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Items: 1 to 20 of 73

1.

Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.

Dinet V, Ciccotosto GD, Delaunay K, Borras C, Ranchon-Cole I, Kostic C, Savoldelli M, El Sanharawi M, Jonet L, Pirou C, An N, Abitbol M, Arsenijevic Y, Behar-Cohen F, Cappai R, Mascarelli F.

Mol Brain. 2016 Jun 8;9(1):64. doi: 10.1186/s13041-016-0245-z.

2.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E.

Am J Hum Genet. 2016 May 5;98(5):1011-9. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7.

PMID:
27063057
3.

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.

Nash BM, Wright DC, Grigg JR, Bennetts B, Jamieson RV.

Transl Pediatr. 2015 Apr;4(2):139-63. doi: 10.3978/j.issn.2224-4336.2015.04.03. Review.

4.

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2015 Oct 31;21:1261-71. eCollection 2015.

5.

A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.

Kondo M, Das G, Imai R, Santana E, Nakashita T, Imawaka M, Ueda K, Ohtsuka H, Sakai K, Aihara T, Kato K, Sugimoto M, Ueno S, Nishizawa Y, Aguirre GD, Miyadera K.

PLoS One. 2015 Sep 14;10(9):e0137072. doi: 10.1371/journal.pone.0137072. eCollection 2015.

6.

Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.

Scalabrino ML, Boye SL, Fransen KM, Noel JM, Dyka FM, Min SH, Ruan Q, De Leeuw CN, Simpson EM, Gregg RG, McCall MA, Peachey NS, Boye SE.

Hum Mol Genet. 2015 Nov 1;24(21):6229-39. doi: 10.1093/hmg/ddv341. Epub 2015 Aug 26.

PMID:
26310623
7.

A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.

Vinberg F, Wang T, Molday RS, Chen J, Kefalov VJ.

Hum Mol Genet. 2015 Oct 15;24(20):5915-29. doi: 10.1093/hmg/ddv319. Epub 2015 Aug 5.

PMID:
26246500
8.

Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.

Dai S, Ying M, Wang K, Wang L, Han R, Hao P, Li N.

Sci Rep. 2015 Aug 3;5:12679. doi: 10.1038/srep12679.

9.

ON-OFF Interactions in the Retina: Role of Glycine and GABA.

Popova E.

Curr Neuropharmacol. 2014 Dec;12(6):509-26. doi: 10.2174/1570159X13999150122165018.

10.

NYX mutations in four families with high myopia with or without CSNB1.

Zhou L, Li T, Song X, Li Y, Li H, Dan H.

Mol Vis. 2015 Mar 5;21:213-23. eCollection 2015.

11.

Proteoglycan form and function: A comprehensive nomenclature of proteoglycans.

Iozzo RV, Schaefer L.

Matrix Biol. 2015 Mar;42:11-55. doi: 10.1016/j.matbio.2015.02.003. Epub 2015 Feb 18. Review.

12.

Oligomeric state of purified transient receptor potential melastatin-1 (TRPM1), a protein essential for dim light vision.

Agosto MA, Zhang Z, He F, Anastassov IA, Wright SJ, McGehee J, Wensel TG.

J Biol Chem. 2014 Sep 26;289(39):27019-33. doi: 10.1074/jbc.M114.593780. Epub 2014 Aug 11.

13.

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

Malaichamy S, Sen P, Sachidanandam R, Arokiasamy T, Lancelot ME, Audo I, Zeitz C, Soumittra N.

Mol Vis. 2014 Mar 21;20:341-51. eCollection 2014. Erratum in: Mol Vis. 2014;20:780.

14.

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

Neuillé M, El Shamieh S, Orhan E, Michiels C, Antonio A, Lancelot ME, Condroyer C, Bujakowska K, Poch O, Sahel JA, Audo I, Zeitz C.

PLoS One. 2014 Mar 5;9(3):e90342. doi: 10.1371/journal.pone.0090342. eCollection 2014.

15.

Properties of Flicker ERGs in Rat Models with Retinal Degeneration.

An J, Guo Q, Li L, Zhang Z.

ISRN Ophthalmol. 2012 May 22;2012:346297. doi: 10.5402/2012/346297. eCollection 2012.

16.

Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.

Regus-Leidig H, Atorf J, Feigenspan A, Kremers J, Maw MA, Brandstätter JH.

PLoS One. 2014 Jan 21;9(1):e86769. doi: 10.1371/journal.pone.0086769. eCollection 2014.

17.

Mutation of Elfn1 in mice causes seizures and hyperactivity.

Dolan J, Mitchell KJ.

PLoS One. 2013 Nov 27;8(11):e80491. doi: 10.1371/journal.pone.0080491. eCollection 2013.

18.

Degeneration of retinal on bipolar cells induced by serum including autoantibody against TRPM1 in mouse model of paraneoplastic retinopathy.

Ueno S, Nishiguchi KM, Tanioka H, Enomoto A, Yamanouchi T, Kondo M, Yasuma TR, Yasuda S, Kuno N, Takahashi M, Terasaki H.

PLoS One. 2013 Nov 25;8(11):e81507. doi: 10.1371/journal.pone.0081507. eCollection 2013.

19.

Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.

Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S, Sandmeyer L, Ludwig A, Foerster D, Pruvost M, Reissmann M, Bortfeldt R, Adelson DL, Lim SL, Nelson J, Haase B, Engensteiner M, Leeb T, Forsyth G, Mienaltowski MJ, Mahadevan P, Hofreiter M, Paijmans JL, Gonzalez-Fortes G, Grahn B, Brooks SA.

PLoS One. 2013 Oct 22;8(10):e78280. doi: 10.1371/journal.pone.0078280. eCollection 2013.

20.

Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.

Klooster J, van Genderen MM, Yu M, Florijn RJ, Riemslag FC, Bergen AA, Gregg RG, Peachey NS, Kamermans M.

Invest Ophthalmol Vis Sci. 2013 Oct 23;54(10):6973-81. doi: 10.1167/iovs.13-12293.

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