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258 related items for PubMed ID: 24163243

  • 1. 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]

  • 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 Mar 15; 7(6):514-23. PubMed ID: 24064553
    [Abstract] [Full Text] [Related]

  • 3. 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]

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

  • 5. 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 Jan 01; 7(6):503-13. PubMed ID: 24051672
    [Abstract] [Full Text] [Related]

  • 6. 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 Jan 01; 10(9):e0137072. PubMed ID: 26368928
    [Abstract] [Full Text] [Related]

  • 7. 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 Jan 01; 17():3262-70. PubMed ID: 22194652
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 9(1):e86769. PubMed ID: 24466230
    [Abstract] [Full Text] [Related]

  • 9. An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.
    Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C.
    Ophthalmic Genet; 2019 Oct 01; 40(5):443-448. PubMed ID: 31651202
    [Abstract] [Full Text] [Related]

  • 10. Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.
    Wyględowska-Promieńska D, Świerczyńska M, Śpiewak D, Pojda-Wilczek D, Tronina A, Dorecka M, Smędowski A.
    Int J Mol Sci; 2024 Mar 02; 25(5):. PubMed ID: 38474172
    [Abstract] [Full Text] [Related]

  • 11. A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
    Mahmood U, Méjécase C, Ali SMA, Moosajee M, Kozak I.
    Genes (Basel); 2021 Jan 27; 12(2):. PubMed ID: 33513752
    [Abstract] [Full Text] [Related]

  • 12. Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.
    Lodha N, Bonfield S, Orton NC, Doering CJ, McRory JE, Mema SC, Rehak R, Sauvé Y, Tobias R, Stell WK, Bech-Hansen NT.
    Adv Exp Med Biol; 2010 Jan 27; 664():549-58. PubMed ID: 20238058
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
    Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A.
    Genes (Basel); 2021 Feb 25; 12(3):. PubMed ID: 33668843
    [Abstract] [Full Text] [Related]

  • 16. 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 25; 473(9):1437-1454. PubMed ID: 34212239
    [Abstract] [Full Text] [Related]

  • 17. Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A).
    Waldner DM, Ito K, Chen LL, Nguyen L, Chow RL, Lee A, Rancourt DE, Tremblay F, Stell WK, Bech-Hansen NT.
    Transl Vis Sci Technol; 2020 Oct 25; 9(11):19. PubMed ID: 33117610
    [Abstract] [Full Text] [Related]

  • 18. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
    Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH.
    Am J Ophthalmol; 2012 Jan 25; 153(1):143-54.e2. PubMed ID: 21920492
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 20. 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 25; 39(5):659-661. PubMed ID: 30067413
    [No Abstract] [Full Text] [Related]

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