172 related articles for article (PubMed ID: 17949918)
41. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
Zeitz C; van Genderen M; Neidhardt J; Luhmann UF; Hoeben F; Forster U; Wycisk K; Mátyás G; Hoyng CB; Riemslag F; Meire F; Cremers FP; Berger W
Invest Ophthalmol Vis Sci; 2005 Nov; 46(11):4328-35. PubMed ID: 16249515
[TBL] [Abstract][Full Text] [Related]
42. [Molecular genetic study of congenital stationary night blindness].
Nakamura M; Miyake Y
Nippon Ganka Gakkai Zasshi; 2004 Nov; 108(11):665-73. PubMed ID: 15584351
[TBL] [Abstract][Full Text] [Related]
43. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
Jacobi FK; Andréasson S; Langrova H; Meindl A; Zrenner E; Apfelstedt-Sylla E; Pusch CM
Graefes Arch Clin Exp Ophthalmol; 2002 Oct; 240(10):822-8. PubMed ID: 12397430
[TBL] [Abstract][Full Text] [Related]
44. The beta 1 subunit of L-type voltage-gated Ca2+ channels independently binds to and inhibits the gating of large-conductance Ca2+-activated K+ channels.
Zou S; Jha S; Kim EY; Dryer SE
Mol Pharmacol; 2008 Feb; 73(2):369-78. PubMed ID: 17989350
[TBL] [Abstract][Full Text] [Related]
45. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
Hove MN; Kilic-Biyik KZ; Trotter A; Grønskov K; Sander B; Larsen M; Carroll J; Bech-Hansen T; Rosenberg T
Invest Ophthalmol Vis Sci; 2016 Dec; 57(15):6861-6869. PubMed ID: 28002560
[TBL] [Abstract][Full Text] [Related]
46. A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
Petitprez S; Tiab L; Chen L; Kappeler L; Rösler KM; Schorderet D; Abriel H; Burgunder JM
Neurology; 2008 Nov; 71(21):1669-75. PubMed ID: 19015483
[TBL] [Abstract][Full Text] [Related]
47. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
Szabo V; Kreienkamp HJ; Rosenberg T; Gal A
Hum Mutat; 2007 Jul; 28(7):741-2. PubMed ID: 17584859
[TBL] [Abstract][Full Text] [Related]
48. 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; 54(3):1988-97. PubMed ID: 23425697
[TBL] [Abstract][Full Text] [Related]
49. A common NYX mutation in Flemish patients with X linked CSNB.
Leroy BP; Budde BS; Wittmer M; De Baere E; Berger W; Zeitz C
Br J Ophthalmol; 2009 May; 93(5):692-6. PubMed ID: 18617546
[TBL] [Abstract][Full Text] [Related]
50. Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses.
Bellone RR; Forsyth G; Leeb T; Archer S; Sigurdsson S; Imsland F; Mauceli E; Engensteiner M; Bailey E; Sandmeyer L; Grahn B; Lindblad-Toh K; Wade CM
Brief Funct Genomics; 2010 May; 9(3):193-207. PubMed ID: 20353955
[TBL] [Abstract][Full Text] [Related]
51. Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.
Orhan E; Prézeau L; El Shamieh S; Bujakowska KM; Michiels C; Zagar Y; Vol C; Bhattacharya SS; Sahel JA; Sennlaub F; Audo I; Zeitz C
Invest Ophthalmol Vis Sci; 2013 Dec; 54(13):8041-50. PubMed ID: 24222301
[TBL] [Abstract][Full Text] [Related]
52. Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.
Lampert A; Dib-Hajj SD; Eastman EM; Tyrrell L; Lin Z; Yang Y; Waxman SG
Biochem Biophys Res Commun; 2009 Dec; 390(2):319-24. PubMed ID: 19800314
[TBL] [Abstract][Full Text] [Related]
53. 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; 562(2):210-9. PubMed ID: 25748727
[TBL] [Abstract][Full Text] [Related]
54. Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.
Kim HM; Joo K; Han J; Woo SJ
Genes (Basel); 2021 May; 12(6):. PubMed ID: 34064005
[TBL] [Abstract][Full Text] [Related]
55. Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Tabatabaie L; de Koning TJ; Geboers AJ; van den Berg IE; Berger R; Klomp LW
Hum Mutat; 2009 May; 30(5):749-56. PubMed ID: 19235232
[TBL] [Abstract][Full Text] [Related]
56. Temperature dependence of Cav1.4 calcium channel gating.
Peloquin JB; Doering CJ; Rehak R; McRory JE
Neuroscience; 2008 Feb; 151(4):1066-83. PubMed ID: 18206315
[TBL] [Abstract][Full Text] [Related]
57. The importance of genetic testing as demonstrated by two cases of
Men CJ; Bujakowska KM; Comander J; Place E; Bedoukian EC; Zhu X; Leroy BP; Fulton AB; Pierce EA
Mol Vis; 2017; 23():695-706. PubMed ID: 29062221
[TBL] [Abstract][Full Text] [Related]
58. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
Zeitz C; Kloeckener-Gruissem B; Forster U; Kohl S; Magyar I; Wissinger B; Mátyás G; Borruat FX; Schorderet DF; Zrenner E; Munier FL; Berger W
Am J Hum Genet; 2006 Oct; 79(4):657-67. PubMed ID: 16960802
[TBL] [Abstract][Full Text] [Related]
59. Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.
Choi JS; Dib-Hajj SD; Waxman SG
Neurology; 2006 Nov; 67(9):1563-7. PubMed ID: 16988069
[TBL] [Abstract][Full Text] [Related]
60. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
