 -
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance Leonardo Caporali;Carla Giordano;Luisa Iommarini;Alessandra Maresca;Pio D'adamo;Solange R. Salomao;Rubens Belfort;Alfredo Sadun;Valerio Carelli 2012-01-01 MITOCHONDRION - 1.06 Abstract 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 -
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;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 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 -
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 -
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 -
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 -
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 -
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) -
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 -
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
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-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
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated? Maresca, Alessandra; Zaffagnini, Mirko; Caporali, Leonardo; Carelli, Valerio; Zanna, Claudia 2015-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista Dna Methyltransferase 1 Mutations and Mitochondrial Pathology.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; Michela, Rugolo 2015-01-01 THE INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY - 1.01 Articolo in rivista -
'Behr syndrome' with OPA1 compound heterozygote mutations Carelli, Valerio; Sabatelli, Mario; Carrozzo, Rosalba; Rizza, Teresa; Schimpf, Simone; Wissinger, Bernd; Zanna, Claudia; Rugolo, Michela; La Morgia, Chiara; Caporali, Leonardo; Carbonelli, Michele; Barboni, Piero; Tonon, Caterina; Lodi, Raffaele; Bertini, Enrico 2015-01-01 BRAIN - 1.01 Articolo in rivista -
Mostrati risultati da 1 a 20 di 60
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