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1. Full Text Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome
by La Morgia, Chiara and Maresca, Alessandra and Amore, Giulia and Gramegna, Laura Ludovica and Carbonelli, Michele and Scimonelli, Emanuela and Danese, Alberto and Patergnani, Simone and Caporali, Leonardo and Tagliavini, Francesca and Del Dotto, Valentina and Capristo, Mariantonietta and Sadun, Federico and Barboni, Piero and Savini, Giacomo and Evangelisti, Stefania and Bianchini, Claudio and Valentino, Maria Lucia and Liguori, Rocco and Tonon, Caterina and Giorgi, Carlotta and Pinton, Paolo and Lodi, Raffaele and Carelli, Valerio
Scientific reports, ISSN 2045-2322, 06/2020, Volume 10, Issue 1, pp. 10398 - 10398
Calcium | Mitochondria | Index Medicus
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2. Full Text The Tadpole Pupil: Case Series With Review of the Literature and New Considerations
by Udry, Morgane and Kardon, Randy H and Sadun, Federico and Kawasaki, Aki
Frontiers in neurology, ISSN 1664-2295, 08/2019, Volume 10
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | pupillary distortion | iris dilator muscle | mydriasis | Horner syndrome | pupil | tadpole pupil
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3. Full Text Biologically friendly room temperature ionic liquids and nanomaterials for the development of innovative enzymatic biosensors: Part II
by Zappi, Daniele and Gabriele, Serena and Gontrani, Lorenzo and Dini, Danilo and Sadun, Claudia and Marini, Federico and Antonelli, Marta Letizia
Talanta (Oxford), ISSN 0039-9140, 03/2019, Volume 194, pp. 26 - 31
Nanostructured SPE | EVOO | Alcohol dehydrogenase | Lipase | Enzymatic biosensor | Ionic liquid | Physical Sciences | Chemistry | Chemistry, Analytical | Science & Technology | Medical equipment | Usage | Electrical conductivity | Analysis | Nanotubes | Biosensors | Physiological apparatus | Electric properties | Alcohols | Index Medicus
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4. Full Text Early Macular Retinal Ganglion Cell Loss in Dominant Optic Atrophy: Genotype-Phenotype Correlation
by Barboni, Piero and Savini, Giacomo and Cascavilla, Maria Lucia and Caporali, Leonardo and Milesi, Jacopo and Borrelli, Enrico and La Morgia, Chiara and Valentino, Maria Lucia and Triolo, Giacinto and Lembo, Andrea and Carta, Arturo and De Negri, Annamaria and Sadun, Federico and Rizzo, Giovanni and Parisi, Vincenzo and Pierro, Luisa and Bianchi Marzoli, Stefania and Zeviani, Massimo and Sadun, Alfredo A and Bandello, Francesco and Carelli, Valerio
American journal of ophthalmology, ISSN 0002-9394, 2014, Volume 158, Issue 3, pp. 628 - 636.e3
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Cross-Sectional Studies | Follow-Up Studies | Cell Count | Humans | Middle Aged | Genetic Association Studies - methods | Male | Tomography, Optical Coherence - methods | Visual Acuity | Retinal Ganglion Cells - pathology | Young Adult | Time Factors | GTP Phosphohydrolases - genetics | Adolescent | Optic Atrophy, Autosomal Dominant - genetics | Adult | Female | Aged | Retrospective Studies | Mutation | Optic Atrophy, Autosomal Dominant - pathology | Child | Genetic aspects | Optic atrophy | Ganglion | Glaucoma | Genotype & phenotype | Disease | Colleges & universities | Standard deviation | Age | Index Medicus | Abridged Index Medicus
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5. Full Text Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber’s Hereditary Optic Neuropathy during One Year of Follow-up
by Parisi, Vincenzo and Ziccardi, Lucia and Sadun, Federico and De Negri, Anna Maria and La Morgia, Chiara and Barbano, Lucilla and Carelli, Valerio and Barboni, Piero
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 07/2019, Volume 126, Issue 7, pp. 1033 - 1044
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Electroretinography | Visual Pathways - physiology | Retinal Ganglion Cells - physiology | Evoked Potentials, Visual - physiology | Analysis of Variance | Humans | Middle Aged | Adult | Female | Male | Optic Atrophy, Hereditary, Leber - physiopathology | Case-Control Studies | Index Medicus
