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humans (37) 37
ophthalmology (30) 30
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optic atrophy, hereditary, leber - genetics (17) 17
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1. Full Text The Tadpole Pupil: Case Series With Review of the Literature and New Considerations
by Udry, M and Kardon, RH and Sadun, F and Kawasaki, A
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 08/2019, Volume 10, p. 846
Tadpole pupil is a rare phenomenon in which segmental spasm of the iris dilator muscle results in a tadpole-shaped pupil. The pupillary distortion is usually... 
PROGESTERONE | SPASM | RECEPTOR | pupillary distortion | NEUROSCIENCES | Horner syndrome | CLINICAL NEUROLOGY | pupil | EYE | SMOOTH-MUSCLE | mydriasis | PETIT SYNDROME | POURFOUR | ESTROGEN | iris dilator muscle | tadpole pupil
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2. 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
Purpose To assess the peripapillary retinal nerve fiber and macular retinal ganglion cell (RGC) loss in patients with dominant optic atrophy (DOA) stratified... 
Ophthalmology | HEAD PARAMETERS | NEUROPATHY | NERVE-FIBER LAYER | DISEASE | SPECTRAL-DOMAIN OCT | OPHTHALMOLOGY | COHERENCE-TOMOGRAPHY | GLAUCOMA | THICKNESS | OPA1 MUTATIONS | AGE | 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
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3. 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, ISSN 0161-6420, 07/2019, Volume 126, Issue 7, pp. 1033 - 1044
To assess changes of retinal ganglion cells (RGCs) and visual pathways’ function in patients with Leber’s hereditary optic neuropathy (LHON) during 12 months... 
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4. Full Text Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy
by Achilli, A and Iommarini, L and Olivieri, A and Pala, M and Kashani, BH and Reynier, P and La Morgia, C and Valentino, ML and Liguori, R and Pizza, F and Barboni, P and Sadun, F and De Negri, AM and Zeviani, M and Dollfus, H and Moulignier, A and Ducos, G and Orssaud, C and Bonneau, D and Procaccio, V and Leo-Kottler, B and Fauser, S and Wissinger, B and Amati-Bonneau, P and Torroni, A and Carelli, V
PLOS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8, p. e42242
Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary... 
RESPIRATORY COMPLEX-I | SEQUENCE-ANALYSIS | PRIMARY LHON MUTATION | G14459A MUTATION | FAMILIES | DISEASE | BIOLOGY | ND6 GENE | HOT-SPOT | CLINICAL-FEATURES | MTDNA MUTATIONS | Amino Acid Sequence | Conserved Sequence - genetics | Species Specificity | Humans | Molecular Sequence Data | Optic Atrophy, Hereditary, Leber - genetics | Mitochondrial Proteins - genetics | Phylogeny | Mutation - genetics | Sequence Alignment | DNA, Mitochondrial - genetics | Polymorphism, Restriction Fragment Length | Base Sequence | Mitochondrial Proteins - chemistry | Family | Gene mutations | Questions and answers | Analysis | Genes | Genomics | Amino acids | Genetic aspects | Genomes | Mitochondrial DNA
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5. 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, L and Parisi, V and Giannini, D and Sadun, F and De Negri, AM and Barboni, P and La Morgia, C and Sadun, AA and Carelli, V
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, ISSN 0721-832X, 09/2015, Volume 253, Issue 9, pp. 1591 - 1600
To differentiate the bioelectrical cortical responses driven by axons from central and mid-peripheral retina in Leber's hereditary optic neuropathy (LHON) by... 
Leber's hereditary optic neuropathy | Multifocal visual evoked potentials | VISUAL-FIELD | Retinal ganglion cells function | LHON | OPHTHALMOLOGY | TOPOGRAPHY | DAMAGE | Mitochondrial optic neuropathy | 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
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6. 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, ISSN 0006-8950, 9/2011, Volume 134, Issue 9, pp. e188 - e188
PATIENT | NEUROSCIENCES | CLINICAL NEUROLOGY | MUTATION | Optic Atrophy, Hereditary, Leber - drug therapy | Antioxidants - therapeutic use | Humans | Ubiquinone - analogs & derivatives | Placebos | Ubiquinone - therapeutic use | Female | Male
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7. 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, ISSN 0006-8950, 2014, Volume 137, Issue 2, pp. 335 - 353
Leber's hereditary optic neuropathy is a maternally inherited blinding disease caused as a result of homoplasmic point mutations in complex I subunit genes of... 
mitochondrial biogenesis | mtDNA copy number | LHON penetrance | OXIDATIVE-PHOSPHORYLATION | GALACTOSE MEDIUM | PHENOTYPE | CARRIERS | NEUROSCIENCES | CLINICAL NEUROLOGY | RIBOSOMAL-RNA MUTATION | LARGE BRAZILIAN PEDIGREE | COMPLEX-I | DNA | COPY NUMBER | BLOOD-CELLS | 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
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8. 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, ISSN 0161-6420, 2010, Volume 117, Issue 8, pp. 1547 - 1553
Purpose To analyze the influence of OPA1 gene mutations on the optic nerve head (ONH) morphology in patients with dominant optic atrophy (DOA). Design... 
