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complex hereditary optic neuropathy相关文献:
Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Chinnery PF.
2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301353
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
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
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
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
Treatment of Leber's Hereditary Optic Neuropathy.
Karanjia R, Chahal J, Ammar M, Sadun AA.
Curr Pharm Des. 2017;23(4):624-628. doi: 10.2174/1381612823666170125164856.
PMID:28128056
Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial DNA-Encoded Respiratory Complex I Subunits.
Bayona-Bafaluy P, Sanz-Pons J, Esteban O, Bueno-Borghi L, Ruiz-Pesini E.
Clin Genet. 2025 May;107(5):505-510. doi: 10.1111/cge.14683. Epub 2024 Dec 23.
PMID:39711423
Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.
Liang M, Ji Y, Zhang L, Wang X, Hu C, Zhang J, Zhu Y, Mo JQ, Guan MX.
Hum Mol Genet. 2022 Sep 29;31(19):3299-3312. doi: 10.1093/hmg/ddac109.
PMID:35567411
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
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