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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A

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

Papers overview

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Review
2010
Review
2010
Voltage-gated Ca2+ channels couple membrane depolarization to Ca2+-dependent intracellular signaling events. This is achieved by… Expand
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Highly Cited
2009
Highly Cited
2009
PURPOSE The purpose of this study was to identify the causative gene defect in two siblings with an uncharacterized cone-rod… Expand
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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… Expand
Highly Cited
2006
Highly Cited
2006
Glutamate release from photoreceptor terminals is controlled by voltage-dependent calcium channels (VDCCs). In humans, mutations… Expand
Highly Cited
2005
Highly Cited
2005
Purpose: To describe the phenotype in a New Zealand family with an unusual severe X‐linked retinal disorder with a novel I745T… Expand
Highly Cited
2004
Highly Cited
2004
CaBP1–8 are neuronal Ca2+-binding proteins with similarity to calmodulin (CaM). Here we show that CaBP4 is specifically expressed… Expand
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Highly Cited
2002
Highly Cited
2002
PURPOSE Mutations in the alpha(1F) subunit of voltage-dependent calcium channels (VDCCs) have been shown to cause incomplete… Expand
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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… Expand
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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… Expand
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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… Expand