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Journal Abstract Search

448 related items for PubMed ID: 26368928

  • 1. 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; 10(9):e0137072. PubMed ID: 26368928
    [Abstract] [Full Text] [Related]

  • 2. 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 08; 9(1):64. PubMed ID: 27267879
    [Abstract] [Full Text] [Related]

  • 3. Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.
    Marmor MF, Zeitz C.
    Doc Ophthalmol; 2018 Aug 08; 137(1):57-62. PubMed ID: 30051303
    [Abstract] [Full Text] [Related]

  • 4. 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 05; 98(5):1011-1019. PubMed ID: 27063057
    [Abstract] [Full Text] [Related]

  • 5. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
    Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y.
    Doc Ophthalmol; 2020 Apr 05; 140(2):147-157. PubMed ID: 31583501
    [Abstract] [Full Text] [Related]

  • 6. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.
    Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C.
    Clin Genet; 2016 Jun 05; 89(6):690-9. PubMed ID: 26822852
    [Abstract] [Full Text] [Related]

  • 7. Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).
    Waldner DM, Giraldo Sierra NC, Bonfield S, Nguyen L, Dimopoulos IS, Sauvé Y, Stell WK, Bech-Hansen NT.
    Channels (Austin); 2018 Jan 01; 12(1):17-33. PubMed ID: 29179637
    [Abstract] [Full Text] [Related]

  • 8. In vivo electroretinographic differentiation of rod, short-wavelength and long/medium-wavelength cone responses in dogs using silent substitution stimuli.
    Mowat FM, Wise E, Oh A, Foster ML, Kremers J.
    Exp Eye Res; 2019 Aug 01; 185():107673. PubMed ID: 31128103
    [Abstract] [Full Text] [Related]

  • 9. LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.
    Neuillé M, Cao Y, Caplette R, Guerrero-Given D, Thomas C, Kamasawa N, Sahel JA, Hamel CP, Audo I, Picaud S, Martemyanov KA, Zeitz C.
    Invest Ophthalmol Vis Sci; 2017 Mar 01; 58(3):1768-1778. PubMed ID: 28334377
    [Abstract] [Full Text] [Related]

  • 10. Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation.
    An J, Wang L, Guo Q, Li L, Xia F, Zhang Z.
    J Neurogenet; 2012 Sep 01; 26(3-4):363-73. PubMed ID: 22800190
    [Abstract] [Full Text] [Related]

  • 11. Visual signal pathway reorganization in the Cacna1f mutant rat model.
    Tao Y, Chen T, Liu B, Xue JH, Zhang L, Xia F, Pang JJ, Zhang ZM.
    Invest Ophthalmol Vis Sci; 2013 Mar 19; 54(3):1988-97. PubMed ID: 23425697
    [Abstract] [Full Text] [Related]

  • 12. Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2.
    Liu X, Kerov V, Haeseleer F, Majumder A, Artemyev N, Baker SA, Lee A.
    Channels (Austin); 2013 Mar 19; 7(6):514-23. PubMed ID: 24064553
    [Abstract] [Full Text] [Related]

  • 13. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
    Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM.
    Ophthalmology; 2013 Oct 19; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 14. A missense mutation in Grm6 reduces but does not eliminate mGluR6 expression or rod depolarizing bipolar cell function.
    Peachey NS, Hasan N, FitzMaurice B, Burrill S, Pangeni G, Karst SY, Reinholdt L, Berry ML, Strobel M, Gregg RG, McCall MA, Chang B.
    J Neurophysiol; 2017 Aug 01; 118(2):845-854. PubMed ID: 28490646
    [Abstract] [Full Text] [Related]

  • 15. Keeping the balance.
    Tom Dieck S.
    Channels (Austin); 2013 Aug 01; 7(6):418-9. PubMed ID: 24722264
    [Abstract] [Full Text] [Related]

  • 16. Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.
    Knoflach D, Kerov V, Sartori SB, Obermair GJ, Schmuckermair C, Liu X, Sothilingam V, Garcia Garrido M, Baker SA, Glösmann M, Schicker K, Seeliger M, Lee A, Koschak A.
    Channels (Austin); 2013 Aug 01; 7(6):503-13. PubMed ID: 24051672
    [Abstract] [Full Text] [Related]

  • 17. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
    Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preising MN, Friedburg C, Lorenz B, Zabouri N, Haverkamp S, Garcia Garrido M, Tanimoto N, Seeliger MW, Biel M, Wahl-Schott CA.
    Hum Mol Genet; 2014 Mar 15; 23(6):1538-50. PubMed ID: 24163243
    [Abstract] [Full Text] [Related]

  • 18. Clinical characterisation of the CABP4-related retinal phenotype.
    Khan AO, Alrashed M, Alkuraya FS.
    Br J Ophthalmol; 2013 Mar 15; 97(3):262-5. PubMed ID: 23099293
    [Abstract] [Full Text] [Related]

  • 19. Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs?
    Oh A, Loew ER, Foster ML, Davidson MG, English RV, Gervais KJ, Herring IP, Mowat FM.
    Doc Ophthalmol; 2018 Oct 15; 137(2):87-101. PubMed ID: 30051304
    [Abstract] [Full Text] [Related]

  • 20. Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.
    Hayashi T, Murakami Y, Mizobuchi K, Koyanagi Y, Sonoda KH, Nakano T.
    Ophthalmic Genet; 2021 Aug 15; 42(4):412-419. PubMed ID: 33769208
    [Abstract] [Full Text] [Related]

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