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347 results

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Page 1
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Aleo SJ, et al. Among authors: sadun aa. Cell Rep Med. 2024 Feb 20;5(2):101383. doi: 10.1016/j.xcrm.2023.101383. Epub 2024 Jan 24. Cell Rep Med. 2024. PMID: 38272025 Free PMC article.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Among authors: sadun aa. Brain. 2024 Mar 13:awae057. doi: 10.1093/brain/awae057. Online ahead of print. Brain. 2024. PMID: 38478578
Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management.
Borrelli E, Bandello F, Boon CJF, Carelli V, Lenaers G, Reibaldi M, Sadda SR, Sadun AA, Sarraf D, Yu-Wai-Man P, Barboni P. Borrelli E, et al. Among authors: sadun aa. Prog Retin Eye Res. 2024 May 3;101:101264. doi: 10.1016/j.preteyeres.2024.101264. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 38703886 Review.
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:. Karaa A, et al. J Inherit Metab Dis. 2017 May;40(3):403-414. doi: 10.1007/s10545-017-0035-5. Epub 2017 Mar 16. J Inherit Metab Dis. 2017. PMID: 28303425 Free PMC article.
Alzheimer's Disease Pathophysiology in the Retina.
Gaire BP, Koronyo Y, Fuchs DT, Shi H, Rentsendorj A, Danziger R, Vit JS, Mirzaei N, Doustar J, Sheyn J, Hampel H, Vergallo A, Davis MR, Jallow O, Baldacci F, Verdooner SR, Barron E, Mirzaei M, Gupta VK, Graham SL, Tayebi M, Carare RO, Sadun AA, Miller CA, Dumitrascu OM, Lahiri S, Gao L, Black KL, Koronyo-Hamaoui M. Gaire BP, et al. Among authors: sadun aa. Prog Retin Eye Res. 2024 May 15:101273. doi: 10.1016/j.preteyeres.2024.101273. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 38759947 Review.
Does Wilbrand's Knee Exist?
Shin RK, Sadun AA, Lee AG, Van Stavern GP. Shin RK, et al. Among authors: sadun aa. J Neuroophthalmol. 2024 Mar 1;44(1):125-128. doi: 10.1097/WNO.0000000000002071. Epub 2024 Jan 3. J Neuroophthalmol. 2024. PMID: 38170604 No abstract available.
347 results