Ophthalmology | MITOCHONDRIAL FUSION | APOPTOSIS | OPEN-ANGLE GLAUCOMA | POLYMORPHISMS | GENE | NORMAL-TENSION | OPHTHALMOLOGY | DISK SIZE | CYTOCHROME-C RELEASE | EYE DEVELOPMENT | MORPHOLOGY | 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
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9. Full Text Reply
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, ISSN 0161-6420, 09/2018, Volume 125, Issue 9, pp. e63 - e63
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10. Full Text Reply
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, ISSN 0161-6420, 09/2018, Volume 125, Issue 9, p. e63
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11. Full Text Reply
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, ISSN 0161-6420, 09/2018, Volume 125, Issue 9, p. e63
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12. 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, ISSN 0161-6420, 07/2019, Volume 126, Issue 7, pp. 1033 - 1044
Purpose: To assess changes of retinal ganglion cells (RGCs) and visual pathways’ function in patients with Leber's hereditary optic neuropathy (LHON) during 12... 
RESPONSES | MULTIFOCAL VEP | OCULAR HYPERTENSION | NEURAL CONDUCTION | OPHTHALMOLOGY | GENE-THERAPY | DYSFUNCTION | ERG | PATTERN ELECTRORETINOGRAM | EVOKED-POTENTIALS | ALTERNATING GRATINGS
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13. Full Text Natural History of Conversion of Leber's Hereditary Optic Neuropathy
by Hwang, Tiffany Jean, BA and Karanjia, Rustum, MD, PhD and Moraes-Filho, Milton Nunes, MD and Gale, Jesse, MB ChB, FRANZCO and Tran, Jeffrey Show, BA and Chu, Edward R., MB BS and Salomao, Solange R., PhD and Berezovsky, Adriana, PhD and Belfort, Rubens, MD, PhD and Moraes, Milton Nunes, MD and Sadun, Federico, MD and DeNegri, Anna Maria, MD and La Morgia, Chiara, MD, PhD and Barboni, Piero, MD and Ramos, Carolina do V.F., MD, PhD and Chicani, Carlos Filipe, MD, PhD and Quiros, Peter A., MD and Carelli, Valerio, MD, PhD and Sadun, Alfredo A., MD, PhD
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, Issue 6, pp. 843 - 850
Purpose To illustrate the natural history of Leber's hereditary optic neuropathy (LHON). Design Prospective observational case series. Participants The... 
Ophthalmology | Medical colleges | Instructional materials industry
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14. 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, ISSN 0161-6420, 12/2017, Volume 124, Issue 12, pp. 1839 - 1848
To identify the most accurate diagnostic imaging modality for classifying pediatric eyes as papilledema (PE) or pseudopapilledema (PPE). Prospective... 
MILD PAPILLEDEMA | NERVE HEAD DRUSEN | OPTICAL COHERENCE TOMOGRAPHY | OPHTHALMOLOGY | FIBER LAYER | DISK DRUSEN | FLUORESCEIN | CHILDREN | 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
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15. Full Text Reply
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, ISSN 0161-6420, 03/2018, Volume 125, Issue 3, p. e24
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16. Full Text Reply
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, ISSN 0161-6420, 03/2018, Volume 125, Issue 3, pp. e24 - e24
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17. Full Text Reply
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, ISSN 0161-6420, 03/2018, Volume 125, Issue 3, pp. e24 - 390
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18. 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, ISSN 0039-9140, 03/2019, Volume 194, pp. 26 - 31
A newly modified electrode based on glassy carbon (GC) has been prepared and characterized electrochemically for application in electroanalytical chemistry. In... 
Nanostructured SPE | EVOO | Alcohol dehydrogenase | Lipase | Enzymatic biosensor | Ionic liquid | NANOPARTICLES | CHEMISTRY, ANALYTICAL | MODIFIED ELECTRODE | ALCOHOL-DEHYDROGENASE | ETHANOL | COMPOSITE | Alcohol Dehydrogenase - metabolism | Temperature | Nanoparticles - chemistry | Titanium - chemistry | Lipase - metabolism | Ionic Liquids - chemistry | Lipase - chemistry | Electrodes | Nanotubes, Carbon - chemistry | Surface Properties | Ethanol - analysis | Olive Oil - chemistry | Electrochemistry | Nanostructures - chemistry | Biosensing Techniques - instrumentation | Biosensing Techniques - methods | Antioxidants - analysis | Alcohol Dehydrogenase - chemistry | Index Medicus
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19. Full Text Accuracy of ultrasonography, fundus photography, autofluorescence (AF), fluorescein angiography (FA), and optical coherence tomography (OCT) in differentiating pseudopapilledema from true optic disk edema (ODE) in children
by Chang, Melinda and Velez, Federico and Demer, Joseph and Bonelli, Laura and Quiros, Peter and Arnold, Anthony and Sadun, Alfredo and Pineles, Stacy
Journal of AAPOS, ISSN 1091-8531, 08/2017, Volume 21, Issue 4, pp. e6 - e6
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20. Full Text Accuracy of ultrasonography, fundus photography, autofluorescence , and optical coherence tomography in differentiating pseudopapilledema from true optic disk edema in children
by Chang, Melinda and Velez, Federico and Demer, Joseph and Bonelli, Laura and Quiros, Peter and Arnold, Anthony and Sadun, Alfredo and Pineles, Stacy
Journal of AAPOS, ISSN 1091-8531, 08/2017, Volume 21, Issue 4, p. e6
Angiography | Ultrasound imaging | Fluorescein | Fluorescence
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