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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 Jun 3;147(6):1967-1974. doi: 10.1093/brain/awae057. Brain. 2024. PMID: 38478578 Free PMC article.
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 Jul;101:101264. doi: 10.1016/j.preteyeres.2024.101264. Epub 2024 May 3. Prog Retin Eye Res. 2024. PMID: 38703886 Review.
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Newman NJ, Biousse V, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Degli Esposti S, La Morgia C, Priglinger C, Karanja R, Taiel M, Sahel JA; LHON Study Group. Yu-Wai-Man P, et al. Among authors: sadun aa. JAMA Ophthalmol. 2024 Dec 19. doi: 10.1001/jamaophthalmol.2024.5375. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 39699886
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.
Retinal ganglion cell vulnerability to pathogenic tau in Alzheimer's disease.
Davis MR, Robinson E, Koronyo Y, Salobrar-Garcia E, Rentsendorj A, Gaire BP, Mirzaei N, Kayed R, Sadun AA, Ljubimov AV, Schneider LS, Hawes D, Black KL, Fuchs DT, Koronyo-Hamaoui M. Davis MR, et al. Among authors: sadun aa. bioRxiv [Preprint]. 2024 Sep 21:2024.09.17.613293. doi: 10.1101/2024.09.17.613293. bioRxiv. 2024. PMID: 39345568 Free PMC article. Preprint.
Alzheimer's disease pathophysiology in the Retina.
Gaire BP, Koronyo Y, Fuchs DT, Shi H, Rentsendorj A, Danziger R, Vit JP, 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 Jul;101:101273. doi: 10.1016/j.preteyeres.2024.101273. Epub 2024 May 15. Prog Retin Eye Res. 2024. PMID: 38759947 Free article. Review.
351 results