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6. Full Text Accuracy of Diagnostic Imaging Modalities for Classifying Pediatric Eyes as Papilledema Versus Pseudopapilledema
by Chang, Melinda Y and Velez, Federico G and Demer, Joseph L and Bonelli, Laura and Quiros, Peter A and Arnold, Anthony C and Sadun, Alfredo A and Pineles, Stacy L
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 12/2017, Volume 124, Issue 12, pp. 1839 - 1848
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Nerve Fibers - pathology | Optical Imaging | Papilledema - classification | Reproducibility of Results | Eye Diseases, Hereditary - diagnostic imaging | Prospective Studies | Tomography, Optical Coherence | Humans | Child, Preschool | Male | Papilledema - diagnostic imaging | Retinal Ganglion Cells - pathology | Diagnostic Imaging - methods | Photography | Multimodal Imaging | Optic Nerve Diseases - classification | Optic Nerve Diseases - diagnostic imaging | Adolescent | Ultrasonography | Eye Diseases, Hereditary - classification | Female | Child | Diagnostic Techniques, Ophthalmological | Fluorescein Angiography | Pediatrics | Diagnostic imaging | Index Medicus
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7. Full Text Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome
by La Morgia, Chiara and Maresca, Alessandra and Amore, Giulia and Gramegna, Laura Ludovica and Carbonelli, Michele and Scimonelli, Emanuela and Danese, Alberto and Patergnani, Simone and Caporali, Leonardo and Tagliavini, Francesca and Del Dotto, Valentina and Capristo, Mariantonietta and Sadun, Federico and Barboni, Piero and Savini, Giacomo and Evangelisti, Stefania and Bianchini, Claudio and Valentino, Maria Lucia and Liguori, Rocco and Tonon, Caterina and Giorgi, Carlotta and Pinton, Paolo and Lodi, Raffaele and Carelli, Valerio
Scientific reports, ISSN 2045-2322, 03/2020, Volume 10, Issue 1, pp. 4785 - 4785
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Loss of Function Mutation | Calcium - metabolism | Humans | Middle Aged | Endoplasmic Reticulum - metabolism | Male | Mutation, Missense | Wolfram Syndrome - genetics | Fibroblasts - ultrastructure | Young Adult | Wolfram Syndrome - etiology | Adult | Female | Child | Fibroblasts - metabolism | Lactic Acid | Membrane Proteins - genetics | Tomography, Optical Coherence | Wolfram Syndrome - metabolism | Mitochondria - metabolism | Biomarkers - blood | Mitochondria - pathology | Magnetic Resonance Imaging | Energy Metabolism | Adolescent | Wolfram Syndrome - diagnosis | Neuroimaging | Diabetes mellitus | Retina | Energy requirements | Calcium influx | Hereditary diseases | Atrophy | Magnetic resonance spectroscopy | Mitochondria | Missense mutation | Optic atrophy | Magnetic resonance imaging | Bioenergetics | Morphology | Phenotyping | Fibroblasts | Lactic acid | Endoplasmic reticulum | Calcium (reticular) | Index Medicus
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8. Full Text The Tadpole Pupil: Case Series With Review of the Literature and New Considerations
by Udry, Morgane and Kardon, Randy H and Sadun, Federico and Kawasaki, Aki
Frontiers in neurology, ISSN 1664-2295, 2019, Volume 10, p. 846
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9. Full Text Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy
by Giordano, Carla and Iommarini, Luisa and Giordano, Luca and Maresca, Alessandra and Pisano, Annalinda and Valentino, Maria Lucia and Caporali, Leonardo and Liguori, Rocco and Deceglie, Stefania and Roberti, Marina and Fanelli, Francesca and Fracasso, Flavio and Ross-Cisneros, Fred N and D'adamo, Pio and Hudson, Gavin and Pyle, Angela and Yu-Wai-Man, Patrick and Chinnery, Patrick F and Zeviani, Massimo and Salomao, Solange R and Berezovsky, Adriana and Belfort, Rubens and Ventura, Dora Fix and Moraes, Milton and Moraes Filho, Milton and Barboni, Piero and Sadun, Federico and De Negri, Annamaria and Sadun, Alfredo A and Tancredi, Andrea and Mancini, Massimiliano and D'amati, Giulia and Loguercio Polosa, Paola and Cantatore, Palmiro and Carelli, Valerio
