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Items: 5

1.

NMNAT1 mutations cause Leber congenital amaurosis.

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA.

Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29.

2.

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.

Hedergott A, Volk AE, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A.

Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2239-46. doi: 10.1007/s00417-015-3174-0. Epub 2015 Oct 13. Review.

PMID:
26464178
3.

Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.

Jakobsson C, Othman IS, Munier FL, Schorderet DF, Abouzeid H.

Klin Monbl Augenheilkd. 2014 Apr;231(4):405-10. doi: 10.1055/s-0034-1368221. Epub 2014 Apr 25. Review.

PMID:
24771178
4.

Gene therapy for Leber congenital amaurosis: advances and future directions.

Hufnagel RB, Ahmed ZM, Corrêa ZM, Sisk RA.

Graefes Arch Clin Exp Ophthalmol. 2012 Aug;250(8):1117-28. doi: 10.1007/s00417-012-2028-2. Epub 2012 May 29. Review.

PMID:
22644094
5.

Leber congenital amaurosis caused by mutations in RPGRIP1.

Li T.

Cold Spring Harb Perspect Med. 2014 Nov 20;5(4). pii: a017384. doi: 10.1101/cshperspect.a017384. Review.

PMID:
25414380

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