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127 results

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Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group. Yu-Wai-Man P, et al. Among authors: votruba m. Cell Rep Med. 2024 Mar 19;5(3):101437. doi: 10.1016/j.xcrm.2024.101437. Epub 2024 Feb 29. Cell Rep Med. 2024. PMID: 38428428 Free PMC article. Clinical Trial.
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.
Research priorities for mitochondrial disorders: Current landscape and patient and professional views.
Thomas RH, Hunter A, Butterworth L, Feeney C, Graves TD, Holmes S, Hossain P, Lowndes J, Sharpe J, Upadhyaya S, Varhaug KN, Votruba M, Wheeler R, Staley K, Rahman S. Thomas RH, et al. Among authors: votruba m. J Inherit Metab Dis. 2022 Jul;45(4):796-803. doi: 10.1002/jimd.12521. Epub 2022 May 31. J Inherit Metab Dis. 2022. PMID: 35543492 Free PMC article.
New avenues for therapy in mitochondrial optic neuropathies.
Ng WSV, Trigano M, Freeman T, Varrichio C, Kandaswamy DK, Newland B, Brancale A, Rozanowska M, Votruba M. Ng WSV, et al. Among authors: votruba m. Ther Adv Rare Dis. 2021 Jul 19;2:26330040211029037. doi: 10.1177/26330040211029037. eCollection 2021 Jan-Dec. Ther Adv Rare Dis. 2021. PMID: 37181108 Free PMC article. Review.
Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction.
Tribble JR, Otmani A, Sun S, Ellis SA, Cimaglia G, Vohra R, Jöe M, Lardner E, Venkataraman AP, Domínguez-Vicent A, Kokkali E, Rho S, Jóhannesson G, Burgess RW, Fuerst PG, Brautaset R, Kolko M, Morgan JE, Crowston JG, Votruba M, Williams PA. Tribble JR, et al. Among authors: votruba m. Redox Biol. 2021 Jul;43:101988. doi: 10.1016/j.redox.2021.101988. Epub 2021 Apr 24. Redox Biol. 2021. PMID: 33932867 Free PMC article.
127 results