NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A

Known as: CSNB2A, CSNB, INCOMPLETE, X-LINKED, CSNB2 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1989-2017
02419892017

Papers overview

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2014
2014
Light-dependent conductance changes of voltage-gated Cav1.4 channels regulate neurotransmitter release at photoreceptor ribbon… (More)
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2011
2011
PURPOSE To report, for the first time, that X-linked incomplete congenital stationary night blindness (CSNB2A) and Åland island… (More)
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2009
2009
PURPOSE The purpose of this study was to identify the causative gene defect in two siblings with an uncharacterized cone-rod… (More)
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Highly Cited
2006
Highly Cited
2006
Mutations in genes encoding either components of the phototransduction cascade or proteins presumably involved in signaling from… (More)
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Highly Cited
2006
Highly Cited
2006
Glutamate release from photoreceptor terminals is controlled by voltage-dependent calcium channels (VDCCs). In humans, mutations… (More)
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2005
2005
The genetic locus for incomplete congenital stationary night blindness (CSNB2) has been identified as the CACNA1f gene, encoding… (More)
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2005
2005
Light stimuli produce graded hyperpolarizations of the photoreceptor plasma membrane and an associated decrease in a voltagegated… (More)
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2001
2001
PURPOSE The CACNA1F gene encodes a voltage-gated calcium channel alpha1 subunit, alpha1F, which is expressed in the human retina… (More)
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Highly Cited
1998
Highly Cited
1998
The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23… (More)
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Highly Cited
1998
Highly Cited
1998
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night… (More)
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