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Items: 1 to 20 of 97


A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.

Carrigan M, Duignan E, Humphries P, Palfi A, Kenna PF, Farrar GJ.

Br J Ophthalmol. 2015 Oct 15. pii: bjophthalmol-2015-306939. doi: 10.1136/bjophthalmol-2015-306939. [Epub ahead of print]


Gene expression changes during retinal development and rod specification.

Mansergh FC, Carrigan M, Hokamp K, Farrar GJ.

Mol Vis. 2015 Jan 20;21:61-87. eCollection 2015.


Low-valent chemistry: an alternative approach to phosphorus-containing oligomers.

Kosnik SC, Farrar GJ, Norton EL, Cooper BF, Ellis BD, Macdonald CL.

Inorg Chem. 2014 Dec 15;53(24):13061-9. doi: 10.1021/ic502229w. Epub 2014 Dec 1.


Gene therapies for inherited retinal disorders.

Farrar GJ, Millington-Ward S, Chadderton N, Mansergh FC, Palfi A.

Vis Neurosci. 2014 Sep;31(4-5):289-307. doi: 10.1017/S0952523814000133. Epub 2014 Jun 20. Review.


Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy.

Mansergh FC, Chadderton N, Kenna PF, Gobbo OL, Farrar GJ.

Eur J Hum Genet. 2014 Nov;22(11):1314-20. doi: 10.1038/ejhg.2014.26. Epub 2014 Feb 26.


Effective delivery of large genes to the retina by dual AAV vectors.

Trapani I, Colella P, Sommella A, Iodice C, Cesi G, de Simone S, Marrocco E, Rossi S, Giunti M, Palfi A, Farrar GJ, Polishchuk R, Auricchio A.

EMBO Mol Med. 2014 Feb;6(2):194-211. doi: 10.1002/emmm.201302948. Epub 2013 Dec 15.


CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression.

Egan CM, Nyman U, Skotte J, Streubel G, Turner S, O'Connell DJ, Rraklli V, Dolan MJ, Chadderton N, Hansen K, Farrar GJ, Helin K, Holmberg J, Bracken AP.

Dev Cell. 2013 Aug 12;26(3):223-36. doi: 10.1016/j.devcel.2013.07.008.


Mitochondrial disorders: aetiologies, models systems, and candidate therapies.

Farrar GJ, Chadderton N, Kenna PF, Millington-Ward S.

Trends Genet. 2013 Aug;29(8):488-97. doi: 10.1016/j.tig.2013.05.005. Epub 2013 Jun 4. Review.


A mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa.

Morgan CP, Allen DS, Millington-Ward S, O'Dwyer GE, Palfi A, Farrar GJ.

J Invest Dermatol. 2013 Dec;133(12):2793-6. doi: 10.1038/jid.2013.241. Epub 2013 Jun 6. No abstract available.


Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy.

Chadderton N, Palfi A, Millington-Ward S, Gobbo O, Overlack N, Carrigan M, O'Reilly M, Campbell M, Ehrhardt C, Wolfrum U, Humphries P, Kenna PF, Farrar GJ.

Eur J Hum Genet. 2013 Jan;21(1):62-8. doi: 10.1038/ejhg.2012.112. Epub 2012 Jun 6.


Efficacy of codelivery of dual AAV2/5 vectors in the murine retina and hippocampus.

Palfi A, Chadderton N, McKee AG, Blanco Fernandez A, Humphries P, Kenna PF, Farrar GJ.

Hum Gene Ther. 2012 Aug;23(8):847-58. doi: 10.1089/hum.2011.142. Epub 2012 Jul 20.


NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components.

Doyle SL, Campbell M, Ozaki E, Salomon RG, Mori A, Kenna PF, Farrar GJ, Kiang AS, Humphries MM, Lavelle EC, O'Neill LA, Hollyfield JG, Humphries P.

Nat Med. 2012 May;18(5):791-8. doi: 10.1038/nm.2717.


Protein misfolding and potential therapeutic treatments in inherited retinopathies.

Tam LC, Kiang AS, Campbell M, Keaney J, Farrar GJ, Humphries MM, Kenna PF, Humphries P.

Adv Exp Med Biol. 2012;723:567-72. doi: 10.1007/978-1-4614-0631-0_72. Review. No abstract available.


Gene-based therapies for dominantly inherited retinopathies.

Farrar GJ, Millington-Ward S, Chadderton N, Humphries P, Kenna PF.

Gene Ther. 2012 Feb;19(2):137-44. doi: 10.1038/gt.2011.172. Epub 2011 Nov 17. Review.


C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa.

Humphries MM, Kenna PF, Campbell M, Tam LC, Nguyen AT, Farrar GJ, Botto M, Kiang AS, Humphries P.

Eur J Hum Genet. 2012 Jan;20(1):64-8. doi: 10.1038/ejhg.2011.151. Epub 2011 Aug 24.


A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P.

Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1109.


Systemic low-molecular weight drug delivery to pre-selected neuronal regions.

Campbell M, Humphries MM, Kiang AS, Nguyen AT, Gobbo OL, Tam LC, Suzuki M, Hanrahan F, Ozaki E, Farrar GJ, Kenna PF, Humphries P.

EMBO Mol Med. 2011 Apr;3(4):235-45. doi: 10.1002/emmm.201100126. Epub 2011 Mar 4.


Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa.

Millington-Ward S, Chadderton N, O'Reilly M, Palfi A, Goldmann T, Kilty C, Humphries M, Wolfrum U, Bennett J, Humphries P, Kenna PF, Farrar GJ.

Mol Ther. 2011 Apr;19(4):642-9. doi: 10.1038/mt.2010.293. Epub 2011 Jan 11.


Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).

Tam LC, Kiang AS, Campbell M, Keaney J, Farrar GJ, Humphries MM, Kenna PF, Humphries P.

Hum Mol Genet. 2010 Nov 15;19(22):4421-36. doi: 10.1093/hmg/ddq369. Epub 2010 Sep 2.


Gene therapeutic approaches for dominant retinopathies.

Farrar GJ, Palfi A, O'Reilly M.

Curr Gene Ther. 2010 Oct;10(5):381-8. Review.

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