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complex hereditary optic neuropathy相关文献:
Mitochondrial Retinopathies.
Zeviani M, Carelli V.
Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210.
PMID:35008635
Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P.
Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5.
PMID:36813316
Coenzyme Q10 trapping in mitochondrial complex I underlies Leber's hereditary optic neuropathy.
Fuller JT 3rd, Barnes S, Sadun LA, Ajmera P, Alexandrova AN, Sadun AA.
Proc Natl Acad Sci U S A. 2023 Sep 26;120(39):e2304884120. doi: 10.1073/pnas.2304884120. Epub 2023 Sep 21.
PMID:37733737
A Diagnostic Approach to Spastic ataxia Syndromes.
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP.
Cerebellum. 2022 Dec;21(6):1073-1084. doi: 10.1007/s12311-021-01345-5. Epub 2021 Nov 15.
PMID:34782953
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.
J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267.
PMID:33465056
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A.
Pediatr Diabetes. 2015 Feb;16(1):1-9. doi: 10.1111/pedi.12223. Epub 2014 Oct 20.
PMID:25330715
[Leber's hereditary optic neuropathy].
Takai Y, Yamagami A, Ishikawa H.
Rinsho Shinkeigaku. 2024 May 24;64(5):326-332. doi: 10.5692/clinicalneurol.cn-001924. Epub 2024 Apr 20.
PMID:38644210
Clinical Overview of Leber Hereditary Optic Neuropathy.
Stramkauskaitė A, Povilaitytė I, Glebauskienė B, Liutkevičienė R.
Acta Med Litu. 2022;29(1):9-18. doi: 10.15388/Amed.2022.29.1.19. Epub 2022 Jun 29.
PMID:36061944
Leber Hereditary Optic Neuropathy-Light at the End of the Tunnel?
Kim US, Jurkute N, Yu-Wai-Man P.
Asia Pac J Ophthalmol (Phila). 2018 Jul-Aug;7(4):242-245. doi: 10.22608/APO.2018293. Epub 2018 Jul 15.
PMID:30008192
Idebenone for Leber's hereditary optic neuropathy.
Gueven N.
Drugs Today (Barc). 2016 Mar;52(3):173-81. doi: 10.1358/dot.2016.52.3.2463564.
PMID:27186591
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