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Mostrati risultati da 1 a 20 di 409
Titolo Autore(i) Anno Periodico Editore Tipo File
Familial Unverricht-Lundborg disease: A clinical, neurophysiologic, and genetic study Parmeggiani Antonia; Lehesjoki A.-E.; Carelli V.; Posar A.; Santi A.; Santucci M.; Gobbi Giuseppe...; Pini Antonella; Giovanardi Rossi Paola. 1997-01-01 EPILEPSIA - 1.01 Articolo in rivista -
Severe defect of complex I-dependent ATP synthesis shapes the mitochondria-driven path of apoptotic cell death in Leber’s Hereditary Optic Neuropathy. Carelli V.; Ghelli A.; Baracca A.; Zanna C.; Sgarbi G.; Solaini G.; Lenaz G.; Rugolo M.; Martinuz...zi A. 2004-01-01 BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - 4.02 Riassunto (Abstract) -
ATP depletion and caspase independent death of cybrids bearing Leber's Hereditary Optic neuropathy MTDNA mutations incubated in galactose medium. A model for endonuclease G-mediated apoptosis A. Ghelli; C. Zanna; A.M. Porcelli; V. Carelli; M. Rugolo 2004-01-01 - Dipartimento Biologia Ev. SP. 4.02 Riassunto (Abstract) -
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 -
AIF and endonuclease G are involved in the caspase-indepenent death of cybrids with LHON mutations A.M.Porcelli; C. Zanna; A. Montanaro; V.Carelli; A.Ghelli; M.Rugolo 2004-01-01 - s.n 4.02 Riassunto (Abstract) -
Cell death of fibroblasts derived from patients with Leber’s hereditary optic neuropathy mtDNA mutations C.Zanna; A.M.Porcelli; A.Ghelli; V.Carelli; A.Martinuzzi; M.Rugolo 2004-01-01 - s.n 4.02 Riassunto (Abstract) -
Deficit of in vivo mitochondrial ATP production in patients with OPA1-related autosomal dominant optic atrophy. A 31P-MRS study of the skeletal muscle. R. Lodi; C. Tonon; S. Iotti; V. Clementi; E. Malucelli; M. Valentino; P. Barboni; L. Longanesi; B.... Wissinger; V. Carelli; B. Barbiroli 2004-01-01 - ISMRM 4.02 Riassunto (Abstract) -
Bioenergetic changes associated with the T8993G mutation of the mtDNA ATP6 gene. Baracca A.; Sgarbi G.; Lenaz G.; Carelli V.; Solaini G. 2004-01-01 BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - 4.02 Riassunto (Abstract) -
Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Sadun F.; De Negri A.M.; Carelli V.; Salomao S.R.; Berezovsky A.; Andrade R.; Moraes M.; Passos A....; Belfort R.; Bastos Da Rosa A.; Quiros P.; Sadun A.A. 2004-01-01 AMERICAN JOURNAL OF OPHTHALMOLOGY - 1.01 Articolo in rivista -
The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool. Achilli A.; Rengo C.; Magri C.; Battaglia V.; Olivieri A.; Scozzari R.; Cruciani F.; Zeviani M.; ...Briem M.; Carelli V.; Moral P.; Dugoujon J.M.; Roostalu U.; Loogvali E.L.; Kivisild T.; Bandelt H.J.; Richards M.; Villems R.; Santachiara-Benerecetti A.S.; Semino O.; Torroni A. 2004-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. Beretta S.; Mattavelli L.; Sala G.; Tremolizzo L.; Schapira A.H.; Martinuzzi A.; Carelli V.; Ferr...arese C. 2004-01-01 BRAIN - 1.01 Articolo in rivista -
Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy. Salomao S.R.; Berezovsky A.; Andrade R.E.; Belfort R.; Carelli V.; Sadun A.A. 2004-01-01 DOCUMENTA OPHTHALMOLOGICA - 1.01 Articolo in rivista -
Bioenergetics shapes cellular death pathways in Leber’s hereditary optic neuropathy: a model of mitochondrial neurodegeneration CARELLI V; RUGOLO M; SGARBI G; GHELLI A; ZANNA C; BARACCA A; LENAZ G; NAPOLI E; MARTINUZZI A; SOL...AINI G. 2004-01-01 BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - 1.01 Articolo in rivista -
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. BARBONI P; SAVINI G; PLAZZI G.; BELLAN M; VALENTINO ML; ZANINI M; MONTAGNA P; HIRANO M; CARELLI V. 2004-01-01 GRAEFE'S ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY - 1.01 Articolo in rivista -
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. LODI R; TONON C; VALENTINO ML; IOTTI S; CLEMENTI V; MALUCELLI E; BARBONI P; LONGANESI L; SCHIMPF ...S; WISSINGER B; BARUZZI A.; BARBIROLI B; CARELLI V. 2004-01-01 ANNALS OF NEUROLOGY - 1.01 Articolo in rivista -
Bioenergetics of mitochondrial diseases associated with mtDNA mutations. Lenaz G.; Baracca A.; Carelli V.; D'Aurelio M.; Sgarbi G.; Solaini G. 2004-01-01 BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - 1.01 Articolo in rivista -
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. MANCUSO M; FILOSTO M; BELLAN M; LIGUORI R; MONTAGNA P; BARUZZI A.; DIMAURO S; CARELLI V. 2004-01-01 NEUROLOGY - 1.01 Articolo in rivista -
Mitochondrial dysfunction as a cause of optic neuropathies Carelli V.; Ross-Cisneros F.N.; Sadun A.A. 2004-01-01 PROGRESS IN RETINAL AND EYE RESEARCH - 1.01 Articolo in rivista -
Leber’s hereditary optic neuropathy prevalent phenotype in a family segregating the G13042A/ND5 mtDNA point mutation. M.L. Valentino; P. Barboni; C. Rengo; A. Achilli; A. Torroni; C. Tonon; R. Lodi; B. Barbiroli; F.... Fortuna; P. Montagna; A. Baruzzi; V. Carelli. 2005-01-01 NEUROLOGY - 4.02 Riassunto (Abstract) -
Effect of energetic stress and the ceramide analogue C6-ceramide on thyroid oncocytoma cell lines A.M. Porcelli; A. Ghelli; L. Iommarini; M. Hoque; C. Zanna; V. Carelli; G. Romeo; M. Rugolo 2005-01-01 - Dipartimento di Biologia Ev. Sp. 4.02 Riassunto (Abstract) -
Mostrati risultati da 1 a 20 di 409
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