檢索結果 - Valerio Carelli

Keeping in shape the dogma of mitochondrial DNA maternal inheritance. 由 Valerio Carelli

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Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve 由 Alessandra Maresca, Valerio Carelli

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Melanopsin Retinal Ganglion Cells and Pupil: Clinical Implications for Neuro-Ophthalmology 由 Chiara La Morgia, Chiara La Morgia, Valerio Carelli, Valerio Carelli, Michele Carbonelli

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Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer’s disease and other neurodegenerative disorders: a review 由 Martina Romagnoli, Giulia Amore, Pietro Avanzini, Valerio Carelli, Valerio Carelli, Chiara La Morgia, Chiara La Morgia

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Retinal Ganglion Cells and Circadian Rhythms in Alzheimer’s Disease, Parkinson’s Disease, and Beyond 由 Chiara La Morgia, Chiara La Morgia, Fred N. Ross-Cisneros, Alfredo A. Sadun, Alfredo A. Sadun, Valerio Carelli, Valerio Carelli

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Inhibition of mitochondrial function induces an integrated stress response in oligodendroglia 由 Jillian M. Silva, Alice Wong, Valerio Carelli, Gino A. Cortopassi

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Metformin may alter the course of Leber’s hereditary optic neuropathy: a case report 由 Shenoda Abd Elmaseh, Danielle A. Gauthier, Danielle A. Gauthier, Maryam Golmohammadi, Maryam Golmohammadi, Nutsa Pargalava, Valerio Carelli, Valerio Carelli, Alfredo A. Sadun, Alfredo A. Sadun

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Late-onset Leber’s hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link? 由 Giulia Amore, Giulia Amore, Michele Carbonelli, Diego D’Angeli, Luigi Bonan, Marco Faustini-Fustini, Alessandra Maresca, Valerio Carelli, Valerio Carelli, Chiara La Morgia, Chiara La Morgia

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New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/<i>MT-ND4</i> Mutation Associated with Leber’s Hereditary Optic Neuropathy 由 Francesco Musiani, Laura Rigobello, Luisa Iommarini, Valerio Carelli, Mauro Degli Esposti, Anna Maria Ghelli

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Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene 由 Rosamaria Santarelli, Pietro Scimemi, Chiara La Morgia, Elona Cama, Ignacio del Castillo, Valerio Carelli

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Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy 由 Rosamaria Santarelli, Rosamaria Santarelli, Rosamaria Santarelli, Chiara La Morgia, Chiara La Morgia, Maria Lucia Valentino, Maria Lucia Valentino, Piero Barboni, Anna Monteleone, Pietro Scimemi, Pietro Scimemi, Pietro Scimemi, Valerio Carelli, Valerio Carelli

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Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review 由 Leonardo Affronte, Leonardo Affronte, Antonella Pini, Claudia Pizzoli, Emanuele Coccia, Serena Mazzone, Arber Golemi, Melania Giannotta, Duccio Maria Cordelli, Duccio Maria Cordelli, Valerio Carelli, Valerio Carelli, Alessandro Vaisfeld, Alessandro Vaisfeld, Flavia Palombo

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The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report 由 Veria Vacchiano, Flavia Palombo, Danara Ormanbekova, Claudio Fiorini, Alessia Fiorentino, Leonardo Caporali, Leonardo Caporali, Andrea Mastrangelo, Maria Lucia Valentino, Maria Lucia Valentino, Sabina Capellari, Sabina Capellari, Rocco Liguori, Rocco Liguori, Valerio Carelli, Valerio Carelli

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Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy 由 Martina Romagnoli, Chiara La Morgia, Michele Carbonelli, Lidia Di Vito, Giulia Amore, Corrado Zenesini, Maria Lucia Cascavilla, Piero Barboni, Valerio Carelli

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Unsupervised Clustering of Optical Coherence Tomography Data in Patients with Leber Hereditary Optic Neuropathy using Non-Negative Matrix Factorization and K-Means: A Comparison 由 Martina Romagnoli, Michele Carbonelli, Giulia Amore, Victoria Lee Caporali, Claudio Fiorini, Piero Barboni, Annarita Vestri, Luigi Palla, Valerio Carelli, Chiara La Morgia

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Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families 由 Muhammad Yasin, Laura Licchetta, Niamat Khan, Irfan Ullah, Zakir Jan, Muhammad Dawood, Asif Naveed Ahmed, Arfa Azeem, Raffaella Minardi, Valerio Carelli, Shamim Saleha

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Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys 由 Mariantonietta Capristo, Valentina Del Dotto, Concetta Valentina Tropeano, Claudio Fiorini, Leonardo Caporali, Chiara La Morgia, Maria Lucia Valentino, Monica Montopoli, Valerio Carelli, Alessandra Maresca

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The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity. 由 Anna Ghelli, Anna Maria Porcelli, Claudia Zanna, Sara Vidoni, Stefano Mattioli, Anna Barbieri, Luisa Iommarini, Maria Pala, Alessandro Achilli, Antonio Torroni, Michela Rugolo, Valerio Carelli

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Methyl carbamates of phosphatidylethanolamines and phosphatidylserines reveal bacterial contamination in mitochondrial lipid extracts of mouse embryonic fibroblasts 由 Andrea Castellaneta, Vito Porcelli, Ilario Losito, Serena Barile, Alessandra Maresca, Valentina Del Dotto, Ludovica Sofia Guadalupi, Cosima Damiana Calvano, Valerio Carelli, Luigi Palmieri, Tommaso R. I. Cataldi

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Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A 由 Camille Peron, Andrea Cavaliere, Chiara Fasano, Angelo Iannielli, Manuela Spagnolo, Andrea Legati, Maria Nicol Colombo, Ambra Rizzo, Francesca L. Sciacca, Valerio Carelli, Vania Broccoli, Costanza Lamperti, Valeria Tiranti

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