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Items: 1 to 20 of 268


Senior-Løken syndrome with IQCB1 mutation in Taiwan.

Yu PH, Kuo YR, Altmüller J, Hwang DY.

Kaohsiung J Med Sci. 2018 Oct;34(10):588-589. doi: 10.1016/j.kjms.2018.03.010. Epub 2018 Apr 19. No abstract available.


Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families.

Hussain S, Akhtar N, Qamar R, Khan N, Naeem M.

Iran J Kidney Dis. 2018 Jul;12(4):240-242.


Progress in Gene Therapy to Prevent Retinal Ganglion Cell Loss in Glaucoma and Leber's Hereditary Optic Neuropathy.

Ratican SE, Osborne A, Martin KR.

Neural Plast. 2018 May 2;2018:7108948. doi: 10.1155/2018/7108948. eCollection 2018. Review.


Retinal-chitosan Conjugates Effectively Deliver Active Chromophores to Retinal Photoreceptor Cells in Blind Mice and Dogs.

Gao S, Kahremany S, Zhang J, Jastrzebska B, Querubin J, Petersen-Jones SM, Palczewski K.

Mol Pharmacol. 2018 May;93(5):438-452. doi: 10.1124/mol.117.111294. Epub 2018 Feb 16.


Children with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study.

de Verdier K, Ulla E, Löfgren S, Fernell E.

Acta Ophthalmol. 2018 May;96(3):295-300. doi: 10.1111/aos.13631. Epub 2017 Nov 23.


Central retinal preservation in rdAc cats.

Minella AL, Occelli LM, Narfström K, Petersen-Jones SM.

Vet Ophthalmol. 2018 May;21(3):224-232. doi: 10.1111/vop.12495. Epub 2017 Aug 30.


Unique structural features of the AIPL1-FKBP domain that support prenyl lipid binding and underlie protein malfunction in blindness.

Yadav RP, Gakhar L, Yu L, Artemyev NO.

Proc Natl Acad Sci U S A. 2017 Aug 8;114(32):E6536-E6545. doi: 10.1073/pnas.1704782114. Epub 2017 Jul 24.


Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.

Charng J, Jacobson SG, Heon E, Roman AJ, McGuigan DB 3rd, Sheplock R, Kosyk MS, Swider M, Cideciyan AV.

Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3215-3224. doi: 10.1167/iovs.17-21909.


Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome.

Sergouniotis PI, Hadfield KD, Black GC.

JAMA Ophthalmol. 2016 Aug 11;134(8):e161299. doi: 10.1001/jamaophthalmol.2016.1299. Epub 2016 Aug 11. No abstract available.


Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?

Mackey DA, Kearns LS, Hewitt AW.

Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):253-5. doi: 10.1097/APO.0000000000000220. Review.


Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis.

Li S, Samardzija M, Yang Z, Grimm C, Jin M.

J Neurosci. 2016 May 25;36(21):5808-19. doi: 10.1523/JNEUROSCI.3857-15.2016.


Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

Parfitt DA, Lane A, Ramsden CM, Carr AJ, Munro PM, Jovanovic K, Schwarz N, Kanuga N, Muthiah MN, Hull S, Gallo JM, da Cruz L, Moore AT, Hardcastle AJ, Coffey PJ, Cheetham ME.

Cell Stem Cell. 2016 Jun 2;18(6):769-81. doi: 10.1016/j.stem.2016.03.021. Epub 2016 Apr 14.


In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.

Garanto A, Chung DC, Duijkers L, Corral-Serrano JC, Messchaert M, Xiao R, Bennett J, Vandenberghe LH, Collin RW.

Hum Mol Genet. 2016 Jun 15;25(12):2552-2563. Epub 2016 Apr 22.


[Senior Loken syndrome].

Jellouli M, Gargah T.

Pan Afr Med J. 2015 Oct 14;22:141. doi: 10.11604/pamj.2015.22.141.8042. eCollection 2015. French. No abstract available.


Let There Be Light: Gene and Cell Therapy for Blindness.

Dalkara D, Goureau O, Marazova K, Sahel JA.

Hum Gene Ther. 2016 Feb;27(2):134-47. doi: 10.1089/hum.2015.147. Review.


Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease.

Giacalone JC, Wiley LA, Burnight ER, Songstad AE, Mullins RF, Stone EM, Tucker BA.

Stem Cells Transl Med. 2016 Feb;5(2):132-40. doi: 10.5966/sctm.2015-0206. Epub 2015 Dec 18. Review.


"Visual" Cortex of Congenitally Blind Adults Responds to Syntactic Movement.

Lane C, Kanjlia S, Omaki A, Bedny M.

J Neurosci. 2015 Sep 16;35(37):12859-68. doi: 10.1523/JNEUROSCI.1256-15.2015.


Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.

Ellingford JM, Sergouniotis PI, Lennon R, Bhaskar S, Williams SG, Hillman KA, O'Sullivan J, Hall G, Ramsden SC, Lloyd IC, Woolf AS, Black GC.

Lancet. 2015 May 9;385(9980):1916. doi: 10.1016/S0140-6736(15)60496-2. No abstract available.


Dog models for blinding inherited retinal dystrophies.

Petersen-Jones SM, Komáromy AM.

Hum Gene Ther Clin Dev. 2015 Mar;26(1):15-26. doi: 10.1089/humc.2014.155. Epub 2015 Feb 11. Review.


Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK.

Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614.

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