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Journal Abstract Search

185 related items for PubMed ID: 31513577

  • 1. Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells.
    Winkelman BHJ, Howlett MHC, Hölzel MB, Joling C, Fransen KH, Pangeni G, Kamermans S, Sakuta H, Noda M, Simonsz HJ, McCall MA, De Zeeuw CI, Kamermans M.
    PLoS Biol; 2019 Sep; 17(9):e3000174. PubMed ID: 31513577
    [Abstract] [Full Text] [Related]

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  • 3. Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.
    Schatz A, Kelbsch C, Zeitz C, Kohl S, Zrenner E, Gekeler F, Wilhelm H, Wilhelm B, Willmann G.
    Graefes Arch Clin Exp Ophthalmol; 2019 Jun; 257(6):1207-1215. PubMed ID: 30982101
    [Abstract] [Full Text] [Related]

  • 4. Differentiation of murine models of "negative ERG" by single and repetitive light stimuli.
    Tanimoto N, Akula JD, Fulton AB, Weber BH, Seeliger MW.
    Doc Ophthalmol; 2016 Apr; 132(2):101-9. PubMed ID: 26996188
    [Abstract] [Full Text] [Related]

  • 5. Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
    Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M.
    Ophthalmol Retina; 2024 Sep; 8(9):932-941. PubMed ID: 38522615
    [Abstract] [Full Text] [Related]

  • 6. Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.
    Al Oreany AA, Al Hadlaq A, Schatz P.
    Graefes Arch Clin Exp Ophthalmol; 2016 Oct; 254(10):1951-1956. PubMed ID: 27084085
    [Abstract] [Full Text] [Related]

  • 7. Congenital Stationary Night Blindness.
    Tsang SH, Sharma T.
    Adv Exp Med Biol; 2018 Oct; 1085():61-64. PubMed ID: 30578486
    [Abstract] [Full Text] [Related]

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

  • 9. 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 Oct; 9(3):e90342. PubMed ID: 24598786
    [Abstract] [Full Text] [Related]

  • 10. 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; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 24(21):6229-39. PubMed ID: 26310623
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 137(2):87-101. PubMed ID: 30051304
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 137(1):57-62. PubMed ID: 30051303
    [Abstract] [Full Text] [Related]

  • 14. Assessment of night vision problems in patients with congenital stationary night blindness.
    Bijveld MM, van Genderen MM, Hoeben FP, Katzin AA, van Nispen RM, Riemslag FC, Kappers AM.
    PLoS One; 2013 Aug 01; 8(5):e62927. PubMed ID: 23658786
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 89(6):690-9. PubMed ID: 26822852
    [Abstract] [Full Text] [Related]

  • 16. Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.
    Al-Hujaili H, Taskintuna I, Neuhaus C, Bergmann C, Schatz P.
    Mol Vis; 2019 Jun 01; 25():851-858. PubMed ID: 31908403
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 08; 42(4):412-419. PubMed ID: 33769208
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
    Zeitz C, Robson AG, Audo I.
    Prog Retin Eye Res; 2015 Mar 05; 45():58-110. PubMed ID: 25307992
    [Abstract] [Full Text] [Related]

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