Brain (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 2, pp. 335 - 353
mitochondrial biogenesis | mtDNA copy number | LHON penetrance | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction | Neurology | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Humans | Middle Aged | Male | Optic Atrophy, Hereditary, Leber - genetics | Penetrance | Young Adult | DNA, Mitochondrial - genetics | Pedigree | Adolescent | Aged, 80 and over | Adult | Female | Aged | Mitochondrial Turnover - genetics | Optic Atrophy, Hereditary, Leber - diagnosis | Index Medicus | Abridged Index Medicus | Original
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10. Full Text Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber’s hereditary optic neuropathy
by Ziccardi, Lucia and Parisi, Vincenzo and Giannini, Daniela and Sadun, Federico and De Negri, Anna Maria and Barboni, Piero and La Morgia, Chiara and Sadun, Alfedo A and Carelli, Valerio
Graefe's archive for clinical and experimental ophthalmology, ISSN 0721-832X, 9/2015, Volume 253, Issue 9, pp. 1591 - 1600
Medicine & Public Health | Multifocal visual evoked potentials | Retinal ganglion cells function | LHON | Leber’s hereditary optic neuropathy | Ophthalmology | Mitochondrial optic neuropathy | Life Sciences & Biomedicine | Science & Technology | Visual Fields - physiology | Retinal Diseases - diagnosis | Visual Pathways - physiopathology | Tomography, Optical Coherence | Humans | Middle Aged | Male | Neural Conduction - physiology | Retinal Ganglion Cells - pathology | Young Adult | Evoked Potentials, Visual - physiology | Axons - pathology | Adult | Female | Visual Field Tests | Optic Atrophy, Hereditary, Leber - diagnosis | Retinal Diseases - physiopathology | Optic Atrophy, Hereditary, Leber - physiopathology | Visual Acuity - physiology | Visual Cortex - physiopathology | Index Medicus
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11. Full Text Idebenone Treatment In Leber's Hereditary Optic Neuropathy
by Carelli, Valerio and La Morgia, Chiara and Valentino, Maria Lucia and Rizzo, Giovanni and Carbonelli, Michele and De Negri, Anna Maria and Sadun, Federico and Carta, Arturo and Guerriero, Silvana and Simonelli, Francesca and Sadun, Alfredo Arrigo and Aggarwal, Divya and Liguori, Rocco and Avoni, Patrizia and Baruzzi, Agostino and Zeviani, Massimo and Montagna, Pasquale and Barboni, Piero
Brain (London, England : 1878), ISSN 0006-8950, 9/2011, Volume 134, Issue 9, pp. e188 - e188
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Optic Atrophy, Hereditary, Leber - drug therapy | Antioxidants - therapeutic use | Humans | Ubiquinone - analogs & derivatives | Placebos | Ubiquinone - therapeutic use | Female | Male | Index Medicus | Abridged Index Medicus
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12. Full Text OPA1 Mutations Associated with Dominant Optic Atrophy Influence Optic Nerve Head Size
by Barboni, Piero, MD and Carbonelli, Michele, MD and Savini, Giacomo, MD and Foscarini, Beatrice, MD and Parisi, Vincenzo, MD and Valentino, Maria L., MD and Carta, Arturo, MD and Negri, Annamaria De, MD and Sadun, Federico, MD and Zeviani, Massimo, MD, PhD and Sadun, Alfredo A., MD, PhD and Schimpf, Simone, PhD and Wissinger, Bernd, PhD and Carelli, Valerio, MD, PhD
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2010, Volume 117, Issue 8, pp. 1547 - 1553
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Cross-Sectional Studies | Optic Atrophy, Autosomal Dominant - diagnosis | Tomography, Optical Coherence | Humans | Middle Aged | Male | Young Adult | GTP Phosphohydrolases - genetics | Pedigree | Adolescent | Optic Atrophy, Autosomal Dominant - genetics | Polymerase Chain Reaction | Adult | Female | Aged | Mutation | Child | Optic Disk - pathology | Genetic aspects | Optic atrophy | Gene mutations | Molecular genetics | Analysis | Index Medicus
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