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Page 1
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: catarino cb. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Repp BM, et al. Among authors: catarino cb. Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. Orphanet J Rare Dis. 2018. PMID: 30025539 Free PMC article.
Charles Bonnet syndrome in Leber's hereditary optic neuropathy.
Kolarova H, Catarino CB, Priglinger C, Klopstock T. Kolarova H, et al. Among authors: catarino cb. J Neurol. 2019 Mar;266(3):777-779. doi: 10.1007/s00415-019-09205-3. Epub 2019 Jan 28. J Neurol. 2019. PMID: 30687896 No abstract available.
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
Catarino CB, von Livonius B, Priglinger C, Banik R, Matloob S, Tamhankar MA, Castillo L, Friedburg C, Halfpenny CA, Lincoln JA, Traber GL, Acaroglu G, Black GCM, Doncel C, Fraser CL, Jakubaszko J, Landau K, Langenegger SJ, Muñoz-Negrete FJ, Newman NJ, Poulton J, Scoppettuolo E, Subramanian P, Toosy AT, Vidal M, Vincent AL, Votruba M, Zarowski M, Zermansky A, Lob F, Rudolph G, Mikazans O, Silva M, Llòria X, Metz G, Klopstock T. Catarino CB, et al. J Neuroophthalmol. 2020 Dec;40(4):558-565. doi: 10.1097/WNO.0000000000001023. J Neuroophthalmol. 2020. PMID: 32991388 Free PMC article. Clinical Trial.
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group. Newman NJ, et al. Ophthalmology. 2021 May;128(5):649-660. doi: 10.1016/j.ophtha.2020.12.012. Epub 2021 Jan 12. Ophthalmology. 2021. PMID: 33451738 Free article. Clinical Trial.
54 results