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Journal Abstract Search

164 related items for PubMed ID: 24722264

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

  • 2. 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; 7(6):514-23. PubMed ID: 24064553
    [Abstract] [Full Text] [Related]

  • 3. 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; 9(1):e86769. PubMed ID: 24466230
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. 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 Mar 15; 7(6):503-13. PubMed ID: 24051672
    [Abstract] [Full Text] [Related]

  • 7. 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 Mar 15; 10(9):e0137072. PubMed ID: 26368928
    [Abstract] [Full Text] [Related]

  • 8. Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.
    Jia S, Muto A, Orisme W, Henson HE, Parupalli C, Ju B, Baier H, Taylor MR.
    Hum Mol Genet; 2014 Jun 01; 23(11):2981-94. PubMed ID: 24419318
    [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. The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.
    Rashwan R, Hunt DM, Carvalho LS.
    Pflugers Arch; 2021 Sep 01; 473(9):1455-1468. PubMed ID: 34255151
    [Abstract] [Full Text] [Related]

  • 11. Clinical characterisation of the CABP4-related retinal phenotype.
    Khan AO, Alrashed M, Alkuraya FS.
    Br J Ophthalmol; 2013 Mar 01; 97(3):262-5. PubMed ID: 23099293
    [Abstract] [Full Text] [Related]

  • 12. Cav1.4 dysfunction and congenital stationary night blindness type 2.
    Koschak A, Fernandez-Quintero ML, Heigl T, Ruzza M, Seitter H, Zanetti L.
    Pflugers Arch; 2021 Sep 01; 473(9):1437-1454. PubMed ID: 34212239
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells.
    Knoflach D, Schicker K, Glösmann M, Koschak A.
    Channels (Austin); 2015 Jun 08; 9(5):298-306. PubMed ID: 26274509
    [Abstract] [Full Text] [Related]

  • 15. Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F.
    Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T, Schatz P.
    Ophthalmic Genet; 2018 Oct 08; 39(5):659-661. PubMed ID: 30067413
    [No Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
    Vincent A, Wright T, Day MA, Westall CA, Héon E.
    Mol Vis; 2011 Mar 19; 17():3262-70. PubMed ID: 22194652
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.
    An J, Zhang L, Jiao B, Lu F, Xia F, Yu Z, Zhang Z.
    Gene; 2015 May 15; 562(2):210-9. PubMed ID: 25748727
    [Abstract] [Full Text] [Related]

  • 20. 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. PubMed ID: 26246500
    [Abstract] [Full Text] [Related]

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