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cone dystrophy相关文献:
Progressive Cone Dystrophy and Cone-Rod Dystrophy.
Chiang BK, Tsang SH, Sharma T, Diaconita V.
Adv Exp Med Biol. 2025;1467:61-67. doi: 10.1007/978-3-031-72230-1_12.
PMID:40736814
Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR).
Tsang SH, Sharma T.
Adv Exp Med Biol. 2018;1085:53-60. doi: 10.1007/978-3-319-95046-4_12.
PMID:30578485
Endoplasmic reticulum stress: molecular mechanism and therapeutic targets.
Chen X, Shi C, He M, Xiong S, Xia X.
Signal Transduct Target Ther. 2023 Sep 15;8(1):352. doi: 10.1038/s41392-023-01570-w.
PMID:37709773
Cone dystrophy associated with autoimmune polyglandular syndrome type 1.
Badawi A, Magliyah M, Alabbasi O, AlAbdi L, Alkuraya FS, Schatz P, ALBalawi HB, Mura M.
Sci Rep. 2023 Jul 11;13(1):11223. doi: 10.1038/s41598-023-38419-9.
PMID:37433860
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Oh JK, Ryu J, Lima de Carvalho JR Jr, Levi SR, Lee W, Tsamis E, Greenstein VC, Mahajan VB, Allikmets R, Tsang SH.
Am J Ophthalmol. 2020 Oct;218:40-53. doi: 10.1016/j.ajo.2020.05.016. Epub 2020 May 21.
PMID:32445700
Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.
Esteves-Leandro J, Torres-Costa S, Estrela-Silva S, Santos-Silva R, Brandão E, Grangeia A, Fernandes S, Oliveira R, Falcão-Reis F, Rocha-Sousa A.
Eur J Ophthalmol. 2022 Jan;32(1):664-672. doi: 10.1177/11206721211000000. Epub 2021 Mar 11.
PMID:33706576
The cone dystrophies.
Simunovic MP, Moore AT.
Eye (Lond). 1998;12 ( Pt 3b):553-65. doi: 10.1038/eye.1998.145.
PMID:9775217
ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study.
Nassisi M, Coarelli G, Blanchard B, Dubec-Fleury C, Drine K, Kitic N, Sancho S, Hilab R, Tezenas du Montcel S, Junge C, Lane R, Arnold HM, Durr A, Audo I.
JAMA Ophthalmol. 2024 Apr 1;142(4):301-308. doi: 10.1001/jamaophthalmol.2024.0001.
PMID:38421662
Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15.
Hadalin V, Šuštar M, Volk M, Maver A, Sajovic J, Jarc-Vidmar M, Peterlin B, Hawlina M, Fakin A.
Genes (Basel). 2021 Mar 29;12(4):499. doi: 10.3390/genes12040499.
PMID:33805381
Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.
Ridgeway AR, Shortall C, Finnegan LK, Long R, Matthews E, Dockery A, Kopčić E, Whelan L, Kirk C, Silvestri G, Turner J, Keegan DJ, Millington-Ward S, Chadderton N, Duignan E, Kenna PF, Farrar GJ.
Genes (Basel). 2024 Dec 27;16(1):25. doi: 10.3390/genes16010025.
PMID:39858572
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