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Page 1
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M. Brown DA, et al. Nat Rev Cardiol. 2017 Apr;14(4):238-250. doi: 10.1038/nrcardio.2016.203. Epub 2016 Dec 22. Nat Rev Cardiol. 2017. PMID: 28004807 Free PMC article. Review.
Rhodopsin-mediated retinitis pigmentosa.
Malanson KM, Lem J. Malanson KM, et al. Prog Mol Biol Transl Sci. 2009;88:1-31. doi: 10.1016/S1877-1173(09)88001-0. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374723 Review.
Retinitis pigmentosa (RP) is a genetically and phenotypically heterogeneous group of diseases that cause blindness. ...
Retinitis pigmentosa (RP) is a genetically and phenotypically heterogeneous group of diseases that cause blindness. ...
Retinitis pigmentosa: visual function and multidisciplinary management.
Herse P. Herse P. Clin Exp Optom. 2005 Sep;88(5):335-50. doi: 10.1111/j.1444-0938.2005.tb06717.x. Clin Exp Optom. 2005. PMID: 16255692 Free article. Review.
Retinitis pigmentosa (RP) is a leading cause of blindness and visual disability in younger people. ...
Retinitis pigmentosa (RP) is a leading cause of blindness and visual disability in younger people. ...
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Nishide M, Le Marquand K, Davis MR, Halmágyi GM, Fellner A, Narayanan RK, Kennerson ML, Reddel SW, Worgan L, Panegyres PK, Kumar KR. Nishide M, et al. Cerebellum. 2024 Feb;23(1):268-277. doi: 10.1007/s12311-023-01522-8. Epub 2023 Jan 25. Cerebellum. 2024. PMID: 36696030 Free PMC article. Review.
We identified a total of 60 reported cases of SCA34 to date. The majority had gait ataxia (88.3%), limb ataxia (76.7%), dysarthria (63.3%), and nystagmus (58.3%). ...Other extracerebellar manifestations included pyramidal tract signs, autonomic disturbances, retinitis
We identified a total of 60 reported cases of SCA34 to date. The majority had gait ataxia (88.3%), limb ataxia (76.7%), dysarthria (6 …
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
Murga-Zamalloa CA, Swaroop A, Khanna H. Murga-Zamalloa CA, et al. J Genet. 2009 Dec;88(4):399-407. doi: 10.1007/s12041-009-0061-7. J Genet. 2009. PMID: 20090203 Free PMC article. Review.
The primary (or sensory) cilium of photoreceptors mediates polarized trafficking of proteins for efficient phototransduction. Retinitis pigmentosa GTPase regulator (RPGR) is a cilia-centrosomal protein mutated in >70% of X-linked RP cases and 10%-20% of simplex R …
The primary (or sensory) cilium of photoreceptors mediates polarized trafficking of proteins for efficient phototransduction. Retinitis
Induced pluripotent stem cells for retinal degenerative diseases: a new perspective on the challenges.
Jin ZB, Okamoto S, Mandai M, Takahashi M. Jin ZB, et al. J Genet. 2009 Dec;88(4):417-24. doi: 10.1007/s12041-009-0063-5. J Genet. 2009. PMID: 20090205 Free article. Review.
Retinal degenerative diseases, including age-related macular degeneration and retinitis pigmentosa, are the prodominant causes of human blindness in the world; however, these diseases are difficult to treat. ...
Retinal degenerative diseases, including age-related macular degeneration and retinitis pigmentosa, are the prodominant causes …
Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.
Ronquillo CC, Bernstein PS, Baehr W. Ronquillo CC, et al. Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres.2012.07.003. Epub 2012 Jul 20. Vision Res. 2012. PMID: 22819833 Free PMC article. Review.
Senior-Loken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis pigmentosa (RP)- or Leber congenital amaurosis (LCA)-like retinal dystrophy and a medullary cystic kidney disease, nephronophthisis. ...
Senior-Loken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis pigmentosa (RP)- or …
Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect.
Berson EL. Berson EL. Trans Am Ophthalmol Soc. 1990;88:355-88. Trans Am Ophthalmol Soc. 1990. PMID: 2095030 Free PMC article. Review.
Ocular findings are presented in 17 unrelated patients with a form of autosomal dominant retinitis pigmentosa and the same C to A transversion in codon 23 of the rhodopsin gene. ...This clinical heterogeneity among patients with the same mutation, with older patient …
Ocular findings are presented in 17 unrelated patients with a form of autosomal dominant retinitis pigmentosa and the same C t …