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hereditary macular dystrophy相关文献:
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Kaminska K, Cancellieri F, Quinodoz M, Moye AR, Bauwens M, Lin S, Janeschitz-Kriegl L, Hayman T, Barberán-Martínez P, Schlaeger R, Van den Broeck F, Ávila Fernández A, Fernández-Caballero L, Perea-Romero I, García-García G, Salom D, Mazzola P, Zuleger T, Poths K, Haack TB, Jacob J, Vermeer S, Terbeek F, Feltgen N, Moulin AP, Koutroumanou L, Papadakis G, Browning AC, Madhusudhan S, Gränse L, Banin E, Sousa AB, Coutinho Santos L, Kuehlewein L, De Angeli P, Leroy BP, Mahroo OA, Sedgwick F, Eden J, Pfau M, Andréasson S, Scholl HPN, Ayuso C, Millán JM, Sharon D, Tsilimbaris MK, Vaclavik V, Tran HV, Ben-Yosef T, De Baere E, Webster AR, Arno G, Sergouniotis PI, Kohl S, Santos C, Rivolta C.
Am J Hum Genet. 2025 Apr 3;112(4):808-828. doi: 10.1016/j.ajhg.2025.02.015. Epub 2025 Mar 12.
PMID:40081374
Occult macular dystrophy.
Miyake Y, Tsunoda K.
Jpn J Ophthalmol. 2015 Mar;59(2):71-80. doi: 10.1007/s10384-015-0371-7. Epub 2015 Feb 10.
PMID:25665791
Gene Therapy for Non-Hereditary Retinal Disease: Age-Related Macular Degeneration, Diabetic Retinopathy, and Beyond.
Rowe LW, Ciulla TA.
Genes (Basel). 2024 Jun 1;15(6):720. doi: 10.3390/genes15060720.
PMID:38927656
Hereditary hemorrhagic macular dystrophy.
Carr RE, Noble KG, Nasaduke I.
Am J Ophthalmol. 1978 Mar;85(3):318-28. doi: 10.1016/s0002-9394(14)77722-0.
PMID:655211
Occult macular dystrophy.
Miyake Y, Horiguchi M, Tomita N, Kondo M, Tanikawa A, Takahashi H, Suzuki S, Terasaki H.
Am J Ophthalmol. 1996 Nov;122(5):644-53. doi: 10.1016/s0002-9394(14)70482-9.
PMID:8909203
[Hereditary Macular Dystrophies].
Renner AB, Kellner U.
Klin Monbl Augenheilkd. 2016 Oct;233(10):1124-1141. doi: 10.1055/s-0042-100474. Epub 2016 Jul 6.
PMID:27385259
Laser-Induced Maculopathy Masquerading as Hereditary Macular Dystrophy.
Al Adel F, AlBloushi AF.
Middle East Afr J Ophthalmol. 2021 Dec 31;28(3):189-192. doi: 10.4103/meajo.meajo_234_21. eCollection 2021 Jul-Sep.
PMID:35125803
Best Vitelliform Macular Dystrophy.
Cheong J, Tsang SH, Sharma T, Diaconita V.
Adv Exp Med Biol. 2025;1467:169-170. doi: 10.1007/978-3-031-72230-1_29.
PMID:40736831
North Carolina Macular Dystrophy.
Diaz A, J Hartung K, Small K.
Adv Exp Med Biol. 2025;1467:115-117. doi: 10.1007/978-3-031-72230-1_21.
PMID:40736823
Stargardt macular dystrophy and evolving therapies.
Hussain RM, Ciulla TA, Berrocal AM, Gregori NZ, Flynn HW Jr, Lam BL.
Expert Opin Biol Ther. 2018 Oct;18(10):1049-1059. doi: 10.1080/14712598.2018.1513486. Epub 2018 Sep 10.
PMID:30129371
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