An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

10.1038/940 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 260-263 ◽  
Author(s):  
Tim M. Strom ◽  
Gerald Nyakatura ◽  
Eckart Apfelstedt-Sylla ◽  
Heide Hellebrand ◽  
Birgit Lorenz ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Channel Gene

Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

10.1038/947 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 264-267 ◽  
Author(s):  
N. Torben Bech-Hansen ◽  
Margaret J. Naylor ◽  
Tracy A. Maybaum ◽  
William G. Pearce ◽  
Ben Koop ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Loss Of Function ◽  
Subunit Gene ◽  
Α1 Subunit

scholarly journals Biophysical characterization of CaV1.4 L-type calcium channel mutants causing congenital stationary night blindness type 2 in humans

2012 ◽  
Vol 13 (Suppl 1) ◽  
pp. A69
Author(s):  
Klaus W Schicker ◽  
Verena Burtscher ◽  
Dagmar Knoflach ◽  
Anamika Singh ◽  
Thomas Stockner ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Biophysical Characterization

scholarly journals Substantial restoration of night vision in adult mice with congenital stationary night blindness

2021 ◽  
Author(s):  
Juliette Varin ◽  
Nassima Bouzidi ◽  
Gregory Gauvain ◽  
Corentin Joffrois ◽  
Melissa Desrosiers ◽  
...  
Keyword(s):  
Night Blindness ◽  
Night Vision ◽  
Congenital Stationary Night Blindness ◽  
Adult Mice

Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients

2021 ◽  
pp. 1-8
Author(s):  
Takaaki Hayashi ◽  
Yusuke Murakami ◽  
Kei Mizobuchi ◽  
Yoshito Koyanagi ◽  
Koh-Hei Sonoda ◽  
...  
Keyword(s):  
Older Adult ◽  
Night Blindness ◽  
Adult Patients ◽  
Congenital Stationary Night Blindness ◽  
Middle Aged

scholarly journals A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

2011 ◽  
Vol 90 (3) ◽  
pp. e192-e197 ◽  
Author(s):  
Panagiotis I. Sergouniotis ◽  
Anthony G. Robson ◽  
Zheng Li ◽  
Sophie Devery ◽  
Graham E. Holder ◽  
...  
Keyword(s):  
Night Blindness ◽  
Congenital Stationary Night Blindness

scholarly journals Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert–Bornschein type

2002 ◽  
Vol 42 (11) ◽  
pp. 1475-1483 ◽  
Author(s):  
Hana Langrová ◽  
Daphne Gamer ◽  
Christoph Friedburg ◽  
Dorothea Besch ◽  
Eberhart Zrenner ◽  
...  
Keyword(s):  
Night Blindness ◽  
Congenital Stationary Night Blindness

scholarly journals 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

2015 ◽  
Vol 24 (21) ◽  
pp. 6229-6239 ◽  
Author(s):  
Miranda L. Scalabrino ◽  
Sanford L. Boye ◽  
Kathryn M. H. Fransen ◽  
Jennifer M. Noel ◽  
Frank M. Dyka ◽  
...  
Keyword(s):  
Mouse Model ◽  
Visual Function ◽  
Night Blindness ◽  
Bipolar Cells ◽  
Congenital Stationary Night Blindness ◽  
Aav Vector

scholarly journals Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A)

Channels ◽  
2018 ◽  
Vol 12 (1) ◽  
pp. 17-33 ◽  
Author(s):  
D. M. Waldner ◽  
N. C. Giraldo Sierra ◽  
S. Bonfield ◽  
L. Nguyen ◽  
I. S. Dimopoulos ◽  
...  
Keyword(s):  
Night Blindness ◽  
Cone Dystrophy ◽  
Congenital Stationary Night Blindness ◽  
Loss Of Function ◽  
Function Model
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